There are many wonderful things about being a woman, but our increased risk of autoimmune disease is not one of them. Autoimmune diseases are essentially civil wars within the body &#8212; the body’s immune system attacks its own organs and tissues. The term “autoimmune” covers a wide variety of conditions, from rheumatoid arthritis and multiple sclerosis to the lesser-known conditions of Hashimoto’s thyroiditis and SjÃ¶gren’s syndrome.
One commonality of these conditions is that they affect women much more frequently than men. In some cases, this g<img loading="lazy" decoding="async" class="alignright wp-image-12225 size-large" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/Autoimmune1.jpg" width="535" height="392" />ender bias is quite striking; Hashimoto’s thyroiditis, a condition in which the immune system attacks the thyroid gland, affects women ten times more often than men. Some autoimmune diseases, however, are less biased; type I diabetes, for instance, affects women and men at approximately the same rate.
Why women are disproportionately affected by autoimmune disease is not fully known or understood, although the hypotheses are numerous. Some research suggests that estrogen may help antibody production and immune system response, but can also lead to an overly active immune system. Other research indicates that genes on the X chromosomes may play a role in these immune system mutinies, and women &#8212; who have two X chromosomes &#8212; may thus be at an increased risk over men who have only one X chromosome.
Still other research suggests that “fetal-maternal microchimerism” may be the root cause. In this strange-sounding phenomenon, a small number of the baby’s cells pass through the placenta into the mother and continue to live within the mother. The presence of these foreign fetal cells within the mother may result in an incorrect immune system response and autoimmune disease. More research, however, is needed to establish which of these hypotheses (if any) are correct.
Autoimmune diseases are serious medical concerns for women; indeed, when taken together, autoimmune diseases constitute one of the top ten causes of death among young and middle-aged women. The irony of these conditions is that the immune system, which should be a woman’s greatest ally in fighting disease, becomes her worst enemy. Why and how a body’s betrayal occurs needs to be better understood through further research.
<img loading="lazy" decoding="async" class="alignnone size-full wp-image-12789" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/2012-nwhw-web-banner.png" width="408" height="104" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/2012-nwhw-web-banner.png 408w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/2012-nwhw-web-banner-300x76.png 300w" sizes="auto, (max-width: 408px) 100vw, 408px" />

The War Waged Within: Autoimmunity in Women

National Cancer Prevention and Early Detection Month: Highlighting Customer Stories

<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="768" src="http://35.88.189.111/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg" alt="Image of Jenn and her three half siblings" class="wp-image-33542" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings.jpg 1080w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Jenn (far left) and her half siblings (from left) Joe, Mechele &#038; Lisa</figcaption></figure>



They were strangers to Jenn, so as she prepared for her first in-person meeting with her newly found brother and two sisters, her anxiety rose.



“Of course, I was nervous,” said Jenn, a 46-year-old who works in a New York real estate office. “I went over everything that can go wrong, you know, especially because of what happened when I reached out to my birth mother.”



That was in 2019. The state of New York had just opened adoption records. Jenn found the identity of her birth mother, carefully crafted a letter to her, and included photos of herself as a child and another one of her as an adult. Jenn didn’t want anything from her birth mother; she just wanted to connect. Instead of an embrace, she got the kind of response many adoptees fear the most.



“She doesn’t want to have anything to do with me,” Jenn said.



<h2 class="wp-block-heading" id="h-you-have-daddy-s-eyes">‘You Have Daddy’s Eyes’</h2>



So, five years later, after connecting through 23andMe to three half-siblings on her birth father’s side, Jenn was all butterflies. Then she walked into the pizza parlor where she’d be meeting Joe, Lisa, and Mechele. She heard Lisa say, “Welcome baby sister,” and she then got her first group hug.



“Sometimes when you meet someone for the first time, you’re nervous and you hold something of yourself back,” Jenn said. “There was none of that. It’s crazy how easily we got along.”



At one point, one of her siblings said, “You have daddy’s eyes.”



One minute, they were four strangers meeting for the first time; the next, they were family.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="360" height="480" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-sister-.jpg" alt="Jenn and half-sister Mechele" class="wp-image-33543" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister-.jpg 360w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister--225x300.jpg 225w" sizes="auto, (max-width: 360px) 100vw, 360px" /><figcaption class="wp-element-caption">Jenn and Mechele</figcaption></figure>



<h2 class="wp-block-heading" id="h-creating-family-memories">Creating Family Memories</h2>



That was on January 26th, 2024, the 30th anniversary of their father’s death. Their bonds with each other have only grown since then, including a bigger family reunion in August and plans to gather again for the holidays this year.



“I am looking forward to creating memories with my family and learning more and more about our father,” said Jenn. “23andMe was a blessing, and we are so very grateful for the opportunity to make our family complete.”



Getting to the point where she could sit at this much, much bigger family table this holiday season wasn’t easy. It was 46 years in the making.



Jenn, and her brother, were adopted from different families, but they always felt lucky to have a mom that loved them unconditionally.



“When I say, ‘my mom,’ I mean the woman who raised me,” Jenn said. “She is my mother.”



That’s never going to change.



<h2 class="wp-block-heading" id="h-losing-mom">Losing Mom</h2>



When, as young kids, she and her brother learned that they’d been adopted, they didn’t tell their mom.



“I couldn&#8217;t even think about looking for (my birth parents) while she was here because it would have broken her,” Jenn said. “I would not do that.”



For Jenn, being adopted felt special. She believed that unlike other kids who just get the parents they’re born to, she and her brother had been chosen by their parents, and they won the parent lottery with their mom.



“She was my world,” Jenn said, her voice filled with emotion.



When their mom died in 1997, Jenn was devastated. She was 19.



It would be a long time before she’d start searching for where she came from and who her birth parents might have been. It wasn’t so much to make a connection but more about trying to understand herself and her story.



“I wanted to know where I came from and who I was,” she said.



She loved her mom and loves her brother, but she also felt different.



“Growing up, my mom was very quiet, very calm, cool, and collected,” Jenn said. “My brother is also like that, and here I come along and I’m loud, I&#8217;m fresh. I’m the person at the party saying &#8216;let&#8217;s dance.’ I wanted to know why I was that way.”



<h2 class="wp-block-heading" id="h-taking-a-chance-at-finding-family">Taking a Chance at Finding Family</h2>



Her first quest in 2019 started with getting ahold of her adoption records in New York and ended in rejection. She thought that was the end to her search for family.



“I closed the book on all that,” she said.



In 2017 she used 23andMe, but it wasn’t to find her family. She wanted to learn more about her ethnicity. She learned she was mostly British and Irish and had some German ancestry. She had some very distant cousins that popped up, but she didn’t really think about family connections. Then she got an email in December of 2023 notifying her that a relative had messaged her on 23andMe.



It was a message from Joe.



She scrolled down, saw his photo and that he was predicted to be a half-brother.



“I dropped my phone,” she said.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="240" height="320" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-Joe.jpg" alt="Jenn and half-sibling Joe" class="wp-image-33544" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe.jpg 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe-225x300.jpg 225w" sizes="auto, (max-width: 240px) 100vw, 240px" /><figcaption class="wp-element-caption">Jenn and Joe</figcaption></figure>



<h2 class="wp-block-heading" id="h-meeting-for-the-first-time">Meeting for the First Time</h2>



They feverishly began exchanging messages. Joe was as eager as she was to learn more. He eventually asked if he could loop in his sisters. Jenn thought, “Wait, I have sisters.” Then using Facebook, she was able to put more faces to names.



Along with Joe, there was Mechele and Lisa. They all had questions for her as well. Their dad had divorced from their mom in the early 1970s, and afterward he dated for a while. That’s when Jenn had been conceived, but the three siblings believe their father didn’t know anything about Jenn.



“He had no idea about me,” Jenn said. “Everyone swears that if he knew, he one hundred percent would have looked for me, would have found me, and would have been a part of my life.”



But he never got that chance, and then he died of a heart attack in 1994.



<h2 class="wp-block-heading" id="h-nature-versus-nurture">Nature Versus Nurture</h2>



Now Jenn is learning about her birth father from her siblings. She’s learning that they all share the same kind of boisterous personality as she does, and odd little things.



“Okay. So here&#8217;s one thing that happened when,” Jenn said offering one example. “We took a picture, all four of us for the first time and we&#8217;re all joking and just kind of sitting there living in the moment. And my sister Mechele goes, ‘Put a leg up!’”



She kicked her leg up and her sister grabbed it for the photo.



“I stopped for a second and she said, ‘Wait, what happened?’” Jenn said. “They all stopped and looked at me.”



That’s something she’s always doing for photos.



“I looked over at my boyfriend and we&#8217;ve been together for 20 years, and he just shook his head, (because) I do that all the time. I say, ‘Put a leg up!’ and you throw a leg up in the picture.”



It’s such an odd thing to imagine that could be something genetically shared, but it was also so distinctive like something she has always done.



“I was baffled, it’s so weird, but cool, in a cool way,” Jenn said.



<h2 class="wp-block-heading" id="h-your-people">Your People</h2>



&nbsp;As she gets closer to visiting again with her newfound family for the holidays, Jenn also marvels at how fortunate she has been.



“It’s beautiful, this is my family, and I finally get like, I get it all. I get sisters. I get an extra brother. I don’t know how it was so perfect or how I’m so lucky. But I am. I’m the luckiest person in the world.”



There is no question that they are going to stay in each other’s lives. The family is just bigger now.



Her brother, who she was raised with, saw it too.



“He’s my brother. We’re not blood related, but we were raised together. And he said to me when he saw the photos of that first meeting, he said, ‘Jennifer, those are your people.’”

Image of Jenn and her three half siblings

New Family Gathering This Holiday Season

Bella doesn’t know how it started, but genetics has fascinated her since she was little.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="228" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg" alt="A photo of Bella." class="wp-image-33300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg 228w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-768x1009.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-779x1024.jpg 779w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-670x880.jpg 670w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-898x1180.jpg 898w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo.jpg 1080w" sizes="auto, (max-width: 228px) 100vw, 228px" /></figure>



“I don’t know what triggered it; it just appealed to me,” said Bella, a 22-year-old college student with a passion for biology.



For Bella, genetics is like a giant puzzle, with scientists still trying to piece it together to reveal something about us as humans or why some people get sick, and others don’t. 



During the pandemic, she devoured details of how scientists used a small piece of messenger RNA, mRNA, to create a vaccine that would produce an immune response and antibodies against COVID-19. She also contemplates what might be possible in the future; as most people know, certain genetic variants can dramatically increase one’s risk for a disease. But Bella likes to imagine discovering genetic variants that might do the opposite and protect one against disease.



“There’s still so much more to discover,” she said.



<h2 class="wp-block-heading" id="h-a-gift-of-knowledge">A Gift of Knowledge</h2>



She soon learned that the same was true about her own genetics. Her mom gifted her a 23andMe Health + Ancestry kit for Christmas one year. Bella thought it was a perfect choice.



“It’s really easy to use and super detailed,” she said.



She was interested in her ancestry because she never knew much about her family tree. It turns out that she’s Turkish, Iranian and Italian. She was also interested in her health reports. She opted in to view the reports, went through a short tutorial, and opened up her reports, including her Cystic Fibrosis Carrier Status Report.*



“I found out I was a carrier of cystic fibrosis,” Bella said.



<h2 class="wp-block-heading" id="h-what-it-means-to-be-a-carrier">What it Means to Be a Carrier</h2>



Being a carrier does not typically impact your health, and it’s not unusual; depending on ethnicity, between one in 25 and one in 100 people in the United States are carriers for cystic fibrosis. But there is a chance that if you are a carrier and your partner is a carrier, you could have a<a href="https://www.23andme.com/topics/carrier/cystic-fibrosis/"> child with cystic fibrosis</a>. P



eople with cystic fibrosis inherit variants in the CFTR gene from both parents. It is relatively rare; about 35,000 people in the United States have<a href="https://www.cdc.gov/cystic-fibrosis/about/"> cystic fibrosis, according to the CDC</a>. It’s a very serious condition affecting breathing and digestion. There is no cure, but new treatments have helped people with the disease live longer.  



Learning that she was a carrier initially was a big surprise and a little scary. But it triggered some essential family conversations. 



<h2 class="wp-block-heading" id="h-planning-ahead">Planning Ahead</h2>



Bella talked to her mom and then contacted her dad to find out if there was any family history of cystic fibrosis. Then she spoke to her older brother and then a cousin. She thought this would be important information for them to know since they might be considering having children.



Her mom told her she was glad she used 23andMe.



“’Now you know,’” Bella’s mom told her.



Knowing meant she could plan ahead if she decided to have children. It would be essential to know if her partner was also a carrier.



&#8220;Knowledge is power!&#8221; Bella said more than once.&nbsp;



&nbsp;She continues to stress the importance of genetic testing and planning for the future.



Learn More



<a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health &amp; Ancestry</a>, <a href="https://www.23andme.com/membership/">23andMe+ Premium</a>, and <a href="https://www.23andme.com/total-health/">23andMe+ Total Health </a>customers can all <a href="https://you.23andme.com/health/carrier_status/">learn about their carrier status here</a>. 



Not yet a customer? Find out more about <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe offers here</a>.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-note">Note:</h2>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults to report carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 



Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. We provide a single report for certain conditions that includes information on carrier status and genetic health risk. 



The Cystic Fibrosis Carrier Status report is indicated for detecting 29 variants in the CFTR gene and is most relevant for people of Ashkenazi Jewish, European, and Hispanic/Latino descent.

Bella Learns About Her Carrier Status

Lillian Newman decided to use 23andMe in part because she wanted to learn about her grandfather, who was from Cuba and had some Sephardic ancestry, but she thought testing could reveal so much more than that.



&#8220;The reason I chose 23andMe is that (it has) a focus not only on the ancestry side but on how your DNA relates to your health,&#8221; Lillian said.



<h2 class="wp-block-heading" id="h-what-i-know-now">What I Know Now</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/IMG_3775-225x300.jpg" alt="A photo of Lillian Neuman" class="wp-image-33205" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-768x1024.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-660x880.jpg 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-885x1180.jpg 885w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Little did she know that her 23andMe health reports would help her profoundly. She shared her story because she thought it might help others. Lillian believes that she&#8217;s not the only one who didn&#8217;t know that genetics affects how one&#8217;s body processes many commonly prescribed medications.* Despite this, clinical guidelines rarely call for testing people before prescribing those medications.



&#8220;I wish I had known then what I know now,&#8221; Lillian said. &#8220;Using 23andMe+ Premium and finding out about the SLCO1B1 gene was huge. Huge.&#8221;



Her reference to the SLCO1B1 gene refers to how different genetic variants in SLCO1B1 can affect how you process certain medications.&nbsp; Like millions of Americans, Lillian Newman has high cholesterol, which, left untreated, can lead to a whole host of issues, including heart disease, heart attacks, and strokes. She learned about her high cholesterol after a routine blood test in 2018. To address the problem, Lillian&#8217;s doctor prescribed a statin.



<h2 class="wp-block-heading" id="h-statins-save-lives">Statins Save Lives</h2>



Statins are among the most prescribed medications in the United States. According to the CDC, an estimated one in four adults in the U.S. takes a cholesterol-lowering medication, and the vast majority of those are statins.



Statins work by inhibiting an enzyme in the liver so the liver makes less cholesterol but pulls in more cholesterol from the bloodstream. That lowers the amount of bad cholesterol in the blood, stabilizing any plaques along the artery&#8217;s walls, and preventing even more plaque from building up. That, in turn, reduces the chances of a stroke or heart attack. Statins have proven<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126440/"> mostly safe and effective</a> in lowering cholesterol and thus have helped to prevent heart attacks and strokes.



<h2 class="wp-block-heading" id="h-side-effects">Side Effects</h2>



But there are some side effects from taking statins — headache, brain fog, fatigue, and sometimes intense muscle cramping and pain. Sometimes, these side effects are related to a person&#8217;s genetics, which can affect how they process medications. In turn, the side effects sometimes lead people to either change how they take their medication or stop taking it altogether, which in turn can lead to poor health outcomes.



For Lillian, the side effects — severe muscle pain — began after her doctor increased the dose of the statin she was taking. Within a few weeks, the muscles in her legs started cramping. At one point, she had such crushing chest pain that she thought she was having a heart attack and was rushed to the ER. After a cardiologist determined it wasn&#8217;t her heart, her doctor told her that sometimes people experience cramping as a side effect of taking statins but that the benefits of taking the statin outweigh the pain.



&#8220;I remember I went home feeling despondent,&#8221; Lillian said.



Lillian said no one ever mentioned genetics or how using a different statin dose might help. She thought she just had to grit her teeth and bear it. Periodically, the pain was so bad that she&#8217;d go off her medication, something that can be very risky.



<h2 class="wp-block-heading" id="h-a-simple-change">A Simple Change</h2>



A person&#8217;s genetics — specifically a genetic variant that affects the function of the <a href="https://blog.23andme.com/articles/new-23andme-report-on-simvastatin">SLCO1B1 transporter protein</a>, which in turn affects how a person&#8217;s body processes the statin known as simvastatin — plays a role in side effects like muscle pain in some people. Other non-genetic factors also play a role, but very few people are tested to see if they have a genetic marker that might impact how they process a drug. Lillian didn&#8217;t know anything about what&#8217;s known as <a href="https://blog.23andme.com/articles/23andme-granted-the-first-and-only-fda-authorization-for-direct-to-consumer-pharmacogenetics-reports">pharmacogenetics</a> or how DNA variants influence the body&#8217;s ability to process medication.



&#8220;In the five years of dealing with cholesterol issues, no one tested me for SLC01B1,&#8221; Lillian said.



Although she had been a customer of 23andMe for years, last year, she decided to upgrade to 23andMe+ Premium, which includes pharmacogenetic reports. When she opened the report on SLCO1B1 Drug Transport, specifically looking at the medication insights for simvastatin, it felt personal to her experience.



&#8220;It provided me with critical information to discuss with my doctor,&#8221; Lillian said.



Her doctor lowered her statin dosage, and that small change made a huge difference in her life, allowing her to continue to manage her cholesterol but without the debilitating pain.&nbsp;



&#8220;Now, I wanted to tell you that doing the 23andMe+ membership is the best (money) I spent this year,&#8221; Lillian said. &#8220;I am deeply grateful to 23andMe. You truly made a difference for me by having that test available. I think everyone should know about this.&#8221;&nbsp;



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-note">Note:</h2>



*23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene, and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva to report and interpret information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic. 



Our CYP2C19 Pharmacogenetics report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Results for SLCO1B1 and DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogenetics reports, visit <a href="http://23andme.com/test-info/pharmacogenetics/">23andme.com/test-info/pharmacogenetics/</a>

Customer Learns Her Genetics Impacts How She Processes Statins

By Rebecca Jones



We all have a story or an accumulation of stories that make us who we are. It&#8217;s part of being human. It&#8217;s in our DNA. If those stories vanish, what are we then?&nbsp;



<h2 class="wp-block-heading" id="h-six-million-living-with-alzheimer-s-disease">Six Million Living with Alzheimer&#8217;s Disease</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="200" height="300" src="http://35.88.189.111/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg" alt="A photo of Rebecca Jones." class="wp-image-33172" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones.jpg 426w" sizes="auto, (max-width: 200px) 100vw, 200px" /></figure>



More than <a href="https://www.alz.org/alzheimers-dementia/facts-figures#:~:text=More%20than%206%20million%20Americans%20of%20all%20ages%20have%20Alzheimer's,older%20(10.7%25)%20has%20Alzheimer's.">six million people in the United States live with Alzheimer&#8217;s disease</a>. A condition that cruelly extinguishes memories one by one—everything from the memory of holding a child for the first time to the touch of a fleeting lost love or the bracing courage we felt when we stood up for ourselves. With Alzheimer&#8217;s disease, those memories vanish until you have no stories left.&nbsp;



Not too long ago, I learned from a 23andMe genetic test that I carry the ?4 variant in the APOE gene, predisposing me toward late-onset Alzheimer&#8217;s disease.* Seeing &#8220;increased risk&#8221; in writing shook me, but it wasn&#8217;t surprising. Three of my aunts on my father&#8217;s side died of Alzheimer&#8217;s disease. After a series of follow-up visits with doctors, confirmatory testing, and then brain scans, I learned that I had early signs of Alzheimer’s disease. Soon after learning all this, I became part of a clinical trial and was among the first wave of patients treated with Eisai and Biogen’s newly approved drug, <a href="https://www.statnews.com/2024/05/09/alzheimers-leqembi-eisai-biogen-hurdles/">Leqembi.</a>



<h2 class="wp-block-heading" id="h-my-story">My Story</h2>



I want to share my story because I believe we should all rethink how we approach genetic testing for Alzheimer&#8217;s disease or any disease. Knowledge is power. Learning early through a consumer genetic test alerted me to a risk I didn’t know about before I was symptomatic. It was information that my doctors could follow up on, and then, miraculously, there was a clinical trial for which I was a good candidate. If I’d waited until I was symptomatic, it might have been too late.



I&#8217;m a mother of four and grandmother of ten. Before I retired, I was a marketing manager for a pharmaceutical company focusing on oncology. Maybe that made me particularly ready to understand the importance of learning one’s genetic risk and navigating participation in a clinical trial.



<h2 class="wp-block-heading" id="h-new-treatments">New Treatments </h2>



For too long, the prognosis for people with Alzheimer’s was bleak. So much so that doctors recommended against learning of your genetic risk because, they reasoned, there was little you could do about it; learning of your risk would cause anxiety and stress. Research <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778270/">doesn&#8217;t support that</a>, but more importantly, the options for people with an early diagnosis have changed. I’m hoping that attitudes about genetic testing, or new types of <a href="https://www.washingtonpost.com/health/2022/11/17/alzheimers-blood-test-research-treatment/">blood testing</a> to identify those at risk or who may have early-stage Alzheimer’s, change as well.&nbsp;



Learning of my risk and then getting a diagnosis spurred me to action. I studied up on new research, promising treatments, and interventions that had only recently become available. Learning of my risk wasn&#8217;t easy, but I knew it was something I couldn’t ignore. I had to educate myself.



<h2 class="wp-block-heading" id="h-a-family-conversation">A Family Conversation</h2>



After I learned of my risk, I did what a lot of people do when confronted with a health issue: I talked to my family. Alzheimer&#8217;s runs in families, so this was more than just seeking counsel; I wanted my sisters and my adult children to know that the risk I faced might be something they should be aware of as well. My older sister and two of my daughters tested and learned that they, too, carry the same genetic risk. They call this the <a href="https://www.cdc.gov/cascade-testing/about/?CDC_AAref_Val=https://www.cdc.gov/genomics/disease/cascade_testing/cascade_finding.htm">cascade effect</a> of genetic testing. One family member learns of a risk and can alert other family members to a potential risk they might not have known otherwise.



Beyond talking to family, I spoke to my doctor, who fortunately didn&#8217;t just brush it off. What followed was confirmatory testing, baseline testing for cognitive impairment — I had some — and referral to a neurologist. A brain scan revealed amyloid plaque build-up, a sign of the disease. 



<h2 class="wp-block-heading" id="h-a-clinical-trial">A Clinical Trial</h2>



I learned that I had early signs of Alzheimer&#8217;s. But I also knew I was a good candidate for a drug that was in clinical trials. I volunteered. I also learned that I was the perfect candidate for the drug Leqembi. The FDA approved Leqembi to treat people with early Alzheimer&#8217;s disease as a way to slow its progression. Knowing your APOE status is recommended before treatment because individuals with two copies of the APOE e4 variant have an increased risk for side effects. My older sister and I began infusion treatments together. 



The biggest takeaway for me is that, just like with cancer, the earlier a diagnosis, the better the odds of treating Alzheimer&#8217;s. And yet, often, people only learn that they have Alzheimer&#8217;s after symptoms become hard to ignore. However, by then, the disease has already caused significant damage. 



<h2 class="wp-block-heading" id="h-the-power-of-knowing">The Power of Knowing</h2>



How many people are diagnosed with Alzheimer&#8217;s before significant cognitive impairment? Not many, unfortunately.



I was lucky. I had access to a genetic test that informed me of my risk early. I didn&#8217;t ignore it. I acted early with my doctor&#8217;s help. My hope lies in more people like me getting genetic testing, learning of their potential risk, and then following up and getting an early diagnosis. 



It&#8217;s given me the chance to use new treatments to stave off the erasure of my memories. I hope it will help prevent Alzheimer&#8217;s from robbing me of the stories that make up my life.



Rebecca Jones is a mother of four and grandmother of ten. She is retired and was formerly a marketing manager for a pharmaceutical company focused on oncology. She lives in Tulsa, Oklahoma.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h6 class="wp-block-heading" id="h-note">Note:</h6>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 



The Late-Onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the e4 variant in the APOE gene. It describes if a person has a variant associated with an increased risk of developing late-onset Alzheimer’s disease. The e4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.

The Power of Knowing

Editor&#8217;s note: For Juneteenth we&#8217;re republishing a post from earlier this year about connecting a woman and her family to the remains of a little girl buried among those of other enslaved African Americans near a historic iron furnace in Maryland. 



Agnes Jackson lives in Hagerstown, Maryland, near her four daughters and about 20 miles from the Catoctin Furnace, a historic site.&nbsp;



This long-ago shuttered iron smelter is one of the earliest industrial sites in the United States. The old iron furnace is on the edge of the Catoctin Mountain National Park, a verdant open space blanketed in forest and lined with hiking trails along the edge of the Blue Ridge Mountains.



<h2 class="wp-block-heading" id="h-an-iron-furnace">An Iron Furnace</h2>



The beauty of the place belies the brutal conditions that once made up the day-to-day lives of the free and enslaved African Americans who lived and worked there.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg" alt="A photo of Agnes Jackson." class="wp-image-32672" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1180x663.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes Jackson, as researchers explain her genetic connection to a girl buried at the historic Catoctin Furnace.</figcaption></figure>



Until recently, Agnes, who is 86, knew little of that history or her deep connection to those who lived and worked there.



Despite living so close, Agnes and her daughters visited Catoctin for the first time only about a year ago, soon after she learned about her family&#8217;s link to the site.&nbsp;



&#8220;We never knew,&#8221; Agnes said during a visit to the site last year.



With the help of the local archaeologist and president of the Catoctin Furnace Historical Society, Elizabeth Comer, and <a href="https://www.science.org/doi/10.1126/science.ade4995?adobe_mc=MCMID%3D36970045036454591841970885085615049025%7CMCORGID%3D242B6472541199F70A4C98A6%2540AdobeOrg%7CTS%3D1708709301">groundbreaking research</a> from scientists at Harvard, the Smithsonian, and 23andMe, Agnes and her family are seeing for the first time all the threads that connect them to this place and the people who toiled here.



Elizabeth, who perhaps has spent more time than anyone trying to document the legacy of the people who worked at the furnace, said adding the DNA component to this research connects this early American history to the living.



&#8220;What DNA does for the first time is connect a living, 21st-century family not just to Catoctin but to the cemetery,&#8221; she recently told Science magazine.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg" alt="Photo of Agnes and her daughters talking to Éadaoin Harney, and Elizabeth Comer." class="wp-image-32671" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">From left Éadaoin Harney, Elizabeth Comer, Agnes Green, her daughters Vicki Winston, Sharon Green, and Barbara Hart. </figcaption></figure>



<h2 class="wp-block-heading" id="h-groundbreaking-genetic-study">Groundbreaking Genetic Study</h2>



Earlier this month, Elizabeth and 23andMe scientist Éadaoin Harney visited with Agnes and three of her daughters, Sharon Green, Vicki Winston, and Barbara Hart, at a museum commemorating the Catoctin Furnace and the enslaved and free people who worked there.



Éadaoin was the lead author of a study published in the journal Science last year. The other researchers in the study included senior authors David Reich at Harvard and Doug Owsley at the Smithsonian. The researchers sequenced and studied genetic data from the remains of 27 anonymous enslaved and freed African Americans buried at the site. 



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Catoctin + 23andMe" width="500" height="281" src="https://www.youtube.com/embed/FJ-wWvZVK94?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



The remains were uncovered decades ago during a highway construction project and buried in an unmarked burial ground. Researchers noted that the genetically related individuals were clustered into five family groups: mothers, children, and siblings.



The study leveraged 23andMe&#8217;s extensive research database to find genetic connections between those anonymous individuals and more than 41,000 relatives, although most of whom are very distantly related. The paper broke new ground by providing a technical and <a href="https://blog.23andme.com/articles/ethics-and-the-study-of-historic-dna-catoctin-furnace">ethical benchmark for future studies</a> of similar, largely forgotten burial sites. Agnes and her family were the first of the living close relatives to be informed that they share a previously unknown genetic connection to a historical individual using the first-of-its-kind approach developed by 23andMe researchers for this study.



When the paper was published in August 2023, Carter Clinton, an African American geneticist at North Carolina State University, said the research was &#8220;significant for every African American in the country.&#8221;&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg" alt="A photo of the Catoctin Furnace" class="wp-image-32668" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h2 class="wp-block-heading" id="h-the-human-connection">The Human Connection</h2>



For Agnes, it was also personal. One of those family groups that the study identified at the Catoctin site included the remains of a young girl between the ages of two and three years old. There were few artifacts with the body, just some pins, nails, and screws found with her remains. The nails and screws were likely the only surviving remnants of the coffin she was buried in, and one of the pins was perhaps used to hold back the little girl&#8217;s hair, some of the researchers suspect. The other pins were likely used to fasten a burial shroud.&nbsp;



Comparing the genetic sequence of this little girl with Agnes, Éadaoin and the team of scientists saw a large amount of shared DNA, indicating they were relatively closely related. The most likely connection is with Agnes&#8217;s great-great-grandfather, Hanson Summers. It’s possible that Hanson and the girl were half-siblings or cousins.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg" alt="A photo of Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart." class="wp-image-32665" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart.</figcaption></figure>



Often, there is family lore, stories passed down from generation to generation, but it is rare for African Americans to trace back their family history, often hitting the brick wall of slavery. Often, historical records for those enslaved ancestors are spotty. Names may never have been recorded or are only partially recorded.&nbsp;



For Agnes&#8217;s family, it was no different. She knew nothing of her family&#8217;s connection to the iron furnace. That changed a few years ago during this study when researchers from the Catoctin Furnace Historical Society, who had been attempting for years to find living descendants, had their first success. Elizabeth helped connect Agnes&#8217;s family to the furnace using paper records and historical sleuthing. The connection was through her great-great-grandfather, Hanson &#8220;Henson&#8221; Summers, who&#8217;d been enslaved at the iron furnace site in the early 19th century.&nbsp;



<h2 class="wp-block-heading" id="h-a-family-s-history-and-american-history">A Family&#8217;s History and American History</h2>



The family, of course, knew that their ancestors had been enslaved. They knew he’d worked at the Antietam Furnace that operated in Hagerstown, but they didn&#8217;t know they were linked to the Catoctin Furnace until Elizabeth connected them. 



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg" alt="Photo of cannon balls produced at the Catoctin Furnace." class="wp-image-32670" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1180x665.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-768x433.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-880x496.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Among the many items produced at the Catoctin Furnace were cannonballs used by the Continental Army during the Revolutionary War.</figcaption></figure>



Hanson had been enslaved at Catoctin until he was in his 30s, at which point he and other members of his family were sold to the operators of the Antietam Furnace, according to the records. 



After the end of slavery, Hanson worked at an iron forge. Known for his strength and skill, he died in Hagerstown at 82 in 1899. Elizabeth&#8217;s work first found mention of Hanson in Maryland archives from 1834. His name was included on an inventory from Catoctin Furnace that included the names of enslaved African Americans. On it was a 17-year-old boy named &#8220;Henson.&#8221;&nbsp;



The Catoctin Furnace has a significant place in American history. 



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="168" src="http://35.88.189.111/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg" alt="A historic marker of the Catoctin Furnace" class="wp-image-32667" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-768x431.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1024x575.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-880x494.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1180x662.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



The first owner of the furnace was Thomas Johnson Jr. — a wealthy enslaver, the first non-colonial governor of Maryland, and a signer of the <a href="https://www.ushistory.org/declaration/related/assoc74.html">Articles of Association</a>, a precursor document to the Declaration of Independence. Iron production began in earnest in 1776. It contributed to the arming of the fledgling Continental Army — supplying 100 tons of shells for the Siege of Yorktown. While historians documented the industrial significance of the site, the history of enslaved workers there was not.&nbsp;



<h2 class="wp-block-heading" id="h-we-built-this">We Built This</h2>



Agnes and her family didn&#8217;t know their family’s contribution to that history. Agnes said that learning about her ancestors&#8217; contributions was important.



“Just to know that we actually were in history and that we made a difference,” she said. “We built this place.”&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg" alt="A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace." class="wp-image-32669" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Touching the burial ground.</figcaption></figure>



That history might have remained lost had it not been a forgotten burial ground, which had been unearthed in the 1970s during a freeway construction project. Archaeologists found the remains of more than 30 individuals buried there. No records existed of who those individuals were. Over the years, the Catoctin Furnace Historical Society has worked to preserve the history of the site and the people who worked there. Only with the advent of ancient DNA technology did an effort to learn more about the DNA of individuals begin.&nbsp;



This study offered the <a href="https://blog.23andme.com/articles/historical-dna-connection-to-early-enslaved-and-free-african-americans">first genetic link</a> between enslaved or freed African Americans working at the furnace and their living relatives, including Agnes.



&#8220;It&#8217;s so exciting to see my tree… to learn more about our ancestors,&#8221; Agnes said. It&#8217;s always good to know where we came from.&#8221;

A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace.

23andMe Connects Living Family to Enslaved African American from Historic Site

Maybe it&#8217;s genetics, maybe not, but Hannah and her dad, Oscar, both share interests in science and athletics.



Hannah is an avid runner. Her dad has always been active, whether it&#8217;s playing soccer or distance cycling. A patent lawyer by profession, Oscar is also captivated by science and holds a master&#8217;s degree in applied molecular biology. 



For her part, Hannah, a genetic counselor at Lemonaid Health, Inc., part of the 23andMe family, can&#8217;t remember a time when she wasn&#8217;t interested in genetic science. It happened early after her identical twin younger brothers were born. 



&#8220;I actually used 23andMe back in 2015,&#8221; Hannah said. &#8220;But I&#8217;ve been interested in genetics my whole life. I&#8217;m captivated by the intersection of genetics and health.&#8221;



That sort of sums up her dad&#8217;s outlook, too. Along with their shared interest, Hannah and her dad learned from using 23andMe that they shared something else: an increased genetic likelihood of developing type 2 diabetes. 



<h2 class="wp-block-heading" id="h-like-father-like-daughter">Like Father, Like Daughter</h2>



We wanted to share Hannah and Oscar&#8217;s story for Father&#8217;s Day this year. Hannah gifted her dad a 23andMe kit that revealed health insights that benefited both of them.



&#8220;You have these two generations of individuals,&#8221; Hannah said. &#8220;Myself, and my father, and we all have this in common. Knowing that helps to highlight how important it is for us to each have a healthy lifestyle and remain active.&#8221;



<h2 class="wp-block-heading" id="h-an-unexpected-risk-addressed">An Unexpected Risk Addressed</h2>



Hannah and her dad are fit, lean, healthy, and active. You might not expect that they had this predisposition toward type 2 diabetes. But like most health conditions, type 2 diabetes is influenced by several factors, including genetics, diet, activity levels, and whether one can maintain a healthy weight. 



Sometimes, a person&#8217;s ancestry and family history is also essential in understanding a predisposition for certain conditions. Rates of type 2 diabetes are higher among people with African, Indigenous American, Asian, Latino, and Pacific Islander ancestry. Oscar is Filipino. 



One key indicator for those at risk for type 2 diabetes is a blood test called hemoglobin A1C (HbA1C). It measures a person’s average blood sugar (glucose) level.



&#8220;I make sure that every year I get a blood test, and one of the first things I do is check my A1C number because it is high,&#8221; Oscar said. &#8220;It&#8217;s something I watch along with my diet.&#8221;



<h2 class="wp-block-heading" id="h-the-power-of-prevention">The Power of Prevention</h2>



Because Hannah&#8217;s A1C numbers have been up and down, her doctor has recommended getting tests every six months. 



This has been important for her health. However, Hannah also said it perfectly illustrates what she does almost every day as a genetic counselor—reminding people that their health is influenced by the interplay of their genetics, lifestyle, and environment. Understanding that and your family health history can go a long way to understanding what you should be aware of and actions you could take toward prevention. 



Like her dad, it motivates her to make healthier choices and avoid processed foods and too much sugar. Seeing that she has a genetic predisposition is also motivating.



&#8220;I feel like that&#8217;s the real power of these results in a preventative sense,&#8221; she said. &#8220;The genetic result gives clarity, puts it front and center, and motivates me. It&#8217;s very powerful.&#8221;



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



Explore how genetics impacts your health and the traits you share with your family. Find out <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe has to offer here</a>.

Hannah and Her Father

It&#8217;d been 43 years since the last time Kim held her son.&nbsp;



In all those decades, she wondered what had happened after she&#8217;d given him up in a private adoption as a scared 15-year-old girl. Kim&#8217;s life turned out well: She married and has two wonderful daughters and grandkids, but the thought of her son and the questions never left her.&nbsp;



<h2 class="wp-block-heading" id="h-a-good-person">A Good Person</h2>



Did he have a good life? Did his parents love him? Was he happy?



&#8220;You know, the only thing I could ever think about in my head was, &#8216;I just want him to be alive and be a good person,'&#8221; Kim said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="284" height="300" src="http://35.88.189.111/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png" alt="Kim and her son Jason soon after meeting in person for the first time." class="wp-image-32850" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png 284w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-768x813.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-968x1024.png 968w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-832x880.png 832w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason.png 1066w" sizes="auto, (max-width: 284px) 100vw, 284px" /></figure>



With the help of 23andMe and her daughter Jenny, Kim could answer those questions. Most importantly, she was able to embrace her son, Jason, for the first time and see the wonderful father and person he&#8217;d become.&nbsp;



Their first in-person meeting was at a gas station near Des Moines, a random halfway point between where Kim had been in Minnesota and Jason in Missouri. Kim found a friendly cashier to record the moment on her cellphone, and you can hear the cashier’s sweet comments while she’s filming.&nbsp;



<h2 class="wp-block-heading" id="h-a-long-embrace">A Long Embrace</h2>



In the video, you can see their minute-long embrace in the aisles between the chips and soda fountain and the emotion welling up in them. Kim cries and pulls back to look into Jason&#8217;s eyes and touch his cheeks as the two — mother and son — soak in the moment.



For Jason, it was the first time he had looked at someone besides his kids who looked like him. 



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Kim and Jason First Hug" width="500" height="281" src="https://www.youtube.com/embed/ERbWCvwZ-Ao?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



&#8220;That was like, &#8216;Wow,'&#8221; he said.



Their story was unexpected for both of them. Jason always knew he had been adopted, but he wasn&#8217;t looking for his biological parents. Raised in a loving Midwest home with four siblings, who also were adoptees, Jason didn&#8217;t feel the need to go searching. He had questions, but he wasn&#8217;t looking.&nbsp;



Then, in late 2022, his wife, Elizabeth, gave him a 23andMe kit for Christmas. The two, who met and fell in love in high school, have three children and one grandchild. Elizabeth survived a breast cancer battle starting in 2019, and now in their 40s, the couple wanted to know more about their health.&nbsp;



<h2 class="wp-block-heading" id="h-looking-for-health-information">Looking for Health Information</h2>



Jason, who had no family health history, thought it was vital for him and his children.



&#8220;If you grew up with a mom and dad and brothers and sisters and aunts and uncles and grandparents, you&#8217;d know if there was anything you should be aware of,&#8221; he said.



Jason used 23andMe to see if he had any genetic predispositions that would concern him or his three children and one grandson.



&#8220;So, the motivation was, &#8216; Let&#8217;s (learn more) for (the kids) sake,’&#8221; he said.



He did get some health information indicating a higher likelihood of developing type 2 diabetes, but he&#8217;d also opted into DNA Relatives. Opening DNA Relatives, he saw someone matched as a predicted niece. He messaged her almost immediately, and he got a response.



&#8220;I&#8217;m not your niece. I&#8217;m your half-sister. Our mom&#8217;s name is Kimberly.&#8221;



<h2 class="wp-block-heading" id="h-someone-searching-for-me">Someone Searching for Me</h2>



Kim&#8217;s daughter Jenny knew all about her mom giving up a son at 15. She was able to fill Jason in on his biological mom&#8217;s life.



&#8220;It was unbelievable, you know, because I wasn&#8217;t looking for one, and it happened so fast,&#8221; Jason said. &#8220;It was literally within a minute or two that she responded, which blew my mind.&#8221;



The two quickly connected on the phone and talked. Jenny was in Nebraska, and Jason was at home in Missouri. So much was loaded into Jenny&#8217;s response and their conversation on the phone.



&#8220;Like, I just had no idea that there was somebody out there looking for me, you know? So, yeah, it&#8217;s hard to imagine all that when you&#8217;re an adoptee,&#8221; Jason said.



<h2 class="wp-block-heading" id="h-mom-are-you-sitting-down">Mom, Are You Sitting Down?</h2>



They&#8217;d talked in the evening, but Jenny waited until morning to call Kim.



&#8220;Mom, are you sitting down,&#8221; she said.



Kim, concerned something was terribly wrong, sat down and braced herself. Her husband stood by, concerned.



&#8220;Mom, I found your son,&#8221; Jenny said.



&#8220;We were both crying and talking,&#8221; Kim said. It took me a while to catch my breath, but as soon as I did, I called (Jason), and it&#8217;s been like it was all meant to be.&#8221;



They eventually arranged to meet in person. Kim and her husband now live in Florida but had been in Minnesota and were on a road trip to see their daughter in Nebraska, so she and Jason arranged to meet at a road stop gas station about midway.&nbsp;



<h2 class="wp-block-heading" id="h-building-a-relationship">Building a Relationship</h2>



For Kim, getting to know Jason, learning about his upbringing, meeting his family, and having them embrace her has given her peace. She&#8217;s building relationships with them that are expanding her family. Jason and his wife have visited Kim and her husband in Florida. They all spent time with Jason&#8217;s family in Missouri.



&#8220;His entire family was there to meet us, and I cannot tell you how nervous I was to meet them, but I got the best hugs and love from everybody,&#8221; Kim said. &#8220;I&#8217;m so thankful these lovely people adopted Jason.&#8221;



They&#8217;re trying to build new family traditions, but Kim said there isn&#8217;t a rush.



&#8220;I don&#8217;t need to hurry anything,&#8221; she said. &#8220;We&#8217;re a family now. We&#8217;re together, and we&#8217;re not going anywhere.&#8221;



Jason knows that many adoptees never get the opportunity to meet their birth mom or build a relationship. Maybe they never connect; if they do, it isn&#8217;t a welcoming experience.&nbsp;&nbsp;



&#8220;I didn&#8217;t even realize anything was missing in my life, but now I feel complete.&#8221;



<h2 class="wp-block-heading" id="h-discover-more-with-23andme">Discover more with 23andMe</h2>



Not everyone is searching for family, but <a href="https://www.23andme.com/dna-ancestry/">23andMe&#8217;s Ancestry Service </a>can help you learn your genetic connections to more than 3000 geographic regions or your connections to DNA Relatives with whom you share DNA. 



If you want to go deeper, <a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry</a> gives you all the great insights of the Ancestry Service, plus more than 150 personalized reports with information to help you manage your health. 



Learn more about <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe offers here</a>.

A Mother and Son Reunion

Emily&#8217;s deep curiosity drew her to try 23andMe, but she didn&#8217;t anticipate being floored by what she would learn.



&#8220;I was interested in the health information, of course,&#8221; said Emily, a mother of three who runs a small business and farm in Ohio with her husband. &#8220;But I guess the bigger part of why I tested is I&#8217;m just curious. I&#8217;m interested in history, genealogy, science, and the fun stuff that DNA can tell you. I didn&#8217;t expect this.&#8221;



Her results offered her a layer of information about her health and traits, and then something entirely unexpected expanded what she understood about herself and her family.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="769" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg" alt="" class="wp-image-32429" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-scaled.jpeg 1923w" sizes="auto, (max-width: 769px) 100vw, 769px" /></figure>



She first focused on the health reports when she got her results in early 2023. Emily, who is in her 30s, was increasingly aware that prevention was a much better approach to her health than simply treating something after you&#8217;ve already gotten sick. She wanted to know if she had any genetic health risks for things like <a href="https://blog.23andme.com/articles/23andme-updates-brca1-2-report">breast and ovarian cancer</a>*, <a href="https://www.23andme.com/en-eu/topics/health-predispositions/hereditary-thrombophilia/">blood clots</a>*, or her likelihood for certain <a href="https://blog.23andme.com/articles/heart-health-2">heart </a>conditions that she should know about and try to prevent with the help of her doctor.&nbsp;



She learned instead that she had an increased genetic likelihood for type 2 diabetes. It surprised her because she&#8217;s active and in good shape. But while lifestyle and diet play a significant role in whether one develops type 2 diabetes, genetics is also a factor.



&#8220;It&#8217;s something for me to keep an eye on and take seriously,&#8221; said Emily, who is very health conscious. &#8220;That was probably the most valuable health information for me.&#8221;



<h2 class="wp-block-heading" id="h-a-dna-surprise">A DNA Surprise</h2>



After learning a bit more about her health, Emily turned to her ancestry reports. That was when her jaw hit the floor.



&#8220;I saw that I shared 25 percent of my DNA with someone I didn&#8217;t know,&#8221; Emily said.



Customers have the option of opting into the DNA Relatives feature. DNA Relatives connects customers to other 23andMe customers who have also opted in, from close relatives to more distant third or fourth cousins.



In Emily&#8217;s case, she and an unknown relative named Eric shared 25 percent of their DNA. The DNA Relative feature predicted Eric was her uncle. Emily is in her 30s, while Eric is in his 50s. She called her sister.&nbsp;



At first, she wondered if maybe her grandfather had had a child they never knew about, but quickly looking at a dropdown list of other relatives who share 25 percent, she saw that half-brother was one of them. That made more sense. Then, she read the information Eric shared in his profile. He had been adopted and didn&#8217;t know much about his birth parents, only that his mom was a teenager when he was born.&nbsp;



Emily wanted to understand the connection, so she sent Eric a message.&nbsp;



<h2 class="wp-block-heading" id="h-a-conversation-begins">A Conversation Begins</h2>



Eric responded quickly, and the two exchanged messages back and forth before getting on the phone to talk the next day. They quickly determined that Eric was Emily&#8217;s half-brother.



&#8220;I never dreamed I&#8217;d find a brother,&#8221; she said.



They quickly determined that perhaps when Emily&#8217;s dad was a 16-year-old high school student, he&#8217;d fathered a son he didn&#8217;t know about. Eric knew his birth mother&#8217;s name. Many years ago, he&#8217;d tried to contact her or her family, but her family turned him away.&nbsp;



He learned that she had passed away sometime after he&#8217;d reached out to her family. Emily wanted to see if her dad knew the name, so she found time to talk to her dad privately. She asked him if he remembered the woman&#8217;s name. He did. She told him about Eric. He was surprised but not as surprised as she thought he&#8217;d be. They then told Emily&#8217;s mom.&nbsp;



Emily&#8217;s dad then explained that he&#8217;d had a girlfriend for two years in high school. They were both very close. Her dad had had a rough couple of years after his mom had died when he was 12. He was kind of on his own, and at least from the outside, it might not have looked like he had a future. At some point, after he&#8217;d been in a bad car accident, his girlfriend&#8217;s father asked him what his intentions were toward his daughter. He&#8217;d told him he had strong feelings for her, but soon after that, the family moved. The relationship ended after that. Looking back, Emily said her father thinks that maybe his girlfriend&#8217;s parents whisked her away, fearing their daughter might marry someone with few prospects. It wasn&#8217;t long after that she had Eric and put him up for adoption.&nbsp;



<h2 class="wp-block-heading" id="h-building-family-nbsp">Building Family&nbsp;</h2>



While Emily wanted to be careful and sensitive during this process, she felt that her mom and dad were open to talking about it all and even to Eric.&nbsp;



At some point, after learning more about the back story, Emily got Eric on the phone.



After talking with everybody, Emily gave her dad some private time to talk to Eric and answer some of his questions.



&#8220;Hearing that they all appreciated how I handled it was important for me,&#8221; Emily said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg" alt="" class="wp-image-32426" style="aspect-ratio:1;object-fit:cover" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-scaled.jpeg 1923w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Not too long after, they all met at a park and had coffee. Soon, they were talking regularly. Emily&#8217;s dad, who liked to write poems, sent a couple of letters to Eric with poems he&#8217;d written. It was something he&#8217;d done for a long time for his daughters. Now they talk almost every day. A few months in, Eric and his wife came over for a cookout to meet the extended family, cousins, aunts, and uncles.&nbsp;



&#8220;Everyone welcomed him right away,&#8221; Emily said. &#8220;It&#8217;s like family now.&#8221;



<h2 class="wp-block-heading" id="h-building-relationships">Building Relationships</h2>



But they are all still getting to know each other. Emily and her sister and relatives immediately noticed the resemblance. Eric does look like one of Emily&#8217;s uncles. Everyone said he was family once they saw his picture or him in person. 



But there are other things beyond appearances. Eric owns a print shop, and there&#8217;s an artistic bent in the family, Emily said. There are mannerisms and this enormous love of animals that they all share. Eric has several dogs. Emily owns a menagerie of animals on the farm and is especially fond of parrots. Over time, Eric started referring to their dad as Pop, which Emily and her sister&#8217;s children call their dad. It also happens to be how people once shortened their Slovak last name. It&#8217;s as if they were all meant to connect.



&#8220;There are familial similarities, personality, ways we interact, and things,&#8221; said Emily. &#8220;There hasn&#8217;t been any awkwardness.&#8221;



<h2 class="wp-block-heading" id="h-connecting-it-all">Connecting it all</h2>



Emily is most proud that what could have been difficult or potentially painful was the opposite. She understands that this kind of family surprise doesn&#8217;t always end well. It can mean different things to different people.



She points out that Eric, who didn&#8217;t have connections to their biological family, is learning things many of us take for granted.&nbsp;



&#8220;Our genetics say so much about us and our family,&#8221; said Emily. &#8220;I mean, for someone who is adopted, knowing this health stuff can be so important. How would an adoptee know if, say, their grandfather had a thyroid condition or their dad had diabetes?&#8221;



But then there are many seemingly little things, &#8220;breadcrumbs,&#8221; as Emily says, that suddenly resonate or give context to their lives—things like personality, interests, and even their Slovak heritage.



&#8220;For him, it&#8217;s probably more helpful than I can imagine,&#8221; she said.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-disclaimer">Disclaimer</h2>



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports that are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks and report carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. 



Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.&nbsp;



<h2 class="wp-block-heading" id="h-warnings-amp-limitations-nbsp">Warnings &amp; Limitations:&nbsp;</h2>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. 



This report does not represent most of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers. The absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info/

Using DNA to Explore Health and Family Connections

Our customers have redefined prevention for us over the years. Hundreds of them have written to us, telling stories of how they’ve become the hero of their health journey. 



We are continually so inspired by their stories we recently launched a new campaign called The Hero Gene that celebrates some of those customers in their own words.



<h6 class="wp-block-heading" id="h-kenzie-and-shannon-s-brca1-story">Kenzie and Shannon’s BRCA1 Story</h6>



Kenzie and her mom, Shannon, are closer than the average mother and daughter, sharing a love of traveling together and their favorite foods. Kenzie knew there was Ashkenazi Jewish heritage in her background, but with no family history of breast cancer, she did not think there was a need to get screening for BRCA variants. Through 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report,* Kenzie learned she had a BRCA1 variant that put her at a greatly increased risk of developing breast and ovarian cancer.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1011" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg" alt="Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie's 16th birthday." class="wp-image-31684" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg 1011w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-296x300.jpeg 296w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-768x778.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-869x880.jpeg 869w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1165x1180.jpeg 1165w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1.jpeg 1170w" sizes="auto, (max-width: 1011px) 100vw, 1011px" /><figcaption class="wp-element-caption">Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie&#8217;s 16th birthday.</figcaption></figure>



Women with one of these variants have a <a href="https://www.23andme.com/brca">45-85 percent chance</a> of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. One of her first thoughts was, “Could my mom have cancer and not know it?” 



Kenzie immediately knew she had to call her mom.&nbsp;&nbsp;



“Mom, I have this gene, and I think you need to get tested.” 



Shannon made an appointment with her oncologist, where she shared the news about Kenzie’s report.  The oncologist referred her to a genetic counselor, who immediately set Shannon up for genetic testing. In addition, the genetic counselor suggested Kenzie talk to her doctor right away for follow-up testing.  After doing so, both were able to take steps to minimize their risks. While Kenzie is opting to go for a less aggressive route of frequent scans and discussing family planning options, Shannon (a cancer survivor) decided to go ahead with preventative surgeries to lower her risk of developing BRCA-associated cancers.  



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="683" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg" alt="A phot of Kenzie and her mom Shannon." class="wp-image-31685" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-200x300.jpeg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-768x1152.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-587x880.jpeg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-787x1180.jpeg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-scaled.jpeg 1707w" sizes="auto, (max-width: 683px) 100vw, 683px" /><figcaption class="wp-element-caption">Kenzie, left, with her mom Shannon.</figcaption></figure>



The experience has taught both women how important it is to educate themselves about their health risks, to be proactive about their well-being, and to advocate for themselves to ensure they get the care they need.&nbsp;



“Kenzie’s test and me being able to find out that I was BRCA positive was lifesaving,” said Shannon.&nbsp;



As they prepare to share another holiday together, closer than ever, Kenzie couldn’t help but beam when talking about Shannon, “I&#8217;m really proud of my mom, she&#8217;s taken her health into her hands. Her life is the most important thing to me. She wanted to show me that she will survive.”



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
https://www.youtube.com/watch?v=bI6nxWiqpGE
</div></figure>



<h6 class="wp-block-heading" id="h-melissa-s-f5-story">Melissa’s F5 Story</h6>



Melissa developed symptoms of a pulmonary embolism (PE), a blood clot in the lung, after a cross-country flight from Washington to Boston for a nurses conference. As a nurse, Melissa knew her symptoms weren&#8217;t typical but knowing she had an increased likelihood to develop harmful blood clots based on a factor V Leiden variant found by her 23andMe Hereditary Thrombophilia Genetic Health Risk report* prompted her to go to the ER before taking a return flight home.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-2.jpg" alt="" class="wp-image-32365" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



Trusting her nurse’s instinct, she pushed to get evaluated a PE. 



“I am not typically … insistent, but I was really insistent on this. I am absolutely sure it&#8217;s going to happen again and I may not have another chance. And I wasn&#8217;t willing to take that chance again.” They confirmed via a blood test and CAT scan that she had developed a PE.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-1.jpg" alt="" class="wp-image-32364" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



She began taking a blood thinner right away so she could fly home. Melissa credits her knowledge of the gene with empowering her to take her health into her own hands, which means even more this time of year.  “My family is sacred to me. It truly is all that matters. I would not have been able to meet my new granddaughter. I truly believe I’m here because of 23andMe. Because I was aware of that gene, and my doctors were aware of that gene, that continues to save my life.”



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
https://www.youtube.com/watch?v=-zLbFwbXH7c
</div></figure>



<h6 class="wp-block-heading" id="h-which-gene-could-empower-you">Which gene could empower you?</h6>



As we’ve heard from these and so many more customers, prevention doesn’t have to be a burden. In fact, it shouldn’t be a burden. Prevention is about advocating for yourself, and your health, so you can continue to live an incredible life for you, your family and friends. That starts with genetic insights that could lead to early detection. We hope you find your customer story. Your gene or genes that empower you, inspire you, help you and that could potentially save your life at the time you need the information most. #prevention



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h6 class="wp-block-heading" id="h-note">Note</h6>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is&nbsp; not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 



<h6 class="wp-block-heading" id="h-warnings-amp-limitations">Warnings &amp; Limitations: </h6>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info.&nbsp;

Your Hero Gene

<h5 class="wp-block-heading" id="h-data-initiative-accelerates-access-to-vital-genetic-and-clinical-insights">Data initiative accelerates access to vital genetic and clinical insights</h5>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1200" height="675" src="http://35.88.189.111/wp-content/uploads/2025/09/lung-double-edited-2.png" alt="Illustration of lungs on a background with a larger illustration of lungs" class="wp-image-34192" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2.png 1200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2-300x169.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2-1024x576.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2-768x432.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2-880x495.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/lung-double-edited-2-1180x664.png 1180w" sizes="auto, (max-width: 1200px) 100vw, 1200px" /></figure>



At the 2025 World Conference on Lung Cancer in Barcelona, the 23andMe Research Institute, in collaboration with Troper Wojcicki Philanthropies and the health data software company Lifebit, introduced an open-source platform that could help fast-track research discoveries through a powerful new cancer data repository.



The announcement comes just a year after the start of the<a href="https://www.23andme.com/lung-cancer" target="_blank" rel="noreferrer noopener"> Lung Cancer Genetics Study</a>, spearheaded by 23andMe and bringing together more than 20 lung cancer advocacy and science organizations to recruit 10,000 people diagnosed with lung cancer. Their goal is to develop new ways to identify those at highest risk for lung cancer early, while also finding possible new treatments for this deadly cancer.



<h2 class="wp-block-heading">The Personal Drive Behind the Mission</h2>



The effort is personal for many of the advocates who are part of the collaboration and also for Anne Wojcicki, founder and CEO of the 23andMe Research Institute. Anne&#8217;s sister Susan Wojcicki died of lung cancer last year, just as the study began.



&#8220;My sister was passionate about understanding the science behind lung cancer so future generations could prevent the disease and treat it. The Lung Cancer Genetics Study is a step towards achieving that.” Anne said.



In the months before her death, <a href="https://blog.23andme.com/articles/a-legacy-of-hope-in-the-fight-against-lung-cancer" target="_blank" rel="noreferrer noopener">Susan had been very involved in helping to create the study with the hope that it could help others</a>. The idea was not just to leverage genetic data for insights into lung cancer but also to create a repository of data that would be available to as many qualified researchers as possible.&nbsp;



The platform — created through the collaboration between the 23andMe Research Institute, Troper Wojcicki Philanthropies, and Lifebit — offers a secure, open-source data platform for researchers to access this novel dataset. Powered by Lifebit&#8217;s Health Data Ecosystem, the platform provides qualified researchers with no-cost access to de-identified data from people diagnosed with lung cancer who have consented to participate in this research.&nbsp;



&#8220;More people die of lung cancer each year than breast, colon, and prostate cancer combined, yet it is one of the least funded for research. It’s important for this powerful new tool to be available at no cost to qualified researchers so that the best minds can work on unlocking the genetic insights that may lead to a cure,&#8221; said Anne.



<h2 class="wp-block-heading">Building a One-of-a-Kind Data Resource</h2>



Since launching the <a href="https://blog.23andme.com/articles/23andme-launches-new-genetic-study-of-lung-cancer" target="_blank" rel="noreferrer noopener">Lung Cancer Genetics Study</a>, more than 1,200 people diagnosed with lung cancer have enrolled to participate in the research. The goal is to enroll 10,000 people by 2027, but the study has already assembled one of the most diverse cohorts ever for lung cancer genetic research.&nbsp;



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="464" src="http://35.88.189.111/wp-content/uploads/2025/09/teal_waldos-1024x464.jpg" alt="" class="wp-image-34183" style="width:242px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/teal_waldos-1024x464.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/teal_waldos-300x136.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/teal_waldos-768x348.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/teal_waldos-880x399.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/teal_waldos-1180x534.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Genetics is just one of many factors involved in why some people develop lung cancer. Exposure to tobacco smoke is perhaps the best-known risk factor; however, <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2409903/" target="_blank" rel="noreferrer noopener">80 to 90%</a> of people with a history of tobacco exposure never get lung cancer, and many people without tobacco exposure get the disease. These facts underscore the importance of investigating other, less well-known risk factors, like air pollution, radon exposure, and workplace-related exposures.



And there&#8217;s much more we don&#8217;t know about lung cancer. Many do not realize, for instance, that lung cancer is the <a href="https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2025/2025-cancer-facts-and-figures-acs.pdf" target="_blank" rel="noreferrer noopener">number one cause of cancer death in women</a> and <a href="https://www.massgeneralbrigham.org/en/about/newsroom/articles/most-common-cancers-in-women#:~:text=It%20may%20not%20surprise%20you,in%20women%20and%20people%20AFAB." target="_blank" rel="noreferrer noopener">the second most common cancer in women</a>. Although lung cancer overall is decreasing because of declines in tobacco use, lung cancer among people who have never smoked <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431055/#:~:text=As%20expected%2C%20the%20primary%20factor%20leading%20to,non%2Dsmokers%20has%20been%20noted%20to%20be%20increasing." target="_blank" rel="noreferrer noopener">is stable or increasing</a>, and <a href="https://www.webmd.com/lung-cancer/features/lung-cancer-women-who-never-smoked" target="_blank" rel="noreferrer noopener">two-thirds of people diagnosed with lung cancer with no smoking history are women</a>.&nbsp;



Understanding the genetics of lung cancer may help unravel some of the factors underlying those statistics. Additionally, learning more about the underlying genetics could provide researchers with more insight into the biological mechanisms of the disease, aiding in the development of improved therapies and new diagnostics.&nbsp;



The de-identified data that participants in the Lung Cancer Genetic Study consented to share isn’t limited to just genetics. Many participants also chose to provide self-reported clinical, lifestyle, and even tumor biomarker data. The study will also follow participants over time, gathering important longitudinal data to help researchers understand the progression of cancer as well as the response to treatments.&nbsp;



<h2 class="wp-block-heading">Empowering Researchers</h2>



By opening up access to qualified researchers, the collaborators aim to address significant gaps in current lung cancer research, break down institutional silos, and remove barriers to dataset access, thereby accelerating research progress.&nbsp;



&#8220;We&#8217;re delivering more than a data system — we&#8217;re enabling an entirely new model for research equity and access,&#8221; said Nadia Litterman, PhD, Director of Scientific Affairs and Partnerships at Troper Wojcicki Philanthropies.



<h2 class="wp-block-heading">Find Out More</h2>



Anyone who has been diagnosed with lung cancer can learn more and enroll in the study at<a href="http://23andme.com/lung-cancer" target="_blank" rel="noreferrer noopener"> 23andme.com/lung-cancer</a>.



Interested researchers can begin the data access request process by contacting TWP study program manager Caitlin Nichols at <a href="mailto:caitlin@twphilanthropies.org">caitlin@twphilanthropies.org</a>.&nbsp;

Illustration of lungs on a background with a larger illustration of lungs

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

Health Huddle LIVE from New Orleans brought together top athletes, medical professionals, and community leaders for powerful conversations on health, genetics, and early detection. Hosted at Dillard University during Super Bowl Week, the event was part of 23andMe’s Community Health Huddle, featuring expert panels and free health screenings. 



Watch the Highlights: 



<figure class="wp-block-embed alignwide is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="The 23andMe Health Huddle: Live from New Orleans" width="500" height="281" src="https://www.youtube.com/embed/5hOR4o5PkAU?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



<h2 class="wp-block-heading" id="h-experts-athletes-amp-actionable-insights">Experts, Athletes &amp; Actionable Insights</h2>



Panelists included Dr. Jen Caldwell, Dr. Joel Bervell, and Dr. Mathew Knowles—a breast cancer survivor and 23andMe Global Brand Ambassador—who shared personal stories and insights on health disparities, preventive medicine, and genetic testing. They were joined by NFL Total Health Ambassadors, highlighting how genetic insights shape performance, recovery, and longevity in sports.



<h2 class="wp-block-heading" id="h-key-takeaways">Key Takeaways</h2>



<ul class="wp-block-list">
<li>Genetic Testing Saves Lives – Understanding your genetic risks enables early detection and prevention, reducing the burden of chronic diseases. </li>



<li>Your Family History is Your Health Roadmap – What runs in your family doesn’t have to define your future, but knowing your risks empowers healthier decisions. </li>



<li>Health Inequities Must Be Addressed – Underserved communities continue to lack access to vital genetic and preventive care. This must change. </li>



<li>Athletes Rely on Science to Perform &amp; Recover – The same genetic insights that help pros optimize their health can help everyone make more informed health choices.</li>
</ul>



<h2 class="wp-block-heading" id="h-beyond-the-event-driving-change">Beyond the Event: Driving Change</h2>



Health Huddle LIVE reinforced a core truth: genetic insights aren’t just about ancestry—they’re a tool for taking control of your health and advocating for better healthcare access. By bringing together medicine, sports, and community leadership, 23andMe continues to lead the movement for health equity and empowerment.



 #HealthHuddleLIVE #GeneticHealth #CommunityWellness

Inside Health Huddle LIVE: Athletes, Experts & Doctors on Longevity, Genetics & Wellness

September is Sickle Cell Awareness Month, which offers us another chance to highlight some of the work 23andMe and its collaborators have done over the years.



Earlier this month, researchers from 23andMe,<a target="_blank" href="https://www.nih.gov/" rel="noreferrer noopener"> the the National Institutes of Health</a>, and <a target="_blank" href="https://www.hopkinsmedicine.org/som/" rel="noreferrer noopener">Johns Hopkins University School of Medicine</a> published new data on the association between sickle cell trait and blood clots. The new findings highlight the importance of this ongoing research and our overall efforts to illuminate this condition.



At 23andMe, knowledge is power, and understanding risks offers people opportunities to mitigate them.&nbsp;



<h2 class="wp-block-heading" id="h-awareness-and-research">Awareness and Research</h2>



But more than that, 23andMe also offers a unique research model that allows individuals to learn about their genetic likelihood of developing a condition and participate in innovative genetic research that could potentially find new treatments.



As part of our <a href="http://www.23andme.com/sickle-cell" target="_blank" rel="noreferrer noopener">Sickle Cell Carrier Status Awareness Program</a>, 23andMe has collaborated with academics and advocacy organizations to increase <a href="https://blog.23andme.com/articles/sickle-cell-awareness-2">understanding of sickle cell</a>. In addition, we’re providing resources for those with sickle cell trait and sickle cell disease. With the help of the<a href="https://www.sicklecellga.org/" target="_blank" rel="noreferrer noopener"> Sickle Cell Foundation of Georgia, Inc. (SCFG)</a>,<a href="https://www.btsscycle.org/" target="_blank" rel="noreferrer noopener"> Breaking the SSickle Cell Cycle</a>,<a href="https://www.sc101.org/" target="_blank" rel="noreferrer noopener"> Sickle Cell 101</a>, and the<a href="https://www.msm.edu/" target="_blank" rel="noreferrer noopener"> Morehouse School of Medicine</a>, we’re working with Black communities to promote awareness. 



We are not alone in this effort. Recently, the NBA, the WNBA, and Wilson Sporting Goods began the #IBall4SickleCell social media campaign to raise awareness. The groups participating in the effort are Breaking the SSickle Cell Cycle, the American Red Cross of Tennessee, and New York Presbyterian’s Dalio Center for Health Justice. Learn more about sickle cell, the campaign, and how to help<a href="https://www.sicklecellball.com/" target="_blank" rel="noreferrer noopener"> here</a>. 



From all this work and research, we have learned much about sickle cell and the people it impacts most. However, much work is still needed to improve people’s understanding of sickle cell.



<h2 class="wp-block-heading" id="h-more-on-sickle-cell-anemia-sickle-cell-trait">More on Sickle Cell Anemia, Sickle Cell Trait</h2>



Although many people have heard of sickle cell, often they do not know the difference between sickle cell trait and sickle cell anemia.



To have sickle cell anemia, one must inherit two copies of the HbS variant in the HBB gene—one copy from each biological parent. Typical signs and symptoms include anemia, pain episodes, and frequent infection.



People with just one copy of the HbS variant are called carriers. They’re also said to have <a target="_blank" href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" rel="noreferrer noopener">sickle cell trait</a>. People with sickle cell trait are not expected to have sickle cell anemia. They typically do not experience any health complications. However, in rare cases, people with the sickle cell trait may experience some health impacts. Current research, including our study, is underway to understand better and spread awareness about the complications someone with SCT may experience.



Importantly, carriers can pass their variant on to their future children. If their partner has the HbS variant or another variant in the HBB gene, there’s a 25 percent chance that each child may have sickle cell anemia or a related blood disorder.&nbsp;&nbsp;



<h2 class="wp-block-heading" id="h-23andme-s-sickle-cell-anemia-carrier-status-report">23andMe’s Sickle Cell Anemia Carrier Status Report**</h2>



23andMe’s<a target="_blank" href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/" rel="noreferrer noopener"> Sickle Cell Anemia Carrier Status Report</a>, which meets FDA requirements for clinical and analytical validity, looks at the HbS variant in the HBB gene linked to sickle cell anemia.



Sickle cell anemia is the most severe form of sickle cell disease. Three hundred million people worldwide and one in 13 Black and African Americans in the United States have sickle cell trait, making them carriers for sickle cell anemia.



In addition to informing people if they have one copy of the HbS variant and are carriers for sickle cell anemia, <a href="https://blog.23andme.com/articles/23andme-updates-carrier-status-report-on-sickle-cell-anemia">23andMe’s report </a>can also tell individuals if they have two copies of the tested variant and if they are at risk of developing symptoms. However, the report does not describe one’s overall risk of developing symptoms. 



Because the HbS variant is more common in certain populations, the Sickle Cell Anemia report is most relevant to people of African, Middle Eastern, and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



23andMe Health + Ancestry Service customers and 23andMe+ Premium members can see their <a target="_blank" href="https://you.23andme.com/reports/carrier.sickle_cell_anemia/" rel="noreferrer noopener">Sickle Cell Anemia report here</a>.&nbsp;



Not yet a customer? Learn more about <a target="_blank" href="https://www.23andme.com/compare-dna-tests/?_gl=1*11ns9j4*_ga*OTk4NDAyMjA3LjE3MTgzODA2MTg.*_ga_G330GF3ZFF*MTcyNTQxNDcyOS4xNjQuMS4xNzI1NDE0Nzk4LjAuMC4w" rel="noreferrer noopener">all that 23andMe offers here</a>.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-note">Note:</h2>



**The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults to report carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. We provide a single report for certain conditions that includes information on carrier status and genetic health risk. For important information and limitations regarding other genetic health risk reports and carrier status reports, click <a target="_blank" href="https://www.23andme.com/test-info/" rel="noreferrer noopener">here</a>.

An illustration for 23andMe's Sickle Cell Carrier Statues Awareness Program.

Learn More About Our Research and Collaborations During Sickle Cell Awareness Month

Editor&#8217;s note 7/8/2024: This post has been updated since 2020. In addition, We do not support uploading DNA data obtained from other testing services to 23andMe. This article explains the risks of uploading your DNA data to third party services.
With all of <a class="waffle-rich-text-link" href="https://www.23andme.com/compare-dna-tests/">23andMe&#8217;s services</a>, you’re in charge of your genetic data. That means we let you decide what information you want to learn and what information you want to share. However, you need to be informed about the risks of sharing your genetic data with other services. This includes understanding the implications if you decide to upload DNA to 23andMe or any third-party service.
After receiving <a class="waffle-rich-text-link" href="https://www.23andme.com/dna-reports-list/">personalized genetic reports</a> from 23andMe, customers can choose to download their raw DNA data. Some customers may do this to upload their data to third-party services, which offer to interpret their raw DNA data to find new genetic relatives or get additional genetic reports. However, 23andMe cannot vouch for the scientific validity or accuracy, or clarity in communication of results of any such third-party services. In fact, only 23andMe offers a consumer genetic test with health reports that have FDA&#8217;s independent assurance of validity and clear results (without requiring a prescription).
Beyond concerns about scientific validity, uploading your raw DNA data to a third-party service can also put <a href="https://www.23andme.com/privacy/">your data privacy</a> at risk. In part, this is why 23andMe provides important warnings to its customers before they choose to download.
<h2>What are some of the risks of uploading your DNA data to a third-party website? </h2>
<div id="attachment_27862" style="width: 310px" class="wp-caption alignright"><a href="https://blog.23andme.com/articles/how-to-be-careful-with-your-raw-dna-data/what-is-dna-upload" rel="attachment wp-att-27862"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27862" class="size-medium wp-image-27862" src="http://35.88.189.111/wp-content/uploads/2020/01/What-is-DNA-Upload-300x128.jpg" alt="An illustration of the steps for downloading data." width="300" height="128" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/What-is-DNA-Upload-300x128.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/What-is-DNA-Upload.jpg 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /></a>Most consumer genetics companies, including 23andMe, allow you to download your own raw DNA data. At that point, the customer is free to do what they like with their raw DNA data, such as deciding to upload that raw DNA data to third-party services.</div>
At 23andMe, we’re clear with our users about the risks of using third-party services that provide additional health, wellness or trait insights. This is because only select genotype data used specifically in our Health reports have been individually validated for accuracy. While the rest of your data has undergone a general quality review, it has not been validated to the extent of the data underlying our official 23andMe reports. As a result, raw DNA data should not be used for medical purposes and we do not recommend the use of third-party services that claim to interpret raw DNA data to provide health information.
Consumers also cite concerns about law enforcement uploading crime-scene DNA data to third-party services to crack a cold case. Simply put, uploading crime-scene DNA data into the 23andMe environment is not possible because we do not support the upload of DNA data that has been processed by a third-party laboratory.
Further, 23andMe’s <a href="https://www.23andme.com/transparency-report/">Transparency Report</a> details our policy against releasing customer’s individual DNA data to any third party &#8211; including law enforcement &#8211; without receiving the customer’s explicit consent, unless required by law.
However, this concern about law enforcement upload of crime scene DNA data is a real one that we warn customers about should they choose to upload their DNA data to other third party platforms, including public genealogy services or other third party services that facilitate DNA data upload.
But there’s another form of vulnerability that’s less well-understood: Within databases that allow for raw DNA data uploads with access to relative matching features, people with malicious intent can upload real or fake “<a href="https://en.wikipedia.org/wiki/Trojan_horse_(computing)">Trojan Horse</a>” genetic profiles for access to your personal identifying information. They could even infer your specific DNA variants—such as information about any disease risk variants you might carry. This is one reason why we don&#8217;t support uploading DNA to 23andMe.
<h2>How can that happen?</h2>
<ul>
<li>Many relative-matching services allow you to see the exact section or sections of DNA you share with each relative.*</li>
<li>If uploading DNA data is allowed, it means you no longer know for sure that your relative’s profile is actually controlled by your relative, and a malicious actor could upload real or fake DNA data to deduce information about you based on sections of matching DNA, including any disease risk variants you might have.</li>
<li>Even if shared segments aren’t shown, there are still ways that people with malicious intent can deduce some of your DNA variants.</li>
</ul>
<img loading="lazy" decoding="async" class="size-medium wp-image-27863 alignright" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/How-Uploading-Creates-Risk-300x202.jpg" alt="" width="300" height="202" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/How-Uploading-Creates-Risk-300x202.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/How-Uploading-Creates-Risk.jpg 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This vulnerability was recently described in two reports: one at the University of Washington and another at the University of California, Davis. The authors of these reports explain several ways an “adversary” can deduce people&#8217;s genotypes “either at key positions or at many sites genome-wide” in databases that allow DNA data uploads with relative matching. This highlights the risks associated with uploading DNA to 23andMe or similar services.
Both reports outline specific ways for services to mitigate risk, such as limiting the information displayed in relative-matching features.
While these practices may reduce risk, we believe the simplest and most effective defense is to not allow individuals genotyped through other testing services to upload their DNA data to 23andMe for the purpose of discovering genetic relatives.
In the past, 23andMe has allowed DNA uploads from other consumer genetic testing services in very specific circumstances. Specifically, on DNA Day in April 2018, 23andMe allowed individuals who tested at other companies to upload their results to access a subset of our trait reports, but 23andMe has not enabled the discovery of new relatives for these accounts.
<h2>How does 23andMe ensure that only real, consenting individuals participate in our service? </h2>
In a word, spit.
When you spit into the tube, you’re embarking on the adventure of a lifetime. You’re also trusting 23andMe with some of your most personal information.
Requiring a saliva sample is how 23andMe is able to verify that you’re a real person who chose to participate in the service. While it might be easy to upload fake DNA data, it’s another matter entirely to fake a spit sample, which requires filling a tube with more than two milliliters of spit. It’s how you know that “Linda-your-4th-cousin-who-you-didn’t-know-existed” is a real person who chose to do 23andMe. Linda had to spit in a tube, too.
<h2>What are some key questions you should ask?</h2>
When considering whether or not to upload your raw DNA data to another website, we encourage you to familiarize yourself with their privacy and security policies before you upload your raw DNA data.
Make sure to consider the following questions:
<ol>
<li>Before you upload your DNA data, ask yourself: do I really need to do this? Am I willing to risk the security and privacy of my DNA data by uploading it to a third-party service?</li>
<li>Do your research! Does the third-party service have a track record of strong privacy and data security?</li>
<li>How will the third-party service use your information?  How can your information be further shared with other third parties?</li>
<li>If you are not interested in discovering new relatives but you want additional DNA insights, does the other service explicitly exclude features relating to discovering genetic relatives?</li>
</ol>
An earlier article detailing our stance on protecting customers’ data is available <a href="https://blog.23andme.com/news/our-stance-on-protecting-customers-data/">here</a>. 
<h2>Learn More</h2>
Find out if your <a href="https://www.23andme.com/test-info/genetic-health/">genetics</a> might Increase your risk for any health conditions with 23andMe.
You can also Learn more about common risks associated with uploading raw DNA online and how to protect your DNA information.
*By default, 23andMe does not display your ancestry information or DNA segment information to relatives or connections until you decide to share it with them.

Can You Upload DNA Data to 23andMe? 

Editor&#8217;s note: (June 4, 2024) This post has been changed since it was first published.
The Royal House of Habsburg, one of the most powerful dynasties of Medieval and Renaissance Europe, reigned over much of Europe for centuries. But genetic inheritance and the perils of inbreeding may explain their demise.
Like <a href="https://blog.23andme.com/articles/researchers-discover-the-true-identity-of-the-royal-disease">many royal families</a>, their expansion and hold on power came about in part through inter-family marriages. But over time, generation after generation of inbreeding helped contribute to some of the physical ailments that often plagued the family and the distinctive look with their big lower lips, long noses, and the unique “Habsburg jaw.” Research published in the <a href="https://www.tandfonline.com/doi/full/10.1080/03014460.2019.1687752?scroll=top&amp;needAccess=true&amp;">Annals of Human Biology</a> describes how this inbreeding likely doomed the dynasty.
(We can&#8217;t tell you if you&#8217;re a royal, but you can learn more about your ancestry and family tree with 23andMe&#8217;s DNA Ancestry service or sign up for a <a href="https://www.23andme.com/membership/">membership</a> for advanced ancestry reports and features.)<img loading="lazy" decoding="async" class="alignright wp-image-27824 size-medium" title="Habsburg Inbreeding" src="http://35.88.189.111/wp-content/uploads/2019/12/Habsburgs-236x300.png" alt=" Charles II of Spain, showing the Habsburg jaw, a result of inbreeding
" width="236" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs-236x300.png 236w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs-768x974.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs-807x1024.png 807w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs-694x880.png 694w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs-930x1180.png 930w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/12/Habsburgs.png 1024w" sizes="auto, (max-width: 236px) 100vw, 236px" />
<h2>Understanding Consanguinity: Inbreeding&#8217;s Role in Genetic Disorders</h2>
Inbreeding is when two closely related individuals, who inherited some identical segments of DNA from the same ancestor(s), have children. The term genetic counselors typically use for inbreeding is “consanguinity,” which means “of the same blood” and is pronounced, “con-san-gwinity.”
The degree of relationship between the two individuals matters a lot. Children of parents who are brother and sister are more consanguineous (“con-sang-win-us”) than the children of two people who are first cousins. For similar reasons, consanguinity within the same family over multiple generations increases the risk for hereditary disorders in more than one isolated instance of a consanguineous union in a family tree.
Beginning in the early 12th century, they quickly expanded their realm. They did this through a series of strategically executed marriages, from the mountains of Switzerland to a territory that included swaths of Austria, Hungary, Italy, France, and Spain. The Spanish branch of the Habsburg dynasty helped create an empire that reached its apex in the 16th and 17th centuries. They controlled land from the Philippines to the Americas.
Yet the Habsburgs are known not only for controlling vast tracts of Europe but also for maintaining control by rarely marrying outside the dynasty.   
<h2>Habsburg Inbreeding</h2>
By the end of the 17th century, the results of their marital practices had become apparent. Family members had distinctive protruding lips, a high rate of infant mortality and a host of other health problems.
Could the same marital practices that helped bring the Habsburg dynasty to power also have led to its demise?
In <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005174" target="_blank" rel="noopener noreferrer">PLoS One</a>, scientists from Spain&#8217;s University of Santiago de Compostela argue it did. They said that inbreeding so incapacitated the Habsburgs that by the death of King Charles II of Spain in 1700, they were virtually unable to reproduce.
From 1516 to 1700, it has been estimated that over 80% of marriages within the Spanish branch of the Habsburg dynasty were consanguineous. In other words, they were marriages between close blood relatives. These unions often took the form of marriages between first cousins, double-first cousins, and uncles/nieces.   Infant and child mortality rose to 50% among Spanish Habsburgs, much higher than the average for the period.
<h2>The Tragic Reign of Charles II: A Victim of Inbreeding?</h2>
However, the final Habsburg king of Spain, Charles II, was perhaps the most unfortunate result of these unions.   Also known as &#8220;El Hechizado&#8221; (&#8220;The Hexed&#8221;), Charles was severely deformed.   The so-called &#8220;Habsburg Lip&#8221;, a form of mandibular prognathism often seen among members of the Habsburg Dynasty, was so pronounced in Charles&#8217; case. So much so that it was difficult for him to speak.   An enlarged tongue, gastrointestinal problems, mental retardation, and possible growth problems meant that Charles was raised almost as an infant until the age of 10.   Even as he grew older, he was never able to govern effectively.   His rule saw the rapid decline of the Empire, only exacerbated by his death in 1700.
However, there has been little scientific research for all the speculation and anecdotal evidence of the negative impact of inbreeding on the House of Habsburg. So, there is no hard evidence of whether inbreeding actually played a role in the demise of the Hapsburg line.   The authors of this study sought to achieve this goal by examining genealogical information. To do that, they looked at family pedigrees for the eight royal families connected with the Habsburg dynasty.
<h2>Quantifying Royal Inbreeding: The Habsburg Family Tree Analysis</h2>
They analyzed the family pedigrees of over 3,000 individuals spanning 16 generations. They then used this information to calculate the inbreeding coefficient for each family member. The inbreeding coefficient is simply a measure of the chance that someone will receive identical genes from both parents.
Unsurprisingly, the authors found elevated inbreeding coefficients for many Habsburgs.   In fact, the levels increase consistently from the earliest Spanish Habsburgs. This goes from King Philip I (1478-1506) to the last Spanish Habsburg king Charles II.   Some of the Habsburgs &#8211; notably Charles II &#8211; had an inbreeding coefficient nearly twice what one would expect, given the level of relatedness between his mother and father.   In other words, although Charles&#8217; parents were related to each other as uncle and niece, his inbreeding coefficient fell at the same level as someone whose parents were brother and sister.
These unexpectedly high levels indicate consanguineous marriages, like that of Charles&#8217; parents. These unions had been happening along the Habsburg line for hundreds of years. This practice came to a head with the birth of Charles, whose inbreeding coefficient was the highest of all the Spanish Habsburgs. His physical deformities were also the most severe.
Further, the authors argue that Charles&#8217; ill health directly resulted from centuries of consanguineous unions. Expressly, they point to a growth hormone deficiency and severe renal tubular acidosis. These may have accounted for his short stature and many physical deformities and ailments.   These diseases are pretty rare in the general population. But the fact that so many of Charles&#8217; ancestors were related to each other would have increased his chances of inheriting the genes associated with them.   Whether Charles suffered from these specific diseases is still open to interpretation. However, his physical and mental difficulties prevented him from fathering any heirs to the throne.
The Habsburg dynasty in Spain ended when Charles passed away in 1700, a few days shy of his 39th birthday.
<h2>Genetics and Personalized Health in the 21st Century</h2>
The Habsburg dynasty&#8217;s story highlights genetics&#8217; profound impact on health and well-being, a reality that resonates even more strongly in the 21st century. Today, advancements in genetic research have opened up a new frontier in personalized healthcare.
Understanding one&#8217;s genetic makeup can provide insights into potential health risks, carrier status for certain conditions, and how individuals might respond to different medications. This knowledge empowers individuals to make informed decisions about their health, from lifestyle choices to proactive screenings and treatments.
23andMe, at the forefront of personal genetics, provides individuals with access to this valuable information. While rooted in the past, the Habsburg narrative serves as a compelling reminder of the power of genetics in shaping health outcomes.
Find out if your <a href="https://www.23andme.com/test-info/genetic-health/?_gl=1*1xgbpjj*_ga*MTczMTM3NTg5LjE3MTY0MjQ4MzE.*_ga_G330GF3ZFF*MTcxNjQ0OTk1Ny40LjEuMTcxNjQ1MDA2MC4wLjAuMA..">genetics</a> might Increase your risk for any health conditions with 23andMe.

The Habsburg Jaw: How Inbreeding Ended a Dynasty

There’s a day for almost everything, so, of course, there’s an international <a href="https://www.dailymail.co.uk/femail/food/article-8038499/People-celebrating-International-Hate-Coriander-day.html">“I Hate Coriander Day.”</a>



Coriander, also known as cilantro, is one of the most commonly used herbs in the world, but people&#8217;s preferences for this little leafy green are one more thing that divides them.



For some, it is baffling why anyone would feel passionate loathing for an ingredient that brings a distinctive tang to their guacamole. Meanwhile, others cringe in disgust at tasting anything with what they think of as a <a href="https://en.wiktionary.org/wiki/devil%27s_herb">“devil herb.”</a>



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="257" height="192" src="http://35.88.189.111/wp-content/uploads/2018/06/Cilantro-Aversion.jpg" alt="An image of a cilantro leaf and the chemical compound." class="wp-image-26278"/></figure>



(23andMe customers can learn about the genetics of their <a href="https://you.23andme.com/reports/trait.cilantro_taste/">Cilantro taste preference in their trait report</a>. If you&#8217;re curious about this or other reports but not a customer, check out our <a class="waffle-rich-text-link" href="https://www.23andme.com/compare-dna-tests/">DNA Tests</a> to get a customized genetic traits report.)



<h2 class="wp-block-heading" id="h-cilantro-tastes-like-soap-it-could-be-your-genetics">Cilantro Tastes Like Soap? It Could Be Your Genetics.</h2>



As one former 23andMe blogger said in an old ode to cilantro hatred:



“For years, I believed that every Mexican restaurant my family took me to had some kind of problem with their dishwashing machine. Why else would the food always taste like soap?”



Many people have no idea that this leafy green herb can cause such repulsion, much to the chagrin of those who find it foul. For some, cilantro tastes like soap. To others, it can taste like stink bugs, dirt, or — if they’re really dramatic – anarchy, pure evil, or the plague.



<h2 class="wp-block-heading" id="h-cilantro-taste-aversion">Cilantro Taste Aversion</h2>



Like with anything that divides people, it’s helpful to understand where the other side is coming from. We at 23andMe are here to help with some science.



Several years back, 23andMe scientists<a href="https://flavourjournal.biomedcentral.com/articles/10.1186/2044-7248-1-22" target="_blank" rel="noreferrer noopener"> </a><a href="https://flavourjournal.biomedcentral.com/articles/10.1186/2044-7248-1-22">found a &#8220;genetic component to cilantro taste perception.”</a> The findings suggested that genetic variants in the olfactory receptors may contribute to some people’s distaste for cilantro.



23andMe also offers customers a Cilantro Taste Aversion Trait Report that looks at two genetic variants associated with a dislike for cilantro and can tell you if you have slightly higher or lower odds of disliking the herb.



While genetics plays a role, culture and environment do, too. Some of that may explain the differences between people of different ancestries. In the 23andMe study, 14-21 percent of people of East Asian, African, and Caucasian ancestry disliked cilantro. In contrast, only 3-to-7 percent of those who identified as South Asian, Hispanic, or Middle Eastern disliked it.



But clearly, your environment or your cultural cuisine isn’t everything. Genetics also plays a role in this love-hate relationship.



<h2 class="wp-block-heading" id="h-cilantro-amp-genetics">Cilantro &amp; Genetics</h2>



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
Cilantro taste in 23andMe customers Cilantro soapy-taste by ancestry
<table>
<tbody>
<tr>
<td>Ashkenazi Jewish</td>
<td>14.1%</td>
</tr>
<tr>
<td>Southern European</td>
<td>13.4%</td>
</tr>
<tr>
<td>Northern European</td>
<td>12.8%</td>
</tr>
<tr>
<td>African-American</td>
<td>9.2%</td>
</tr>
<tr>
<td>Latino</td>
<td>8.7%</td>
</tr>
<tr>
<td>East Asian</td>
<td>8.4%</td>
</tr>
<tr>
<td>South Asian</td>
<td>3.9%</td>
</tr>
</tbody>
</table>
Sex differences in cilantro taste perception
<table>
<tbody>
<tr>
<td>&nbsp;</td>
<td>Female vs. Male</td>
</tr>
<tr>
<td>Tastes soapy</td>
<td align="right">57% vs. 43%</td>
</tr>
<tr>
<td>Doesn&#8217;t taste soapy</td>
<td align="right">49% vs. 51%</td>
</tr>
</tbody>
</table>
</div>



Humans have hundreds of receptors that send signals to our brains to produce what we recognize as aromas and flavors.



However, this is complex and differs from person to person. For example, the same chemical can be found in appealing and unappealing places — cheese and body odor. Conversely, the same ingredient — such as cilantro — can contain both pleasant and unpleasant chemicals. Whether stinky cheese and cilantro are delicious or disgusting depends on your perception of many different substances.



The two genetic variants used in 23andMe’s Cilantro Taste Aversion trait report are in a cluster of olfactory receptor genes. These are biological sensors that detect chemicals in the air and in food. These receptor genes are also linked to the ability to detect aldehydes, chemical compounds found in soap, which are thought to be a significant component of cilantro aroma.



<h2 class="wp-block-heading" id="h-supertasters">Supertasters</h2>



One type of aldehyde has been described as “fruity” and “green,” and another as “soapy” and “pungent.”



One of the eight genes near the variants 23andMe uses in its report codes for a receptor called OR6A2, known to detect aldehydes such as those found in cilantro. Although this finding proves that genetic variation in olfactory receptors is involved in cilantro taste perception, common genetic variants explain only a tiny part of the difference — a half percent — between 23andMe customers for this trait.



This doesn’t mean genetics can’t play a significant role in a person. Indeed, some people are <a href="https://blog.23andme.com/articles/tasty-genetics"> &#8220;supertasters&#8221;</a> or may have specific genetic variations that cause them to detect or not detect certain smells and flavors. One thing’s for sure—if you hate cilantro, you really hate cilantro!



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



If you aren&#8217;t already a 23andMe customer, check out your <a href="https://you.23andme.com/reports/trait.cilantro_taste/">Cilantro Taste Aversion trait report here.</a> Not yet a customer? Find out <a href="https://www.23andme.com/compare-dna-tests/?sub=ver2&amp;cabt=nao">all that 23andMe offers here</a>.

Cilantro Taste Gene – Everything You Should Know

Editor&#8217;s note: This post has been edited slightly since it first appeared in 2020.



A <a href="https://www.nature.com/articles/s41562-020-00956-y">new study</a> that uncovered dozens of genetic associations for why some people are left-handed or ambidextrous offers potential new insight into the human brain&#8217;s structure and function. 



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="724" height="483" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-1251025203.jpg" alt="" class="wp-image-30112" style="width:362px;height:242px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-1251025203.jpg 724w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-1251025203-300x200.jpg 300w" sizes="auto, (max-width: 724px) 100vw, 724px" /></figure>



In the largest study of its kind, researchers in Australia uncovered almost 50 genetic variants associated with being left-handed or ambidextrous. 



Using data from 1.7 million individuals, including more than 1.1 million 23andMe customers who consented to participate in research, scientists at the University of Queensland&#8217;s <a href="https://www.qimrberghofer.edu.au/">QIMR Berghofer Medical Research Institute</a>, found that many different genetic variants — each with a small effect — influence a person&#8217;s &#8220;handedness.&#8221;&nbsp; But the study also showed that while genetics plays an important role, environmental influences have a more significant impact on which hand a person favors. 



<h2 class="wp-block-heading" id="h-right-and-left-brain">Right and Left Brain</h2>



 Studying what researchers call &#8220;handedness&#8221; is significant because it offers insight into the brain&#8217;s lateralization. Lateralization refers to the tendency for different cognitive and neural functions — language, for instance — to be located on one side of the brain and not the other. In this study, the <a href="https://www.23andme.com/genetic-science/" target="_blank" rel="noopener">genetic associations</a> with left-handedness may also point to influences on the development of brain tissue that is important for generating new neurons and other functions that regulate brain development. 



&#8220;Although there is an enduring fascination with why some people are left or right-handed or both, understanding why some people are left-handed and others right-handed is also an important research question because handedness can influence brain structure and the way different functions are located within the brain,&#8221; said <a href="https://www.qimrberghofer.edu.au/people/sarah-medland/">Professor Sarah Medland</a>, co-senior author of the paper and head of QIMR Berghofer&#8217;s Psychiatric Genetics Group. 



The researchers also found genetic correlations with being left-handed and schizophrenia and having bipolar disorder. This raises questions about whether this is related to the influence on brain structure and function found in this research. 



<h2 class="wp-block-heading" id="h-large-study-size">Large Study Size</h2>



 For this study, the researchers combined data from many different research cohorts.&nbsp; The study included data not only from 23andMe customers, but also data from the UK Biobank, and 32 other researcher institutions from around the globe. 



All together it included data from about 1.5 million people who are right-handers, about 194,000 who are left-handers, and 37,000 who are ambidextrous. The study identified 41 genetic variants associated with being left-handed and seven associated with being ambidextrous. There is very little genetic correlation between being left-handed and being ambidextrous, according to the researchers. 



The study appears in the journal <a href="https://www.nature.com/articles/s41562-020-00956-y" target="_blank" rel="noopener noreferrer">Nature Human Behaviour</a>.

The Genetics of Being Left-Handed or Right-Handed

This August’s record-setting heat waves serve as a reminder to pay special attention to sun and heat exposure.
Many of us already understand that sun exposure can increase one’s risk for certain types of <a href="https://blog.23andme.com/health-traits/new-23andme-report-on-skin-cancer/">skin cancer</a> like melanoma and basal and squamous cell carcinomas. But beyond skin cancer, increased UV radiation and heat can also exacerbate several other health conditions. Learning more about some of these conditions and your genetic likelihood of developing them can help you better protect yourself this summer.
<h6>A Resurgence of Rosacea</h6>
Rosacea is a chronic skin condition that often causes redness, flushing, or visible blood vessels around the nose and cheeks. Symptoms come and go in response to environmental triggers.
<a href="https://www.aad.org/public/diseases/rosacea/triggers/prevent#:~:text=Think%20sun%20protection,30%20or%20higher%20every%20day.">Sun exposure</a> is a common cause of rosacea flare-ups, particularly in the summer. However, basic protection measures – like avoiding midday sun, wearing a hat, and applying a gentle, mineral-based sunscreen – can help lessen symptoms.  
It also helps to be aware of your genetics. Rosacea is likely due to a<a href="https://blog.23andme.com/health-traits/new-report-rosacea/"> confluence of factors</a>, including genetics and inflammation caused by an overactive immune system.
23andMe researchers, in collaboration with academic and industry partners, identified <a href="https://blog.23andme.com/23andme-research/the-genetics-of-rosacea/">two genetic variants</a> associated with rosacea among people of European descent and unearthed <a href="https://blog.23andme.com/23andme-research/new-genetic-associations-for-rosacea-found/">seven gene regions</a> related to rosacea symptom severity.
Current research aims to better understand the condition and identify therapies that can help treat symptoms.
<h6>Weathering Lupus Flare-Ups</h6>
The summer sun can also spell trouble for people with lupus. This chronic autoimmune condition occurs when the body’s immune system attacks its own tissues and organs. The resulting inflammation can affect joints, skin, and various organs. 
Many people with lupus experience photosensitivity and flare-ups after UV exposure. A <a href="https://blog.23andme.com/23andme-research/new-insights-from-lupus-research/">four-year study</a> by 23andMe and Pfizer of 6,000 individuals with lupus found that 67 percent of participants reported skin reactions after sun exposure. 
Dermatologists <a href="https://www.lupus.org/resources/uv-exposure-what-you-need-to-know">recommend</a> a suite of lifestyle modifications that include wearing sunscreen, shading or tinting the windows of your car, and even choosing lightbulbs with lower irradiance.
<h6>Staying Safe this Summer</h6>
Too much UV exposure and too much heat can leave their mark, but with a little knowledge and preparation, you can maximize the last few weeks of the season.

Here Comes the Sun!

Ah, summer vacation. A chance to set your status to “out of office,” grab that book you’ve been meaning to finish, and set off on a new adventure.
But how – and where – should you spend your precious days off? To help you finalize your summer travel plans, we’ve compiled a list of destinations influenced by your DNA and backed by 23andMe research.
Whether you’re an outdoor enthusiast with a fear of heights or a beach lover who’s genetically predisposed to get a lot of mosquito bites, we have a destination that may pair well with your genes.

<h6> Summer Sans Bite</h6>
Summer marks the return of many simple pleasures – barbecues, beach trips, long days, warm nights, and time outside. But it also marks the return of a buzzing menace: the mosquito.
If you seem to have more itchy red welts on your ankles than the people around you, your DNA may play a role. 23andMe researchers found<a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/"> 285 genetic variants</a> associated with mosquito bite frequency, size, and itchiness. These markers and other non-genetic factors such as birth sex may explain why mosquitoes find some people so attractive.
For the mosquito magnets among us, we recommend heading north to an urban location with cooler temperatures like Seattle, Washington. Seattle’s<a href="https://www.kuow.org/stories/why-are-there-so-few-mosquitos-seattle"> temperate climate</a> helps keep mosquito populations <a href="https://www.cdc.gov/zika/pdfs/Zika-mosquito-maps.pdf">in check</a> because there is less heat, humidity, and standing water that they need to survive and reproduce. With its lively art and food scene and proximity to Puget Sound and the Olympic Mountains, Seattle is buzzing in all the right ways.

<h6>Finding Balance</h6>
For those who suffer from<a href="https://www.23andme.com/topics/traits/motion-sickness/"> motion sickness</a>, the mere thought of a summer road trip may trigger a desire to stock up on motion sickness relief medicine.
Motion sickness may happen when there’s sensory conflict, or a mismatch between what your body feels is happening and what your eyes see. And genetics factor in, too. 23andMe researchers pinpointed<a href="https://blog.23andme.com/health-traits/feeling-woozy-over-23andmes-new-report-on-motion-sickness/"> 413 genetic variants</a> that influence susceptibility to motion sickness. They also saw an<a href="https://academic.oup.com/hmg/article/24/9/2700/2385879?login=false"> association</a> between motion sickness and other conditions like migraines, morning sickness, and vertigo, which confirmed similar observations from previous researchers.
So this summer, ditch the car, skip the open road, and head to one of America’s most<a href="https://www.walkscore.com/NY/New_York"> walkable</a> metropolises: New York City. It’s a pedestrian’s paradise – museum exhibitions, Broadway shows, restaurants, lively neighborhoods, and shopping that can be easily reached on foot. No medication required.

<h6>Don’t Look Down</h6>
Does a precipice cause your heart to race? Does a mountain vista make your knees tremble?
A fear of heights is very common, affecting as many as <a href="https://link.springer.com/article/10.1007/s00415-012-6685-1">one in three</a> people.
The distress may stem from a disruption in optical input and spatial orientation. While standing upright, the brain uses visual cues from surrounding objects to maintain balance. But this process can become muddled when standing at a high elevation relative to your surroundings.
There’s also a<a href="https://www.23andme.com/topics/traits/fear-of-heights/"> genetic component</a> at play. Scientists at 23andMe used statistical models and data from consented research participants to identify <a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/">392 genetic markers</a> associated with a fear of heights.
<a href="https://www.nps.gov/bisc/index.htm">Biscayne National Park</a> offers an alternative to the high elevations and heart-stopping views that we usually associate with the National Park system. Biscayne is located off the southeast coast of Florida, the country’s flattest state, and features four different ecosystems that hover close to sea level. The park offers plenty of water activities and several<a href="https://www.alltrails.com/trail/us/florida/elliott-key-interpretive-loop"> low-elevation trails</a> that provide an awe-inspiring view of mangrove trees, sand bars, and turquoise water without that woozy, faint feeling.
Pack your bags; your DNA-tailored adventure awaits!

Where You Should Travel This Summer, Based on Your Genetics

Many of us are almost as afraid of standing up and talking in front of a room full of people as getting<a href="https://www.chapman.edu/wilkinson/research-centers/babbie-center/_files/americas-top-fears-2019.pdf"> attacked by a shark</a> or murdered by a stranger.
While the odds are slim to none, the angst around public speaking is very real. About a quarter of Americans report having a fear of public speaking. If you assumed that simply doing all your talking remotely via Zoom would remove the fear, the last year would tell you otherwise. For some, the intimacy of Zoom actually makes the whole experience that much more<a href="https://theconversation.com/anxious-about-speaking-in-online-classes-and-meetings-here-are-7-tips-to-make-it-easier-144121"> unnerving</a>.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2-300x252.jpg" alt="" class="alignright size-medium wp-image-27146" width="300" height="252" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2-300x252.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2.jpg 540w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Glossophobia
Genetics plays a small part in a person’s fear of public speaking, also known as<a href="https://www.psycom.net/glossophobia-fear-of-public-speaking"> glossophobia.</a> There isn’t a similarly long Greek-derived word to cover “fear of video chat,” but they both boil down to the same type of anxiety, and they both include symptoms like sweating, rapid heartbeat, and nausea.
23andMe reports on a person’s likelihood of having a fear of public speaking. Using a statistical model and data from more than 870,000 23andMe research participants, our scientists have identified more than 800 genetic markers associated with a fear of public speaking. Using those genetic markers together with non-genetic factors we developed a statistical model to estimate the likelihood of having a fear of public speaking. Among the non-genetic factors, we looked at are such things as age and sex.
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	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="681" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-1024x681.jpg" alt="" class="wp-image-27145" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-1024x681.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-300x199.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-768x511.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-880x585.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking-1180x784.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/fear-of-public-speaking.jpg 1256w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6></h6>
<h6>Mic Check</h6>
The report is among more than 30 interesting Trait reports available to<a href="https://www.23andme.com/dna-health-ancestry"> 23andMe Health + Ancestry Service</a> customers. These reports often spark curiosity and allow customers to explore more about the science and garner fun genetic insights of their own. Most recently we added reports on<a href="https://blog.23andme.com/health-traits/23andme-steps-out-with-two-new-trait-reports/"> Bunions and Flat Feet</a>, and have others on such things as<a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/"> Mosquito Bite Frequency</a> and<a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/"> Fear of Heights</a>.
Fear of public speaking doesn’t present any serious health consequences, it can hamper career advancement or your speech at your best friend’s wedding. It’s linked to our natural fight or flight response. Understanding the biology may offer insights into other anxiety-related conditions. About 43 percent of 23andMe customers participating in research report having a fear of public speaking. Fortunately, there are plenty of ways to<a href="https://www.psycom.net/glossophobia-fear-of-public-speaking#actionsteps"> overcome a fear of public speaking</a>.
Before their next<a href="https://www.toastmasters.org/"> Toastmaster</a> mic check, 23andMe Health + Ancestry customers can check out their  Fear of Public Speaking Report. Just go to your<a href="https://you.23andme.com/health/trait/"> Traits dashboard</a>.
Not yet a customer? Head over<a href="https://www.23andme.com/compare-dna-tests/"> here</a> and learn more.

Fear of Public Speaking

The biggest changes often start with the smallest of steps, and that is particularly true with your health.
With our new Lifestyle Dashboards, 23andMe wants to help you along that path to wellness. Nudging you to eat a little better each day, or to take a few more steps outside, or reminding you of the importance of a good night&#8217;s sleep. Making these small incremental changes can add up to big improvements to your overall health.
We want to help you but, like with any journey, before you take that first step it helps both to know not just where you are but where you want to go. To do that, customers can connect their mobile devices — like an iPhone or Apple Watch with the <a href="https://www.apple.com/ios/health/">Apple Health Kit</a> or <a href="https://www.google.com/fit/">Google Fit</a> — through our app, or answer survey questions that allows 23andMe to assess their daily habits. 
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	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="520" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-1024x520.png" alt="" class="wp-image-28725" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-1024x520.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-300x152.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-768x390.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-880x447.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1-1180x600.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/01/Frame-1.png 1220w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Daily Healthy Habits 
</h6>
Your activity data from your phone and wearable devices, as well as your answers to those questions, allow you to compare how you are doing with other 23andMe customers, who have consented to participate in research. We’ll be able to show you how many of your daily habits, like your daily steps, your exercise routine, your veggie intake, your red meat consumption, your stress levels, compared to the thousands of individuals in our research community. 
The power of social comparison can open your eyes to things you’re doing well, and need to work on more. We even allow our 23andMe+ members to compare based on age, sex, and region.&nbsp; 
<h6>A Virtuous Circle 
</h6>
In addition, for those who opt into 23andMe&#8217;s research, your responses are aggregated with answers from other participants so that our scientists can study what works and doesn&#8217;t work in improving overall health in a sort of virtual cycle of information.
These dashboards are 23andMe&#8217;s first step into helping customers more easily integrate their day-to-day habits and behaviors into their overall 23andMe health experience. The genetic insights we provide can ground us in what lifestyle habits are especially important.
 23andMe wants to help you track and improve your wellness to work together towards a healthier future for you. If you’re a 23andMe Health + Ancestry Service customer in the United States, take a look at the Lifestyle Dashboards, and let’s take this next step to improve our health together.

23andMe’s New Lifestyle Dashboard

Mom, I’m not the best poet and I know you know it, but here’s my rhyme, I’ll try not to blow it.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/04/We-Love-Mom-Genes-300x193.png" alt="" class="alignright size-medium wp-image-27052" width="300" height="193" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/04/We-Love-Mom-Genes-300x193.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/04/We-Love-Mom-Genes.png 434w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
I am grateful for the traits you gave me — my eyes, curly hair, and even <a href="https://blog.23andme.com/health-traits/too-many-teardrops/">crying easily</a>.
&nbsp;
I appreciate all the many little things — a preference to listen, but not the allergy to azithromycin.
&nbsp;
You always have been so <a href="https://blog.23andme.com/23andme-research/new-study-finds-genetic-associations-for-neuroticism/">conscientious</a>, a paragon of caring and unpretentiousness.
&nbsp;
Then there’s your uncanny ability, to <a href="https://blog.23andme.com/23andme-research/23andme-scientists-to-present-new-findings/">match a musical pitch </a>with such agility.
&nbsp;
Maybe I should have kept this simple, and only thanked you for my dimple.
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But all this is to say, I love you and wish you a Happy Mother’s Day.
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<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External.png" alt="" class="aligncenter wp-image-27072 size-full" width="875" height="3095" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External.png 875w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External-85x300.png 85w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External-768x2717.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External-249x880.png 249w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/05/Mothers-Day-Infographic-and-Blog-Final-kc_BLOG-External-334x1180.png 334w" sizes="auto, (max-width: 875px) 100vw, 875px" />

An Ode To Mom Genes

An international team of researchers has found shared genetic underpinnings for alcoholism and several psychiatric disorders including depression, ADHD and schizophrenia.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Empty-Bottles-300x225.jpg" alt="" class="alignright size-medium wp-image-26708" width="300" height="225" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-1024x768.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-1180x885.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles.jpg 1182w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It is the largest genome-wide association study ever done on individuals with diagnosed alcohol dependency. The study led by researchers at Harvard Medical School, Yale, Indiana University, and Washington University, also bolsters <a href="https://blog.23andme.com/23andme-research/the-genetics-of-alcoholism/">other research</a> that has shown shared genetic influences between substance abuse and certain psychiatric disorders. 
“The current estimate is that one in eight Americans suffers from alcohol dependence,” said <a href="https://medicine.wustl.edu/news/alcohol-dependence-psychiatric-disorders-share-genetic-links/">senior author Arpana Agrawal</a>, PhD, a professor of psychiatry at Washington University School of Medicine in St. Louis. “And the gene we identified has a protective effect, but by no means is it the only thing affecting risk of alcohol dependence. We know environmental factors also play a role. We also think the genetic susceptibility to alcohol dependence stems from the small, cumulative effects of a very large number of variants across the genome.”
Along with the genome-wide association study — that included data from more than 50,000 people — this study, using data from <a href="https://research.23andme.com/research/">23andMe</a>, also looked at the genetic correlation between alcohol dependence and 42 different traits. Those traits were as varied as nicotine addiction, major depressive disorder, BMI, and educational attainment to name a few.
But this new study, published in the journal <a href="https://www.nature.com/articles/s41593-018-0275-1">Nature Neuroscience</a>, is unique in that the researchers included data from individuals who were diagnosed for alcohol dependency, and the study included individuals with non-European ancestry. The researchers noted that many genes influence alcohol dependence, but genes that affect how individuals metabolize alcohol play an outsized role. Researchers found that different genetic variants were more important for people with African American ancestry versus those of European descent.
Together the findings offer more insight into the causes of alcohol dependence, a major public health issue. Worldwide alcohol abuse accounts for about 5 percent of the global disease burden, and it is tied to one in 20 deaths, according to the World Health Organization.
This study also follows on the heels of a series of studies that have explicitly looked at alcohol use, including both casual consumption and much heavier alcohol use. Both studies found distinct genetic differences between occasional consumption and alcohol abuse. For example, researchers in both studies found that there was a negative correlation between the heavy drinking associated with alcoholism and educational attainment — the number of years of formal education. But there is a positive correlation between educational attainment and more casual or social drinking.
This study, and others, suggest that social drinking is not associated with depression, but problem drinking and alcoholism are. The study also found correlations with smoking, marijuana use, and measures for lower impulse control and higher tolerance for risk taking.
The work in linking these kinds of behavioral traits and psychiatric disorders has been made possible, in large part, because researchers have been able to leverage the massive amounts of de-identified aggregate data from 23andMe, the UK Biobank and several smaller research cohorts. This study also benefited from using data from individuals who were diagnosed with alcohol dependence, but an even larger study could yield more results, the researchers said.
&nbsp;

New Research Shows Shared Genetic Link Between Alcohol Dependence and Psychiatric Disorders

23andMe released a new batch of <a href="https://www.23andme.com/topics/traits/">trait reports</a> that  look at whether your DNA indicates you might be tastier to mosquitoes than others, or why you can sing back a musical note or get the heebie-jeebies looking down from great heights, or even why your hair lightens in the sun.
Let&#8217;s take a closer look at each report:
<h6>Mosquito Bite Frequency </h6>
<a href="https://blog.23andme.com/23andme-research/mosquito-bites/"> A study</a> that 23andMe collaborated on with researchers at Pfizer Inc last year, showed that genetics plays a role in both the amount of swelling from a bite and how often a person gets bit. That study found 15 genetic variants — almost all on or near genes associated with the immune response — associated with both the intensity of the reaction to the bite and the frequency of bites.
23andMe’s new Mosquito Bite Frequency trait report goes far beyond those initial findings and uses more than 280 genetic variants associated with mosquito attractiveness to calculate its estimate. It turns out that female mosquitoes — it’s only the female mosquito that drinks our blood — have a good nose for prey.
Their complex olfactory system leads them to prefer some people’s scent to others. Indeed, data from 23andMe customers who consented to participate in research indicate that more than a third, 37.5 percent, report being bitten more often than others. A little more than a quarter, 27.5 percent, said they were bitten less frequently.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26391 size-large" title="Mosquite Bite Frequency" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/Mosquitobite.jpg-1002x1024.png" alt="" width="1002" height="1024" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Mosquitobite.jpg-1002x1024.png 1002w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Mosquitobite.jpg-294x300.png 294w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Mosquitobite.jpg-768x785.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Mosquitobite.jpg-861x880.png 861w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Mosquitobite.jpg-1155x1180.png 1155w" sizes="auto, (max-width: 1002px) 100vw, 1002px" />
<h6>Hair Photobleaching </h6>
Beyond getting a few bug bites another rite of summer is getting a little sun, and for some that can also mean a slight change in the color of their hair. But getting a beach blonde hairdo is a bit more complicated than you’d imagine with dozens of genetic variants influencing whether the sun will lighten your hair. 23andMe scientists identified 48 different genetic variants that affect this trait among people of European ancestry. The genetics around <a href="https://www.23andme.com/topics/traits/hair-photobleaching">hair photobleaching</a> should not be confused with the<a href="https://blog.23andme.com/23andme-research/untangling-the-genetics-of-hair-color/"> hundreds of genes associated with hair color</a>. According to data that 23andMe used to create this trait report, a little more than 72 percent of customers who consented to participate in research and have European ancestry reported that the sun lightens their hair.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26390 size-large" title="Hair Photobleaching" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/Photobleaching.jpg-837x1024.png" alt="" width="837" height="1024" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Photobleaching.jpg-837x1024.png 837w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Photobleaching.jpg-245x300.png 245w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Photobleaching.jpg-768x940.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Photobleaching.jpg-719x880.png 719w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Photobleaching.jpg-964x1180.png 964w" sizes="auto, (max-width: 837px) 100vw, 837px" />
<h6>Fear of Heights</h6>
It turns out that certain fears, including acrophobia, which is the fear of heights, have a genetic component. 23andMe reports on whether your genetics makes you more or less likely than the average person to be afraid of heights. While a phobia can be learned, there are also fears that are influenced by genetics. Fear of heights is relatively common, affecting as many as<a href="https://link.springer.com/article/10.1007/s00415-012-6685-1"> one in three people</a>, according to one study.
This is consistent with what scientists at 23andMe found among customers who consented to participate in research, with about 37 percent saying they were afraid of heights. The feelings one has may be based on the visual stimulus one experiences when standing near the edge of a significant drop-off, where the nearby objects one uses as optical input to maintain balance is absent. Scientists believe that acrophobia might be stronger in those who depend heavily on visual information for balance, which also has a genetic component.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-26389 size-large" title="Fear of Heights" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/FearOheights.jpg-1024x1001.png" alt="" width="1024" height="1001" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/FearOheights.jpg-1024x1001.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/FearOheights.jpg-300x293.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/FearOheights.jpg-768x751.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/FearOheights.jpg-880x860.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/FearOheights.jpg-1180x1153.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Ability to match music note </h6>
More than just being able to sing, the ability to match a musical note is something that some people are just<a href="http://www.abc.net.au/news/science/2018-04-11/how-much-of-our-ability-to-sing-in-tune-is-inherited/9636506"> born with</a>. 23andMe now reports on whether your genetics makes it more or less likely that you’ll match a <a href="https://www.23andme.com/topics/traits/musical-pitch/">musical pitch</a>. Although it might seem simple for those with this instinctive ability, there is actually a lot going on. Reproducing a note requires the ability first to hear the pitch, and then the brain identifies the muscles needed to produce the sound. About half of 23andMe customers who consented to participate in research say they can sing back any note, and our researchers have identified no fewer than 500 genetic variants associated with the ability to match musical pitch.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26388 size-large" title="Match Musical Pitch" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/MusicalPitch.jpg-876x1024.png" alt="" width="876" height="1024" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/MusicalPitch.jpg-876x1024.png 876w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/MusicalPitch.jpg-257x300.png 257w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/MusicalPitch.jpg-768x898.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/MusicalPitch.jpg-753x880.png 753w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/MusicalPitch.jpg-1009x1180.png 1009w" sizes="auto, (max-width: 876px) 100vw, 876px" />
<h6>Genetic Traits</h6>
Together, these trait reports show that traits like these — as well as the more than two-dozen others that we offer to health + ancestry customers — are influenced by your genetics. The reports can help give you a bit more insight into the fascinating world of genetics, and how the interplay between your DNA and your environment can ultimately influence who you are.
We encourage you to <a href="https://www.23andme.com/topics/traits/">check them out</a>.

Itching to See 23andMe’s New Trait Reports

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-8468" title="Flour wheat celiac" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/iStock_000014686955XSmall-300x199.jpg" alt="" height="199" width="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/02/iStock_000014686955XSmall-300x199.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/02/iStock_000014686955XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />

Editor&#8217;s note: This post has been altered to reflect 23andMe&#8217;s new product offering.


By Amick B.

Like other autoimmune diseases, <a href="http://www.23andme.com/topics/health-predispositions/celiac-disease/">celiac disease</a> has a strong genetic component, but new research shows that environmental factors, including an exposure to a variety of microbes in our water and in dust, may also play an important role.
A recent<a href="https://www.nytimes.com/2013/02/24/opinion/sunday/what-really-causes-celiac-disease.html?pagewanted=all&#038;_r=0"> New York Times article</a> reported that the amount of bacteria in the gut affects whether the immune system treats glut
en as food or as a deadly invader.  Research also showed that breast-feeding, which increases this important group of intestinal bacteria — called bifidobacteria — may protect against the disease.
This finding is related to other<a href="https://blog.23andme.com/news/is-autoimmunity-a-result-of-genetic-adaptation-to-pathogens/"> recent research that suggests</a> versions of SNPs associated with increased risk for autoimmune diseases may come from immune defenses originally evolved to protect people from infectious organisms.  This means that the very same genetic adaptations that protected our ancestors from harmful pathogens may now have undesirable consequences in our “cleaner” modern societies where those pathogens are no longer common. 
For people with celiac disease, the simple act of eating food with gluten – a protein found in wheat and other grains – triggers an immune response that mistakenly attacks their digestive system. The disease strikes people who inherit certain versions of a protein called HLA-DQ, one of the proteins the immune system cells use to mark foreign proteins for attack.
The versions of HLA-DQ that are associated with celiac disease bind to gluten as if it were a threat; this mistaken immune response damages the villi lining the small intestine, undermining the absorption of nutrients and ultimately causing symptoms ranging from stomach aches and diarrhea to iron deficiency.
While 30-to-40 percent of all people have the versions of HLA-DQ that increase the risk for celiac disease, only about one percent of the U.S. population, or about two million people, actually gets the disease. While genetic proclivity makes us susceptible, some kind of other immunological trigger is required to kick the disease into gear.
Along with certain genetic markers, the risk factors for celiac include having European ancestry, a family history of celiac disease and a personal history of other autoimmune disorders.


Celiac disease should not be confused with other problems related to gluten, namely wheat allergies and gluten intolerance. Wheat allergies trigger responses that range from hives to sneezing and wheezing. Unlike celiac disease, gluten intolerance triggers a response that comes from innate immunity — the body using its normal immune response to repel gluten as if it were an invader — causing a direct response in the form of inflammation inside and outside of the digestive tract.


Celiac disease comes from adaptive immunity, a more sophisticated system in which genes activate specific cells to fight foreign bodies. With celiac disease, one’s own tissue lining of the small intestine is attacked as a result of this adaptive immunity. The only treatment for celiac disease is adherence to a completely gluten-free diet. Luckily this completely alleviates symptoms for most people with the disease and allows the damage to their intestines to heal.
Unfortunately, we don’t have much control over the microbes in our environment, but we can at least educate ourselves to recognize the symptoms of Celiac Disease if and when they appear.
Amick Boone is a freelance writer who&#8217;s written about health and life sciences for nearly 10 years.  When she&#8217;s not at her computer, she&#8217;s usually in motion &#8211; doing yoga, riding her bike or traveling.

Genetics, Microbes and Celiac Disease

<img loading="lazy" decoding="async" class="wp-image-9055 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />By Bertram K. 
Two days after his death in May, Zach Sobiech’s song “<a href="https://www.youtube.com/watch?v=sDC97j6lfyc">Clouds</a>” became the number one download on iTunes and now has surpassed seven million views on YouTube.
In it, Zach sings about his fight with cancer and bids farewell to family and friends. While I feel heavy-hearted listening to “Clouds,” Zach radiates a love and happiness that is particularly notable given his diagnosis of terminal cancer. At the age of 14, Zach was diagnosed with osteosarcoma, the <a href="https://www.ncbi.nlm.nih.gov/pubmed/19197972">most common</a> malignant bone cancer affecting children and teenagers. The popularity of “Clouds” has helped bring awareness to Zach’s <a href="http://www.childrenscancer.org/zach/">Osteosarcoma Fund</a> at Children&#8217;s Cancer Research Fund, which supports research at the University of Minnesota Cancer Center.
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This organization partially funds the work of Logan Spector, an associate professor at the University of Minnesota and an expert in osteosarcoma research. Logan Spector, along with Sharon Savage and Stephen Chanock from the National Cancer Institute and nearly 50 other colleagues from around the world, recently published a study in <a href="https://www.nature.com/ng/journal/v45/n7/full/ng.2645.html">Nature Genetics</a> looking at the association between genes and osteosarcomas.
By comparing 910 patients of European descent with osteosarcoma and 3,200 healthy people, the researchers identified a number of markers associated with osteosarcoma. The marker with the strongest association (rs1906953) is found in the GRM4 gene, which influences critical signalling within cells. Indeed, the researchers found that each copy of the T version of this marker is associated with 1.6 times higher odds of developing osteosarcoma.
This isn’t the first observed connection between signalling genes and osteosarcoma. A <a href="https://www.ncbi.nlm.nih.gov/pubmed/20697156">previous study</a> showed that mutations in another signalling gene led to osteosarcoma in mice.
Research exploring the connection between genes and cancer is important.  While this study was a valuable first step towards understanding osteosarcoma genetics, there is still much to discover. Members of the <a href="https://www.23andme.com/sarcoma/">23andMe Sarcoma Community</a> have therefore come together to help uncover genetic associations for various forms of cancer, such as osteosarcoma and <a href="https://blog.23andme.com/articles/ewing-sarcoma">Ewing Sarcoma</a>.
Hopefully, such genetic research will eventually lead to more targeted and personalized cancer therapies. Some may say that we have our heads in the &#8220;clouds.&#8221; And it may be many years before genetic research findings are translated into a &#8220;little bit more time&#8221; for people like Zach Sobiech.  Nevertheless, we choose to take a lesson from Zach, and will continue to look &#8220;up, up, up.&#8221;  As this brave young man said, &#8220;we&#8217;ll go up in the clouds because the view is a little nicer.&#8221;
Bertram is a biomedical engineer by training with a long-held interest in making science accessible to all. As a health scientist at 23andMe, he enjoys writing about notable genetic breakthroughs. You will also find Bertram climbing mountains worldwide, summer and winter.

A Song Draws Focus on Osteosarcoma Research

<img loading="lazy" decoding="async" class="aligncenter wp-image-9055 size-full" title="sarcoma image" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Late last year researchers with support from the<a href="http://www.chordomafoundation.org/latest-updates/breaking-news-genetic-risk-factor-for-chordoma-identified/"> Chordoma Foundation</a> identified a genetic marker associated with that rare form of bone cancer.
The Chordoma Foundation has also partnered with 23andMe to raise awareness about our <a href="https://www.23andme.com/sarcoma/">Sarcoma Research Initiative</a> aimed at better understanding genetic associations with this disease.
The<a href="https://www.nature.com/ng/journal/v44/n11/full/ng.2419.html"> original study</a> led by scientists at University College London showed that a marker called rs2305089 is linked to higher risk for chordoma. Researchers at 23andMe were able to quickly replicate the finding.
The original study included 40 individuals with chordoma and another 358 people without the disease. In its replication study, 23andMe was able to quickly gather data from 22 people with chordoma and 220 without it. The data from the two studies together suggest that the T version of rs2305089 is associated with between two and six times higher odds of chordoma.
More than 50 percent of people with European ancestry have at least one T at rs2305089. At the same time, fewer than one in 1,000,000 people develop chordoma in the general population. This means that although this genetic variant increases a person’s odds of chordoma, very few with the variant will actually develop it.
The discovery offers important insight for scientists studying this rare cancer, which affects mostly people of European ancestry. It is also another example of how 23andMe’s unique research platform can contribute to research on rare disease.
Ed: (April 16, 2013) This post was updated to include information about the incidence of chordoma.

Genetics and a rare bone cancer

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<img loading="lazy" decoding="async" class="aligncenter wp-image-8518 size-full" title="RDD_white" src="http://35.88.189.111/wp-content/uploads/2011/02/RDD_white_lg.jpg" alt="Rare Disease Day logo" width="600" height="573" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/02/RDD_white_lg.jpg 600w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/02/RDD_white_lg-300x287.jpg 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
February 28 is Rare Disease Day – a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized around the world. Around 6,800 rare diseases have been identified and up to 80% of them have a genetic origin. 23andMe provides genetic health reports for many of these conditions and also carries out research on a few of them. 
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When it comes to rare diseases, rare is not actually that rare.
Take that one person with <a href="https://www.23andme.com/health/Cystic-Fibrosis/">cystic fibrosis</a>, the other person with sarcoma, and then someone with <a href="https://www.23andme.com/health/Sickle-Cell-Anemia-Malaria-Resistance/">sickle cell anemia</a>. All of these conditions are considered rare, but when you add up all the people with a rare disease you land at “one in ten.” This means that roughly <a href="http://www.rarediseases.org/">30 million Americans</a> suffer from a rare disease.
Definitions can vary, but in the United States the “rare” label is applied to any condition that affects <a href="http://rarediseaseday.us/about/">fewer than 200,000 individuals</a>, or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose, and can be life-threatening.
Most rare diseases can’t be cured and many lack effective treatments because research is often hampered by a scarcity of study participants and poor funding. 23andMe hopes to change this.
Our <a href="https://www.23andme.com/mpn/">Myeloproliferative Neoplasms</a> and <a href="https://www.23andme.com/sarcoma/">Sarcoma</a> research initiatives are aimed at understanding what causes these conditions, information that may one day help bring about a cure.
Beyond these initiatives we also research rare diseases through the typical customer experience. Individuals come to 23andMe, receive their genetic results, and if they desire, contribute to research by providing information about themselves. Our scientists aggregate this information and draw interesting correlations.
A first-glance finding is that roughly nine percent of 23andMe customers have a rare disease, right on par with the national average of ten percent. Slightly more 23andMe individuals with a rare disease are women.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-17662" title="rare disease" src="https://blog-api.23andme.com/wp-content/uploads/2013/02/rare-disease.png" alt="" width="950" height="306" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/02/rare-disease.png 950w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/02/rare-disease-300x97.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/02/rare-disease-768x247.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/02/rare-disease-880x283.png 880w" sizes="auto, (max-width: 950px) 100vw, 950px" />

One in Ten Lives with a Rare Disease

<img loading="lazy" decoding="async" class="alignright wp-image-6395 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large-300x248.jpg" alt="" width="300" height="248" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/04/sarcoma-large-300x248.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/04/sarcoma-large.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Each person who has joined 23andMe’s<a href="https://www.23andme.com/sarcoma/"> Sarcoma research community</a> has their own reasons for participating, but they all share the same hopes that we have – to find the causes for sarcoma and new treatments for this rare cancer.
Earlier this month, 23andMe took an important step in that direction when we topped our goal of enrolling 1,000 people in our Sarcoma research community. We’re ecstatic that this group is not only one of the world’s largest cohorts of people with the disease, it is also at a size that lends power to the research.
It wouldn’t have been possible without people like Tracy Ceperley of British Columbia.
“My hopes are to find the (the genetic mutations) responsible for sarcoma,” said Tracy. “And maybe find a cure for the cancer before it happens (to others) or at least help fight this rare and harsh cancer.”
Sarcomas are an uncommon and complex group of cancers affecting the bone, cartilage, muscle and other soft connective tissue in the body.  About 14,000 people a year in the United States are diagnosed with sarcomas, but they amount to a very small fraction of the 1.4 million cancers diagnosed in the US each year. Individually sarcomas are very different from one another. All this combines to complicate research and drug development for the disease.
That’s where our Sarcoma research community comes in. In two years we’ve created a research cohort that gives sarcoma patients an opportunity to participate in a study from anywhere in the world with web access. It’s as easy as spitting in a tube, mailing it in, and answering questions online, all from the comfort of home. We aim to leverage our online tools and novel research platform to make breakthroughs in genetic research for this rare disease.
“We hope that this project yields new data, coupled with information from similar efforts elsewhere, that can be used for the benefit of people who need treatment for these rare cancers,” said Dr. Robert Maki, a sarcoma medical oncologist and one of the unpaid advisors on our independent Sarcoma Scientific Advisory Committee.
Along with Dr. Maki, we are fortunate that our advisory committee also includes George Demetri, MD, Judy Garber, MD, MPH, and Mark Robson, MD, who have all expressed similar hopes for the research.
“In research in general the quality of the community is important,” <a href="../inside-23andme/talking-about-sarcoma-with-george-demetri/">Dr. Demetri told us recently</a>. “The engagement of the community is important. It’s not just the number. But it is incredibly helpful to be able to have dialogue back and forth between the patients, doctors and researchers. Patients also want to be able to reach out to other patients. . . Having patients participate as part of the research will teach us a lot. It’s to the patients advantage to help us hone the data we’re collecting and to have the patients voice in there.” 
We expect the next few years to be important in helping oncologists determine genetic and non-genetic risk factors that predispose people to developing sarcomas. As that research goes on our community members can explore other aspects of their DNA using 23andMe’s tools for ancestry, health and traits.
This is an engaged and active community; something researchers will tell you is vital to success. Many members participate in our discussion groups and over 80 percent have completed important surveys. Researchers and patients both benefit from more open communication, not just because it offers an opportunity to share important medical information, but because it puts a human face on both sides of the research.
Last summer, we had a chance to<a href="https://www.23andme.com/sarcoma/videos/"> meet directly</a> with some of members of our Sarcoma community. For our scientists those exchanges helped bring home the importance of their work. We’re hopeful for results, but in the meantime, as community member Tracy Ceperley says to others diagnosed with sarcoma: 
“Stay strong and courageous, each day is a gift.”

A Milestone in Sarcoma Research

The American Society of Clinical Oncology recently wrapped up its annual meeting, bringing together health care professionals focused on the fight against cancer.
The five days were packed with mind-expanding science and encouraging updates on new efforts for research collaboration between doctors, scientists, advocates, and, most importantly, patients themselves.
<img loading="lazy" decoding="async" class="aligncenter wp-image-13533 size-full" title="ASCO-2012-23andme-FINAL-poster-2012" src="http://35.88.189.111/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012.jpg" alt="" width="1651" height="1275" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012.jpg 1651w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012-300x232.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012-768x593.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012-1024x791.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012-880x680.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012-1180x911.jpg 1180w" sizes="auto, (max-width: 1651px) 100vw, 1651px" />
<h6>Sarcoma Research</h6>
23andMe’s Dr. Kim Barnholt, the project manager for both our<a href="https://www.23andme.com/sarcoma/"> Sarcoma</a> and<a href="https://www.23andme.com/mpn/"> Myeloproliferative Neoplasms</a> (MPN) research communities, got to present some of the highlights of<a href="https://blog-api.23andme.com/wp-content/uploads/2012/06/ASCO-2012-23andme-FINAL-poster-2012.pdf"> 23andMe’s work on sarcoma</a>, which is all about collaboration.
But the conference also allowed members of our MPN and Sarcoma Advisory Panels to talk about some of their latest work, bringing home how lucky we are to have them working with us. They all have impeccable standing in the community of oncologists and cancer researchers.
<h6>Online Communities</h6>
One of the highlights of the whole conference was Dr. Demetri’s talk on the “Dynamics of Partnerships between Professionals and Patient Online Communities to Accelerate Clinical Research and Improve Care.” For 23andMe, the theme is at the heart of what we call our “research revolution.”
Dr. Demetri, who is a charismatic forward thinker, talked about how “interactive social networking models offer great potential to increase meaningful partnerships between patients, caregivers, family and friends, and health care professionals.”
Dr. Demetri used 23andMe’s Sarcoma Research Initiative as an important example of crowdsourcing that integrates the patient’s experience and voice into research and clinical care.
<h6>Patient Centered</h6>
This also got to another theme of the conference that marks a change from the old approach to medicine involving a one-way line of communication from doctor down to patient. Clearly this approach is no longer acceptable, and the conference highlighted how online tools and social media have helped to change that dynamic as well as offer new opportunities for collaboration.
“This type of research could not be done in traditional ways,” Dr. Demetri said.
<img loading="lazy" decoding="async" class="aligncenter wp-image-9055 size-full" title="sarcoma image" src="http://35.88.189.111/wp-content/uploads/2011/05/sarcoma-image1.jpg" alt="" width="315" height="257" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1.jpg 315w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/05/sarcoma-image1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Demetri, whose work on our advisory board is unpaid, said the research model pioneered by 23andMe, “can be extrapolated to (the study of) other common diseases as molecular profiling divides all cancers into subsets of rare diseases.”
We think so too and are encouraged by the progress and promise our research communities can offer.
We look forward to sharing even more of our findings as our research initiatives progress.

Fighting Cancer Together

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-13429" title="ASCO image" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/ASCO-image.jpg" alt="" width="557" height="102" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/ASCO-image.jpg 557w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/ASCO-image-300x55.jpg 300w" sizes="auto, (max-width: 557px) 100vw, 557px" />
Starting today cancer researchers will be gathering in Chicago at the meeting of the<a href="http://www.asco.org/"> American Society of Clinical Oncology</a>.
Researchers and doctors at the annual meeting – the world’s largest oncology conference – will hear about the most promising drugs being developed to fight cancer. They’ll spend five days learning about the new science around a vast array of cancers, and discuss the newest therapies as well as the latest and most innovative clinical trials. They’ll wrestle with broader issues on ethics and hunt out presentations about the most successful cancer prevention.
But this year we hope that a few will also take notice of a new approach to cancer research being pioneered by 23andMe.
Along with our scientific advisors – who include <a href="http://doctors.dana-farber.org/directory/profile.asp?dbase=main&amp;setsize=16&amp;pgt=George+D%2E+Demetri%2C+MD&amp;picture_id=0000273&amp;grouptype_typeid_data=1&amp;gs=c&amp;nxtfmt=r&amp;display=Y&amp;lookup=Y&amp;oldurl=Y&amp;pict_id=0000273">Drs. George Demetri</a>, Robert Maki, Judy Garber, and Mark Robson, – our very own Dr. Kim Barnholt, the Research Project Manager for both our<a href="https://www.23andme.com/sarcoma/"> Sarcoma</a> and<a href="https://www.23andme.com/mpn/"> Myeloproliferative Neoplasms</a> (MPN) research communities, is attending. Kim will be presenting some of the highlights of our 23andMe’s work on sarcoma.
We’ve been able to recruit almost 1,000 people with these cancers that develop in bone and soft tissue, making our sarcoma research cohort one of the world’s largest. Sarcoma, which strikes about 14,000 people each year, is not one kind of cancer, but many different ones.
The complexity of what turns out to be dozens of subtypes of sarcomas makes treating and studying them difficult. But using web-based tools allows for both quick recruitment and efficient large-scale genome-wide studies of the disease. It also gives people with sarcoma, who might be geographically isolated or far away from cancer research centers, or too sick to travel, an easier way to participate in research.
Kim is most encouraged by the engagement of the community with more than 80 percent of participants having completed important surveys. &nbsp;Last summer, she put together an<a href="https://www.23andme.com/sarcoma/videos/"> evening gathering</a> for the community giving patients a chance to directly interact with her and other scientists at 23andMe, as well as with sarcoma researchers and advocates.
<img loading="lazy" decoding="async" class="aligncenter wp-image-6395 size-full" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large.jpg" alt="" width="350" height="289" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/04/sarcoma-large.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/04/sarcoma-large-300x248.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
“It’s important for researchers to meet patients,” Kim said recently. “It gives more meaning to what we do. There’s more than just numbers in research. Understanding the personal stories and each person’s journey gives what we do more relevance and meaning, but it also gives us a better picture of the disease. It all goes back to the quality of measurement in research. If you can talk and interact with patients and they have a voice and that is part of the data collection, it improves the what we do. I know it does for my work.”
Kim plans to present some preliminary data in Chicago and report back over the next few days on some of the most interesting presentations.

23andMe at Oncology Conference

By Meghan Mullins
Before joining 23andMe, I worked at a more traditional genetic research lab. Like virtually all research centers, we didn’t return genetic results to our research participants.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-13288" title="CancerInfographic" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg" width="300" height="254" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic-768x650.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />
I occasionally thought about what that meant, that I knew more about an anonymous stranger’s DNA than he or she ever would. &nbsp;These people had variants that scientists had never seen before, but the research participants would never learn of this.
Last fall I moved back to the Bay Area and joined the research team at 23andMe. I suddenly found myself in a completely different environment — not only do we return data to research participants, but they play an active role in the research process. &nbsp;23andMe partners with patients who work side-by-side with us to dramatically accelerate genetic discovery.
We recently launched a 23andMe Research Ambassador program, where research participants have volunteered to help more formally spread awareness of and expand our <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">Sarcoma</a>,<a title="Myeloproliferative Neoplasms (MPN)." href="https://www.23andme.com/mpn/" target="_blank" rel="noopener"> Myeloproliferative Neoplasms (MPN)</a>, and <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener">Parkinson’s &nbsp;</a> research initiatives. In honor of National Cancer Research Awareness month, we asked some of our newly minted Sarcoma and MPN Ambassadors to share their cancer stories.
Each of these ambassadors – Tracy, Ruth Ann, Natalie, Greg, and Cheryl-Anne – describe the uncertainty he or she faced when being diagnosed with a rare cancer. &nbsp;Tracy says her doctors at first did not know if her tumor “was a chondrosarcoma or a chordoma. &nbsp;Apparently [it was] one in a million.” &nbsp;For many, the simple lack of information available feels like hitting a wall. &nbsp;Ruth Ann joined our Sarcoma Community because “having been so discouraged in my own journey with the lack of information about sarcomas, I was more than willing to sign up to start a project that might provide some real answers.”
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<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11373" title="researchrevolution-fist" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/researchrevolution-fist-173x300.jpg" width="173" height="300">
&#8211; Do you have sarcoma, or know someone who does? Learn how to join our <a href="https://www.23andme.com/sarcoma/">Sarcoma research community today</a>.
&#8211; Do you have an MPN, or know someone who does? Learn how to join our <a href="https://www.23andme.com/mpn/">MPN research initiative today</a>.
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Cheryl-Anne agrees, saying that “the more we know, the more we will be able to make sure the right patient gets the right drug at the right dose at the right time.” A sense of community and support also drew many to our research initiatives. &nbsp;Greg says that “connecting with others who have a similar interest in fighting sarcoma was my initial motivator in joining 23andMe.” &nbsp;When asked what advice he would give to someone who was just diagnosed, he said to “connect with others who have been in similar situations. &nbsp;Learn from their successes and mind their shortcomings.”
Our research Ambassadors also desire to look at the big picture when studying cancer risk. Greg notes that it’s currently unknown how different risk factors, like “radiation or chemical exposure, a virus or genetic factors,” interact to cause sarcomas. He wants “to help the scientists come closer to solving these questions.” &nbsp;Ruth Ann adds that “since it is so rare, there have to be many more factors than genetics alone that affect the occurrence of sarcoma. &nbsp;But, that doesn’t mean there isn’t a genetic component.” &nbsp;23andMe wants to learn more about those different factors, too, so we combine our genetic data with survey responses to study all aspects of cancer risk.
Cheryl-Anne has enjoyed exploring her own 23andMe data, saying that “it is fascinating to learn about myself, my own biology. &nbsp;This is me, my chromosomes, my DNA, and it helps me to make better choices for myself.” &nbsp;Natalie’s advice to someone else with an MPN is to “get a 23andMe spit kit. &nbsp;Find out your risks, and go back to your doctor and share that information. &nbsp;You learn a lot about yourself. . . I am very glad that I went through with that decision.”
Tracy was able “to provide the raw data to a genetic counselor for hereditary cancer testing for a condition called Ollie&#8217;s disease, where tumors mutate into sarcomas.” &nbsp;Ruth Ann has “enjoyed filling out the surveys, and getting the results about ordinary things. &nbsp;Who knew there was an asparagus pee gene?” &nbsp;We also make sure to share new discoveries with our research participants who helped us find them. &nbsp;Greg is grateful for 23andMe’s “sincere partnership in making strides to identifying the root cause of this life threatening disease.”
Scientists may have the best in technology and theory at their disposal, but they cannot move forward without research participants who are willing to give their time and energy to scientific pursuit. &nbsp;Natalie hopes that scientists and those with rare disease can “help each other, hand in hand.” &nbsp;I feel so incredibly lucky to interact with these generous individuals on a daily basis, to see their desire to give back so that others do not have to face the fear and uncertainty that they felt.
23andMe is intended for research and educational purposes only. &nbsp;23andMe’s services are not a substitute for professional medical or diagnostic advice.
Meghan Mullins is a research assistant at 23andMe and works with our Research Communities. Meghan studied Human Biology at Stanford University. She spent a few years studying the genetics of obesity and diabetes in the Pima Indians as part of a NIH Postbaccalureate Intramural Research Training program, and played a key role in a large sequencing project that discovered several variants of interest in the MC4R gene.

23andMe Partnering with Patients

<img decoding="async" class="alignright size-full wp-image-13288" title="CancerInfographic" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/CancerInfographic.jpg" alt="" width="625" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic.jpg 849w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/CancerInfographic-768x650.jpg 768w" sizes="(max-width: 849px) 100vw, 849px" />
23andMe is passionate about fighting cancer. We’re researching specific forms of cancer and treatments (see sidebar) and also learning more generally about cancer through our Cancer Family History survey (men’s version and women’s version). Personal experiences have the potential to fuel important research discoveries and by taking this survey customers can tell us how cancer has touched their lives.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px; margin-bottom: 10px; font-size: 12px;">
May is National Cancer Research Awareness Month
You can contribute to research on cancer by taking the Cancer Family History survey (men’s version and women’s version) and if eligible, participating in the following studies:
&#8211; Do you have sarcoma, or know someone who does? Learn how to join our <a href="https://www.23andme.com/sarcoma/">Sarcoma research community today</a>.
&#8211; Do you have an MPN, or know someone who does? Learn how to join our <a href="https://www.23andme.com/mpn/">MPN research initiative today</a>.
&#8211; If you or someone you know has been diagnosed with metastatic breast cancer, check out our <a href="https://www.23andme.com/invite-study/">innovative online study with Genentech</a>.
</div>
Within just 2 months of launching the survey over 20,000 customers (9,700 women and 11,000 men) have completed it! Although we’ll likely need more data to be able to find interesting genetic and non-genetic associations for different types of cancer, what people are already telling us is very interesting:
<ul>
<li>Cancer is relatively common in the 23andMe database</li>
</ul>
About 20% of women and 16% of men had a diagnosis of some form of cancer (this included relatively common non-melanoma skin cancers). These numbers are higher than the <a href="https://www.cdc.gov/nchs/fastats/cancer.htm" target="_blank" rel="noopener noreferrer">national adult average of 8.5%</a>, which may reflect the fact that 23andMe customers include individuals enrolled in our <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener noreferrer">Sarcoma</a>, <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">MPN</a> and <a href="https://www.23andme.com/invite-study/" target="_blank" rel="noopener noreferrer">Metastatic breast Cancer</a> research communities. People with a strong family history of cancer might also be more interested in undergoing genetic testing and taking this survey.
<ul>
<li>Approximately 50% have a 1st degree relative with cancer</li>
</ul>
Just over half of respondents have a mother, father, child or sibling who had been diagnosed with cancer.
<ul>
<li>Many have parents who suffered from breast or prostate cancer</li>
</ul>
Nearly 10% of respondents (combined male and female) have a mother with breast cancer while just over 1% had a father with prostate cancer.

Cancer Touches Everyone

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-3837" title="DNA code analysis" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg" alt="" width="300" height="199" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/06/atcg-300x199.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/06/atcg.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The term “sarcoma” encompasses over a hundred forms of rare cancers, and the cause behind many of these forms is unknown.
<h6>More on Ewing Sarcoma</h6>
Ewing sarcoma, however, is one sarcoma for which the biology is relatively well understood.
This form is caused by a gene fusion &#8212; a DNA rearrangement resulting in two genes being fused together.  In the case of Ewing sarcoma, the fused genes are EWSR1 on chromosome 22 and typically FLI1 on chromosome 11. Although not much is known about risk factors for Ewing sarcoma, a <a href="https://blog.23andme.com/articles/ewing-sarcoma" target="_" rel="noopener">recent study</a> identified genetic variants associated with higher risk for the condition.
Now, a team of French researchers has uncovered the underlying cause of a new type of sarcoma: a different gene fusion.
<h6>New Research Findings</h6>
In this new study published in <a href="https://www.nature.com/ng/journal/v44/n4/full/ng.1107.html">Nature Genetics</a>, the team led by Olivier Delattre and GaÃ«lle Pierron studied tumors similar to Ewing sarcoma but lacking the EWSR1-FLI1 gene fusion, focusing primarily on bone sarcomas affecting adolescents and young adults. Altogether the researchers examined almost six hundred tumor samples and discovered that twenty-four of these tumors had identical genetic rearrangements &#8212; but a different one than that associated with Ewing sarcoma. This newly-discovered subtype of sarcoma results from a gene fusion between the BCOR and CCNB3 genes, both of which are located on the X chromosome.
<div style="border: 1px solid #000; padding: 10px; font-style: italic; margin-bottom: 15px; width: 200px; float: right; margin-left: 15px;"><img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" style="float: left; margin-right: 15px;" title="small_23andMe_logo" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />You can help! If you&#8217;ve been diagnosed with any type of sarcoma, <a href="https://www.23andme.com/sarcoma">join 23andMe&#8217;s Sarcoma Research Community today</a>. Even if you don&#8217;t have sarcoma, you can still contribute to research by <a href="https://www.23andme.com/store">becoming a 23andMe customer</a> and answering surveys.</div>
The two genes involved in this new type of sarcoma both have important biological roles. The BCOR gene encodes a protein that regulates the activity of genes (specifically, genes within a type of stem cell found in bone marrow). Mutations in the BCOR gene can result in serious diseases, such as <a href="http://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome" target="_" rel="noopener">oculofaciocardiodental</a> and <a href="http://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome" target="_" rel="noopener">Lenz microphthalmia</a> syndromes. In addition, BCOR-CCNB3 is not the first documented gene fusion involving BCOR causing disease; when the BCOR gene fuses with the <a href="https://www.ncbi.nlm.nih.gov/pubmed/20807888">RARA</a> gene on chromosome 17, the result is another cancer that affects the blood and bone marrow.
<h6>CCNB3</h6>
The role of the second gene, CCNB3, is somewhat less obvious. This gene encodes a protein expressed only in the testis and is important for the formation of new sperm cells.
The researchers hypothesized that the production of this protein in cells outside of the testis was a key factor in this new type of sarcoma. Using additional experiments, they observed that increased levels of CCNB3 protein led to increased cell proliferation &#8212; a hallmark of cancer &#8212; and that out of nearly one thousand tumor samples, only tumors with the BCOR-CCNB3 gene fusion had high levels of the protein encoded by the CCNB3 gene.
Delattre and Pierron’s findings suggest that the BCOR-CCNB3 gene fusion is directly related to the development of this form of sarcoma. This type of sarcoma may also share other attributes with the better-understood Ewing sarcoma, which results from a different gene fusion. Such new knowledge will hopefully translate into better sarcoma diagnoses and, someday, better treatments.

Gene Fusions Point to a New Type of Sarcoma

<img loading="lazy" decoding="async" class="wp-image-11716 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png" alt="" width="1496" height="692" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud.png 1496w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-300x139.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-768x355.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1024x474.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-880x407.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/01/Q1-2012-Health-Watch-Word-Cloud-1180x546.png 1180w" sizes="auto, (max-width: 1496px) 100vw, 1496px" />
Like many people around the world, the health content team at 23andMe rang in 2012 with resolutions of staying healthy and it seemed fitting to delve into the genetics underlying response to diet and exercise, eating behavior and cholesterol levels. As we eased in to the new year, we segued into reproduction, updating our existing reports on male infertility and gestational diabetes, and we also recently added new genetic associations for tuberculosis susceptibility, Hodgkin lymphoma, and atopic dermatitis.
In the end of February we paid tribute to rare diseases by celebrating <a href="../2012/02/29/did-you-know-its-not-so-rare-to-have-a-rare-disease/" target="_blank" rel="noopener">Rare Disease Day</a> and putting out new reports for <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">sarcoma</a> and <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener">myeloproliferative neoplasms (MPN)</a> –  rare cancers that we are particularly passionate about as evidenced by our <a href="../2012/02/27/weve-come-a-long-long-way-together-but-were-not-there-yet/" target="_blank" rel="noopener">innovative research efforts</a> for these conditions.
Read more about some of our new and updated reports…
<h6>Tying genetics to diet and exercise</h6>
Does exercise help you lose weight or does it barely seem to make a difference? Have you ever wondered why some people who eat a lot of fatty foods don’t gain weight while others seem to pack on the pounds? Our Response to Exercise and Response to Diet reports may provide insight into the genetics underlying these complex topics that are already known to be strongly influenced by behavior and environment. Similarly, if you tend to reach for second helpings, our report on eating behavior may also shed some light!
<h6>Insight into your cholesterol</h6>
Have you ever wondered why your LDL cholesterol level is naturally low or why it seems to stay high despite your best efforts to lower it? Towards the end of January we added a new report for LDL cholesterol – the “bad” cholesterol that is associated with heart disease – and updated our report on HDL cholesterol, which is the “good” cholesterol that is considered protective against heart disease. These reports may offer some clues for you,  but it’s important to keep in mind that the genetic landscape of cholesterol levels is highly complex and that lifestyle also plays a big role.
<h6>Genetic findings on reproductive health in Asians!</h6>
Sexual reproduction is what keeps the human species going, but from getting pregnant to having a healthy child, it doesn’t always work like a well-oiled machine. Approximately 15% of couples experience difficulties getting pregnant and <a href="../2012/02/06/snpwatch-genetic-variants-linked-to-male-infertility-in-asians/" target="_blank" rel="noopener">about half of these cases</a> are due to male infertility. We’ve updated our Male Infertility report to include genetic variants that influence sperm count in Asian men. In February we also added new findings for Asian women to our report on gestational diabetes, a pregnancy complication with symptoms similar to type 2 diabetes that affects about 3-5% of pregnant women.
<h6>Revving up reports for rare diseases</h6>
In the United States, a disease is defined as “rare” if it affects<a href="http://rarediseaseday.us/about/" target="_blank" rel="noopener"> fewer than 200,000 individuals</a>, or roughly one in 1500. Sarcoma and myeloproliferative neoplasms (MPN) fall into this category and in early March we added new reports for both of these rare cancers. Although these reports are considered “preliminary research” findings, mainly because they were generated with relatively small study groups, they are still exciting progress in research on these rare disorders.
23andMe customers can find more details on these and other conditions in their accounts. Not a member? <a href="https://www.23andme.com/store" target="_blank" rel="noopener">Visit our store</a>, or set up a<a href="https://www.23andme.com/user/signup/" target="_blank" rel="noopener"> free trial account</a> to browse these and other reports.

Health Watch: New Year’s Resolutions, Reproduction and Rare Diseases

We often hear about the &#8220;nature versus nurture&#8221; debate, framing it as a battle between our genes and our environment. But in many cases it&#8217;s not a battle at all, it&#8217;s a partnership. The way our genes impact our health and traits may change depending on our environment.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="684" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-981323210-1024x684.jpg" alt="" class="wp-image-30209" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-981323210-1024x684.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-981323210-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-981323210-768x513.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-981323210-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/09/GettyImages-981323210-1180x788.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Understanding both &#8220;nature&#8221; and &#8220;nurture&#8221; is especially important when we consider complex skills critical to success in life, like reading. Thanks to the contribution of over a million 23andMe® research participants, a <a href="https://pubmed.ncbi.nlm.nih.gov/40991152/" target="_blank" rel="noreferrer noopener">new study</a>, led by scientists from the University of Edinburgh, is helping to untangle how both genes and environment work to shape literacy.



<h2 class="wp-block-heading" id="h-the-reading-puzzle-nbsp">The Reading Puzzle&nbsp;</h2>



Literacy is a powerful predictor of life outcomes, from education level to income. For decades, researchers have tried to understand the roles genetics and environment play in why some people learn to read and spell more easily than others.



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="425" height="282" src="http://35.88.189.111/wp-content/uploads/2008/07/twins.jpg" alt="" class="wp-image-392" style="width:309px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/07/twins.jpg 425w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/07/twins-300x199.jpg 300w" sizes="auto, (max-width: 425px) 100vw, 425px" /></figure>



Several <a href="https://pubmed.ncbi.nlm.nih.gov/23725549/" target="_blank" rel="noreferrer noopener">studies</a> of <a href="https://pubmed.ncbi.nlm.nih.gov/19076484/" target="_blank" rel="noreferrer noopener">twins</a> in the United States suggested an interaction between genes and environment. In these studies, how much influence genetics had on reading skills seemed to be higher in families with a higher socioeconomic status. In other words, genetics appeared to have a bigger impact on a child&#8217;s reading ability when they were in a more advantaged environment. This idea is called a gene-by-environment interaction.



However, the evidence of this gene-by-environment interaction was mixed in studies conducted in the <a href="https://pubmed.ncbi.nlm.nih.gov/19296213/" target="_blank" rel="noreferrer noopener">United Kingdom</a> and <a href="https://pubmed.ncbi.nlm.nih.gov/28832969/" target="_blank" rel="noreferrer noopener">Australia</a>. This puzzle led researchers to ask: can we use modern genetic data to test this theory in large, diverse populations?



<h2 class="wp-block-heading" id="h-a-new-approach">A New Approach</h2>



Researchers utilized summary statistics from a 2022 <a href="https://blog.23andme.com/articles/study-identifies-genetic-links-to-dyslexia" target="_blank" rel="noreferrer noopener">genome-wide association study (GWAS) on dyslexia</a> to construct a polygenic score—a way of estimating someone’s genetic tendency toward a trait by adding up the small effects of thousands of DNA differences.



The team then applied this polygenic score to two large groups of children and adolescents in Australia and the United Kingdom to see if the score&#8217;s effect on reading and spelling skills was moderated by their family&#8217;s socioeconomic status. Socioeconomic status was used as a broad measure of environmental advantage, capturing factors like parental education level and household income.&nbsp;



<h2 class="wp-block-heading" id="h-what-was-discovered-two-parallel-paths">What Was Discovered: Two Parallel Paths</h2>



Both the dyslexia polygenic score (nature) and socioeconomic status (nurture) were significant predictors of reading and spelling performance. Together, demographic, genetic, and socioeconomic factors explained between 8% and 11.6% of the variation in reading skills.



However, the study found no interaction effect. Nature and nurture were both important, but they worked in parallel.



This means the influence of a person&#8217;s genetic predisposition was the same, regardless of their family&#8217;s socioeconomic background. In these groups, a higher genetic predisposition for reading provided a similar boost to children from all socioeconomic backgrounds.&nbsp;



<h2 class="wp-block-heading" id="h-the-bigger-picture">The Bigger Picture</h2>



This finding is an important reminder to scientists to consider different environments when looking for gene-by-environment interactions. While some earlier US-based studies suggested an interaction, the different environments in these large UK and Australian groups showed a different outcome. Suggesting that both our genes and our environment make their own distinct contributions to the development of this fundamental skill.



Of course, every study has its limitations. The 23andMe research participants who contributed to the original GWAS are a self-selecting group and may not be perfectly representative of the general population. Additionally, only about 5% of 23andMe research participants said they had dyslexia, which is on the lower end of the <a href="https://pubmed.ncbi.nlm.nih.gov/18652545/" target="_blank" rel="noreferrer noopener">commonly cited 5–10% range</a>.



Even so, this large-scale study provides a crucial piece of the puzzle, emphasizing how vital it is to test scientific findings in diverse environments to get the full story.

Nature and Nurture: A New Look at the Genetics of Reading Ability

This week the American Society of Human Genetics (ASHG) is having its <a href="https://meetings.ashg.org/event/ASHG25/home/" target="_blank" rel="noreferrer noopener">annual meeting</a> in Boston. Attending the ASHG annual meeting is about more than just presenting our work, it&#8217;s one way we are working to ensure that the 23andMe® Research Institute contributes to a healthier future for everyone.



<ul class="wp-block-list">
<li>Amplifying impact: Sharing our discoveries with a global audience helps our work reach those who can build upon it, accelerating the path from discovery to clinic.</li>



<li>Fostering collaboration: It&#8217;s where we connect with the brightest minds in the field. These conversations spark new ideas and forge partnerships that are essential for tackling complex diseases.</li>



<li>Staying on the cutting edge: Exposure to the latest technologies and unpublished data keeps our research relevant and innovative.</li>
</ul>



<h2 class="wp-block-heading" id="h-23andme-research-institute-at-ashg">23andMe Research Institute at ASHG</h2>



For those attending, stop by our posters in the following sessions:



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WEDNESDAY, OCTOBER 15TH 2:30 &#8211; 4:30 PM (Posters; Board #2004W) Sustaining Research Ethics in Times of Change: A Framework from the 23andMe Research Program



presented by Emily DelloRusso, Principal Regulatory Science Manager
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THURSDAY, OCTOBER 16TH 2:30 &#8211; 4:30 PM (Posters; Board #2035T) Explore23: a privacy-forward, secure, extensible, and easy-to-use web application for exploration of a large genomic research cohort



presented by Julie Granka, Director, Statistical Genetics
</div>



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<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="819" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-1-819x1024.png" alt="" class="wp-image-34328" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-819x1024.png 819w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-240x300.png 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-768x960.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-704x880.png 704w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-944x1180.png 944w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1.png 1280w" sizes="auto, (max-width: 819px) 100vw, 819px" /></figure>
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FRIDAY, OCTOBER 17TH 2:30 &#8211; 4:30 PM (Posters; Board #3014F) Learning about a genetic predisposition to depression is psychologically well tolerated among those with high polygenic risk scores



presented by Rebecca Berns, Sr. Product Scientist I, Genomic Health and Sciences
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Interested in reading more? 23andMe has contributed to <a href="https://research.23andme.com/publications/" target="_blank" rel="noreferrer noopener">more than 300 research publications</a>.

23andMe Research Institute Attending ASHG 2025

Cannabis is already one of the most widely used drugs globally, and its use will likely grow even more as it becomes more socially accepted and legally available. For many the recreational use of cannabis poses few problems, but for as many as a third of users, it becomes problematic developing into an addiction or what scientists call cannabis use disorder. Research suggests that genetics may explain why.



<h2 class="wp-block-heading" id="h-searching-the-genome-for-clues">Searching the Genome for Clues</h2>



In collaboration with 23andMe Research Institute, researchers at the University of California, San Diego <a href="https://www.nature.com/articles/s41380-025-03219-2" target="_blank" rel="noreferrer noopener">published a study</a> today that found genetic links to cannabis use as well as links to psychiatric, cognitive, and physical health. The researchers used data from more than 130,000 people who consented to participate in 23andMe research. Participants answered survey questions on whether they had ever used cannabis (“lifetime use”) and, for those who had, how often they used it during their heaviest 30-day period (“frequency of use”). The team then conducted genome-wide association studies searching for genetic variants linked to ever trying cannabis and how often people used the drug.



<h2 class="wp-block-heading" id="h-what-the-data-revealed">What the Data Revealed</h2>



Researchers found that having ever used cannabis was associated with two genetic regions: CADM2—a gene <a href="https://blog.23andme.com/articles/scientists-identify-genes-associated-with-cannabis-use" target="_blank" rel="noreferrer noopener">previously linked</a> to cannabis and other substance use, impulsivity, and risk-taking—and GRM3. While GRM3 has been tied to alcohol use, schizophrenia, and certain personality traits, this is the first time it’s been linked to cannabis use. How often someone used cannabis was associated with a different variant also near CADM2, strengthening this gene’s role in cannabis behaviors. Both having ever used cannabis and how frequently someone used cannabis were genetically linked to other substance use, pain, and psychiatric conditions like depression. Researchers also created polygenic scores—which tally the effects of many different genetic variants—to estimate both the likelihood of ever having used cannabis and the frequency of cannabis use. These polygenic scores were able to replicate associations between cannabis use and substance use and mood disorders in two other independent research datasets (All of Us and BioVU). The researchers also uncovered novel associations with anxiety, celiac disease, HIV, and viral hepatitis.



<h2 class="wp-block-heading" id="h-why-this-research-matters">Why This Research Matters</h2>



Most genetic research on cannabis has focused on two points in the spectrum: first use and cannabis use disorder. But the stages in between—like how often someone uses cannabis—are just as important. Studying these “pre-addiction” traits may help determine who is more likely to progress from a casual user to someone with cannabis use disorder. This study was one of the first genome wide association studies to look at traits that may lead to cannabis use disorder.&nbsp;



Traits like frequency of cannabis use can reveal genetic factors that shape vulnerability before addiction develops. Understanding these factors could eventually help predict risk for cannabis use disorder and related health conditions.



<h2 class="wp-block-heading" id="h-more-than-just-dna">More Than Just DNA</h2>



Like all research there are some important considerations to keep in mind for this study:



<ul class="wp-block-list">
<li>While this research focused on genetics, many non-genetic factors may also play a significant role in a person&#8217;s likelihood of using cannabis or developing cannabis use disorder.</li>



<li>The study was conducted in people of European descent (based on an analysis of their local genetic ancestry), so the findings may not fully apply to people of other ancestries.</li>



<li>The measure of frequency (use days in a 30-day window) of using cannabis doesn’t capture full patterns such as the duration of regular use or quantity consumed.</li>



<li>While GRM3 is a promising lead, more work is needed to understand how the genetic variant in this region affects cannabis use biology.</li>
</ul>



<h2 class="wp-block-heading" id="h-the-road-ahead">The Road Ahead</h2>



Future research will need to expand to larger and more diverse cohorts and include other cannabis-related traits such as craving, withdrawal, and response to cannabis. Combining genetic insights from multiple stages of cannabis use could:



<ul class="wp-block-list">
<li>Improve the discovery of new genetic variants</li>



<li>Help build predictive models for problematic use</li>



<li>Clarify how cannabis genetics intersect with physical and mental health</li>
</ul>



Takeaway: Studying genetic influences on early cannabis use behaviors could eventually help predict risk for cannabis use disorder and related health conditions, and may help shed light on who is most at risk for cannabis use disorder.&nbsp; These findings mark an important step toward understanding the genetics of cannabis use and its health consequences.

New Genetic Insights Into Cannabis Use

<h6 class="wp-block-heading" id="h-a-new-study-may-help-identify-and-more-quickly-help-the-60-of-people-with-major-depression-who-do-not-get-relief-from-their-initial-treatments">A new study may help identify and more quickly help the 60% of people with major depression who do not get relief from their initial treatments. </h6>



It is estimated that 60% of patients with major depressive disorder don&#8217;t find relief from their first medication, and as many as one-third develop <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10503923/" target="_blank" rel="noreferrer noopener">treatment-resistant depression</a>, which is often defined as still experiencing symptoms after trying at least two antidepressants.



Researchers at Johnson &amp; Johnson and the 23andMe Research Institute used advanced machine learning techniques to accurately identify those at most risk for treatment-resistant depression, a massive breakthrough for those suffering with this condition.



The groundbreaking research, published this week in the journal <a href="https://pubmed.ncbi.nlm.nih.gov/41028019/" target="_blank" rel="noreferrer noopener">Scientific Reports</a>, used only self-reported information from about 23,000 people who consented to participate in 23andMe research. The model included a total of 101 predictive factors, including such things as age, symptoms that persist between episodes of depression, the duration of episodes of depression, stress levels, and suicidal thoughts. 



Using this predictive model, researchers were able to accurately predict those at the highest risk for treatment-resistant depression 78% of the time, according to the study.&nbsp;



The predictive model did not use either genetics or lab results, just questions that can be easily assessed by a clinician.



<h2 class="wp-block-heading">Why This Matters</h2>



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Typically, antidepressants used to treat major depression take a little time to work, up to a month or a month and a half. When a treatment does not work, clinicians often prescribe an alternative medication. When someone with depression fails to respond to at least two different medications, they are deemed to have treatment-resistant depression. In many cases, it can take around a year for someone to finally be diagnosed with treatment-resistant depression.



That long delay in finding effective treatment has a cost, not just in the time it takes to identify treatment but in the prolonged suffering for those in the throes of depression, unable to get relief.&nbsp;



The promise of the kind of predictive modeling described in this new study is that it would give both people with depression and clinicians who treat them a tool to flag those who might not respond to standard therapies.



Instead of waiting to see if initial treatments are effective, it may accelerate the process of finding alternatives. Additionally, this predictive model only utilizes patient-reported information; no expensive testing is required.&nbsp;



<h2 class="wp-block-heading">More About the Predictive Model</h2>



The model identified eight primary factors that predict treatment resistance, as reported by research participants. Each offers different dimensions of their depression.



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Participants reported on the different symptoms that persisted between the episodes of depression. They reported on how long each episode of depression lasted, and how many years they&#8217;d experienced these periodic episodes. Also included in the self-reported data were levels of stress, or whether they had recurring post-traumatic stress, and two critical factors that looked at more external stressors and life events. Also factored into the modeling was a participant&#8217;s age and whether they had suicidal thoughts. Finally, the model included the self-reported timing between episodes of depression, which was significant when the time between episodes was shorter.



Using these factors and advanced machine learning the researchers were able to accurately distinguish between those who were treatment-resistant and those who responded to treatment. An accurate way to identify if someone will or will not respond to treatment could translate into meaningful clinical benefits. It could mean the difference between waiting months for effective treatment instead of years.&nbsp;



<h2 class="wp-block-heading">More Personalized Depression Care</h2>



This research represents a crucial step toward more personalized mental health treatment and a move away from a &#8220;one-size-fits-all&#8221; approach to treatment of depression.&nbsp;



For the millions of people living with depression, this work represents a path toward precision care, shortening the time to effective treatment and improving quality of life.



The future of depression treatment lies not just in developing new medications, but in better understanding who needs what treatment when. This predictive model brings us measurably closer to that goal, promising a world where effective depression treatment is not a matter of luck, but of precision.



If you or someone you know is struggling with depression, please reach out to a mental health professional. The <a href="https://988lifeline.org/" target="_blank" rel="noreferrer noopener">National Suicide Prevention Lifeline</a> (988) provides 24/7 support for those in crisis.

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9657" title="nerves(iStock)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/nervesiStock-300x225.jpg" alt="" width="300" height="225" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/09/nervesiStock-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/09/nervesiStock.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Scientists know that there isn’t one cause for multiple sclerosis (MS), but understanding this complex autoimmune disease has vexed medical researchers for years.
In the <a href="https://www.nature.com/nature/journal/v476/n7359/full/nature10251.html" target="_blank" rel="noopener">largest MS study</a> to date, researchers recently identified 29 new genetic variants associated with the disease in people of European descent, bringing the list of MS-related genetic factors to more than 50.
The work, led by scientists at the Universities of Cambridge and Oxford and funded by the Wellcome Trust, also sheds more light on the molecular biology of the disease. Most of the variants discovered are in or near genes that drive the body’s immune responses, specifically those involved in the production of T-cells.
<a href="http://www.nationalmssociety.org/about-multiple-sclerosis/what-we-know-about-ms/what-is-ms/index.aspx" target="_blank" rel="noopener">Multiple sclerosis</a> is an autoimmune disease in which a person’s immune system attacks the myelin sheath that insulates nerve fibers in the brain and spinal cord. The damage to the sheaths impairs the signals traveling along the nerves, which in turn causes a range of symptoms including weakness, sensory disturbance, fatigue, visual impairments and loss of coordination. About 2.5 million people suffer worldwide from MS with about 400,000 of those in the United States.
“Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis,” said Alastair Compston, of the University of Cambridge, who led the study with Peter Donnelly from the Wellcome Trust Center for Human Genetics on behalf of the International Multiple Sclerosis Genetics Consortium.
“It is now clear that multiple sclerosis is primarily an immunological disease,” Compston said in a press release in early August.
What is also interesting about this latest research is that many of the genetic factors involved in MS are shared with other <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002254" target="_blank" rel="noopener">autoimmune diseases</a>, like Crohn’s disease, lupus and type 1 diabetes.
One of the authors of the study, Dr. David Hafler, a professor of neurology and immunobiology at Yale University, said the breakthrough goes beyond just research into MS, but may help researchers in finding new ways to fight both MS and other diseases.
While researchers know that genetic plays an important role – people of European ancestry are more susceptible and a family history of MS also increases the odds of developing the disease – it’s only one of a large combination of factors that include environmental factors such as vitamin D intake, smoking, exposure to toxic chemicals and things like whether someone has had certain viruses like Epstein-Barr. In short multiple sclerosis is unpredictable and complex.
The new study involved nearly 10,000 people with MS from 15 different countries and a group of more than 17,000 people without the disease. In all, 23 research groups collaborated on the research.

New Associations Found for Multiple Sclerosis

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Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system, causing unpredictable and varying symptoms that differ from person to person. About 1 in 700 people in the United States is affected by the disease. Because MS often runs in families, it&#8217;s thought that there is a substantial genetic component to the disease.
But genetics aren’t the whole story.   If one identical twin has MS, the chance that the other twin will also have the disease is increased by only 30%. Although this is more than the 5% increase in risk seen in non-identical twins, the fact that identical twins (who are theoretically completely the same at the DNA level) are not always concordant for MS has led researchers to assume that environmental factors of some sort must also play an important role.   Everything from viral infections to vitamin D deficiency due to low sun exposure has been suggested.
But the true identical-ness of identical twins has been called into question in recent years.   Research has shown that there may be subtle differences in their genomes.   To test whether tiny changes–either in DNA sequence, gene expression, or chemical modifications to the genome–might play a role in determining why one twin gets MS while the other is spared, researchers from the University of California, San Francisco and the National Center for Genome Resources used a variety of methods to go over the genomes of three sets of MS-discordant identical twins in unprecedented detail.
No matter how the scientists looked at the twins&#8217; genetics, nothing stood out to explain their differences in disease status.   These results, published online today in the journal <a href="https://dx.doi.org/10.1038/nature08990" target="_blank" rel="noopener">Nature</a>, are strong evidence that when it comes to MS, identical twins might enter the world with the same risk, but their individual experiences and exposures determine whether each one will get the disease.
The data from just these three twin pairs gives researchers important information about the relative contributions of genetic and environmental factors in MS.   But more work will be needed to replicate these results and to look even more closely at individual genomes.   The study&#8217;s lead author Sergio Baranzini said in a press release that his team will be able to broaden their study and look at even more twin pairs thanks to steady reductions in the cost of genome sequencing.
More on this story from <a href="https://www.nature.com/news/2010/100428/full/4641259a.html?s=news_rss" target="_blank" rel="noopener">Nature News</a>, <a href="https://www.wired.com/wiredscience/2010/04/multiple-sclerosis-twinmystery/" target="_blank" rel="noopener">Wired News</a> and TheScientist.com.
(23andMe customers can get an estimate of their genetic risk for MS based on analysis of two SNPs in the Multiple Sclerosis Research Report.)

Twin Study Points to Importance of Non-genetic Factors in Multiple Sclerosis

<img decoding="async" class="alignright size-full wp-image-5627" title="x-ray image" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/spinalcordMRI.jpg" alt="x-ray image" width="275" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/spinalcordMRI.jpg 283w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/spinalcordMRI-200x300.jpg 200w" sizes="(max-width: 283px) 100vw, 283px" />
Multiple sclerosis (MS) afflicts the central nervous system, causing unpredictable and varying symptoms that differ from person to person. About one in 700 people in the United States is affected by the disease. Although there is currently no cure for MS, there are treatments that can slow the progression of the disease and enhance the quality of life for people who have this condition.
Researchers have identified several genetic variants in the HLA region of the genome —an area containing many genes involved in immune system function — that seem to affect MS symptoms, disease severity, and response to treatment. One of these variants is in the HLA-DRB1 gene. Known as HLA-DRB1*1501, this variant is associated with increased risk for MS, though exactly how it is involved in development of the disease is unclear.
In a report published online today in the journal &nbsp;<a href="http://archneur.ama-assn.org/cgi/content/abstract/66/12/1531">Archives of Neurology</a>, a team of researchers led by Drs. Madeleine Sombekke and Chris Polman of Vrije University in Amsterdam uncovered a clue which may elucidate the connection between the HLA-DRB1*1501 variant and multiple sclerosis. They analyzed *1501 and other genetic variants in 150 Dutch individuals with multiple sclerosis to see if any of the SNPs were associated with variation in brain and spinal cord lesions.
One SNP in particular, (used as a proxy for HLA-DRB1*1501), was associated with spinal cord lesions. People carrying at least one copy of the A version of had significantly more spinal lesions and had more segments of the spinal cord affected than people with two copies of the G version.
MS is believed to be an autoimmune disorder — wherein the immune system attacks the body’s own cells rather than foreign invaders — and so it makes sense that genetic variants in immune system genes would influence the course of the disease and its clinical features. HLA genes, in particular, encode proteins that contribute to self vs. non-self immune recognition. Previous studies have proposed a link between HLA-DRB1*1501 and disease severity. Since lesions on the spinal cord are often used to diagnose MS and the degree of disability, Sombekke’s team suggests that the association of HLA-DRB1*1501 with spinal cord lesions might help explain its relationship with severity of the disease.

Genetic Link between MS and Spinal Cord Lesions

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5253" title="iStock_000003313784XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/iStock_000003313784XSmall.jpg" alt="iStock_000003313784XSmall" width="313" height="233" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/10/iStock_000003313784XSmall.jpg 401w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/10/iStock_000003313784XSmall-300x224.jpg 300w" sizes="auto, (max-width: 313px) 100vw, 313px" />
New research suggests that your skills behind the wheel may be affected by your genes.
To better understand the effects of a variant in the BDNF gene on motor skills learning, Steven Cramer and colleagues at UC Irvine tested 29 subjects in a driving simulator. Their results, published in the journal Cerebral Cortex, might make you think twice about whom you go on your next road trip with.
Subjects sat in front of a screen with their hands firmly planted at &#8220;10 and 2&#8221; on a steering wheel and guided their &#8220;car&#8221; around a track, attempting to stay centered over a black line. The steering was tuned so that subjects had to begin turning before the screen actually changed.
Over the course of 15 trials, all of the study subjects got better at the driving task. But the seven people with a specific variant improved less than the others. When subjects returned to the lab four days later for a final lap, everyone had forgotten how to drive the simulator a little bit, but they did even worse.
&#8220;These people [the variant] make more errors from the get-go, and they forget more of what they learned after time away,&#8221; Cramer said in a press release.

The BDNF protein helps to regulate how nerve cells make new connections and maintain old ones. The variant, also known as the Val66Met, reduces the amount of BDNF available in the brain and has been linked to impaired learning and memory. Studies have shown that stroke victims with this variant don&#8217;t recover as well as those who lack it.
But there may be an upside: the variant seems to have a beneficial effect on cognition in people with Parkinson&#8217;s disease, Huntington&#8217;s disease, lupus and multiple sclerosis.
&#8220;It&#8217;s as if nature is trying to determine the best approach,&#8221; Cramer said. &#8220;If you want to learn a new skill or have had a stroke and need to regenerate brain cells, there&#8217;s evidence that having the variant is not good. But if you&#8217;ve got a disease that affects cognitive function, there&#8217;s evidence it can act in your favor. The variant brings a different balance between flexibility and stability.&#8221;
See <a href="https://www.wired.com/wiredscience/2009/10/genetically-bad-driving/" target="_blank" rel="noopener">Wired Science</a> for more.

The Bad Driving Gene?

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2744" title="sun" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/sun.jpeg" alt="" width="350" height="260" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/sun.jpeg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/sun-300x223.jpeg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Multiple sclerosis (MS) is a common inflammatory disease that leads to the destruction of the insulating coating that surrounds nerves in the brain and spinal cord. Without this insulation, the electrical impulses the nerves are supposed to carry between the brain and rest of the body get confused or lost along the way, leading to a loss of control of a variety of bodily functions.
Genetic factors, especially variants in immune system genes, are known to play a part in MS.   But environment is important too.   Most striking is the influence of geography.   Increasing distance from the equator is associated with higher prevalence of MS.   Sunlight, and specifically its role in generating active vitamin D in the body, has been proposed to be the reason for this effect. The exact role of vitamin D in the disease, however, has not been shown.
New research, published online today in the journal <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000369" target="_blank" rel="noopener">PLoS Genetics</a>, shows a direct connection between vitamin D and the strongest genetic risk factor for MS found so far. These findings suggest that simply taking a supplement during pregnancy and childhood could prevent this disabling disease from developing.
In laboratory experiments, Sreeram Ramagopalan and colleagues from the University of Oxford and the University of British Columbia showed that a variant of the HLA-DRB1 gene called HLA-DRB1*1501 is turned on by vitamin D.   Other versions of the HLA-DRB1 gene were not responsive to the vitamin.   The researchers did not address what might be responsible for turning these versions on.
In people with European ancestry, each copy of the HLA-DRB1*1501 variant increases the odds of developing MS by about two times compared to someone with no copies. About 40% of this population has at least one copy.
(23andMe customers can check their data for HLA-DRB1*1501 in the Multiple Sclerosis research report.)
The researchers think that in people with the HLA-DRB1*1501 variant, vitamin D deficiency prevents the gene from being turned on during development in utero and in the early years of childhood, when it and other genes like it are involved in training the immune system to distinguish between the body’s own tissues and foreign invaders such as bacteria and viruses.   Immune cells that have failed this basic training but nonetheless been released into the circulation are thought to be behind the nerve cell destruction seen in MS.
According to the authors, the idea that it’s not just vitamin D, but when you get it, is supported by data on MS among people who have migrated from sunny low-risk regions such as the Caribbean to regions with low sunlight such as the U.K., where the risk for the disease is much higher.
“Immigrants who migrate before adolescence acquire the risk of their new country, while those who migrate after retain the risk of their home country,” the authors write.
“This study provides more direct support for the already strong epidemiological evidence implicating sunlight and vitamin D in the determination of MS risk.   Given that a high frequency of vitamin D insufficiency in the general population has been observed, our data support the case for supplementation during critical time periods to reduce the prevalence of this devastating disease,” the authors conclude.

Taking Vitamin D Supplements In Childhood May Prevent Multiple Sclerosis Later

In December a new study created quite a stir in the already-volatile clopidogrel research community. Clopidogrel (trade names Plavix ®) is a commonly prescribed anti-clotting drug. It is inactive in the body until a protein encoded by the gene CYP2C19 converts the drug to its active form. Some people are able to make this conversion more quickly and effectively than others, partially due to genetic mutations in the CYP2C19 gene. How this ability to process clopidogrel impacts a patient’s risk of heart attack and other cardiac events, however, is unclear. Are slow metabolizers (those who can not convert clopidogrel to the active form very well) at higher risk for cardiac events than fast metabolizers?
Many researchers and physicians, based upon the results of recent studies, believe that slow metabolizers of clopidogrel do, in fact, receive less protective benefit from the drug. The evidence for an association between CYP2C19 genotype and cardiac events was perceived to be so strong that, in March of 2010, the <a href="https://blog.23andme.com/articles/fda-adds-boxed-warning-to-plavix-label-to-highlight-reduced-effectiveness-of-the-drug-in-poor-metabolizers" target="_blank" rel="noopener noreferrer">FDA added a boxed warning</a> on the drug labeling for clopidogrel asserting that slow metabolizers of the drug may need “alternative treatments” to avoid heart attacks and other cardiovascular events. Others, however, are less convinced that being able to process clopidogrel quickly actually translates to improved protection against cardiac events. After the FDA released their boxed warning, the American College of Cardiology and the American Heart Association <a href="https://www.ncbi.nlm.nih.gov/pubmed/20585015" target="_blank" rel="noopener noreferrer">published a report</a> maintaining that routine genetic testing for CYP2C19 mutations for the purpose of clopidogrel dosing was not justified by the current research.
Last month Dr. Michael Holmes and a team of researchers from the University College London published a study in the Journal of the American Medical Association stating that although CYP2C19 genotypes affect how quickly one processes clopidogrel, it does not actually affect one’s risk of cardiovascular events. After analyzing results from 32 previously published studies relating clopidogrel and CYP2C19 genotype, they determined that there was likely no true association.

Of particular note to Holmes and his colleagues was the fact that the studies reporting the strongest associations between CYP2C19 metabolizer status and cardiovascular outcomes were also the smallest, perhaps reflecting the tendency for small research groups to publish only positive findings (publication bias). The type of study also seemed to matter &#8212; the preferred, but less common case-control studies were less likely to show an association than the treatment-only studies. The researchers concluded that there is likely no statistically significant association between CYP2C19 genotype and cardiovascular events, although they briefly concede that the specific complication of stent thrombosis might be a &#8220;possible exception.&#8221;
Some scientists, such as Dr. Steven Nissen, have applauded this new meta-analysis. In Dr. Nissen’s editorial “Pharmacogenomics and Clopidogrel: Irrational Exuberance?”, he calls the analysis results “compelling.” Other experts in the field, however, were less enthusiastic about the new study. Dr. Eric Topol, the director of Scripps Translational Science Institute, responded with a rebuttal in his blog, criticizing the study for failing to correctly account for type of treatment and for including patients for whom the benefit of clopidogrel is not well established.
Dr. Topol argues that clopidogrel is useful for preventing clotting in patients who have been treated with stents, and that this is one of the primary uses of the drug. Dr. Topol criticizes the authors for downplaying the association between CYP2C19 genotype and stent thrombosis and their failure to highlight the importance of CYP2C19 genotyping for stent-treated patients. In the study’s combined analysis, both stent-treated patients and patients treated by other means (for whom the benefit of clopidogrel is less established) were included. If clopidogrel does not significantly lower the risk of cardiac events in non-stent patients, then the non-stent patients included in the analysis would make it difficult to observe an association between genotype and cardiac events. Dr. Topol called the failure to control for treatment type a “critical flaw” in the analysis and asserted that the study was “remarkably misleading.”
Certainly, the last word in the clopidogrel debate has not yet been spoken. This study and the ongoing discussion, however, illustrate many of the challenging issues surrounding pharmacogenetic research. Publication bias, inadequate scientific controls, and the difficulty in translating genetic discoveries into clinical outcomes are all obstacles we will need to hurdle to realize the benefits of personalized medicine.

The Debate Over Clopidogrel Continues

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3194" title="bloodtravel1" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodtravel1.jpg" alt="" width="350" height="260" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/bloodtravel1.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/bloodtravel1-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
The U.S. Food and Drug Administration (FDA) has <a href="https://www.fda.gov/Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/ucm203888.htm" target="_blank" rel="noopener noreferrer">updated the label information</a> for the commonly used anti-clotting medication Plavix ® (clopidogrel) to stress to physicians that patients carrying certain genetic variations may not receive the full benefit from the drug.
Plavix reduces the chance a harmful clot will develop by preventing blood cells called platelets from sticking together. Usually prescribed in combination with aspirin, Plavix has been shown to help reduce the risk of subsequent heart attacks or strokes in people who have already suffered from a cardiovascular event. Plavix also reduces the risk of heart attack and stroke in people diagnosed with peripheral artery disease.   The drug is also is used to lower the risk of blood clots in people with unstable angina (chest pain) caused by partially blocked arteries and in those who have had a stent implanted to help keep their arteries open.
Once inside the body, Plavix is absorbed in the intestines and then converted into its active form by enzymes in the liver. But some people have genetic variations that reduce the activity of one of the most critical enzymes – CYP2C19. This, in turn, reduces the amount of active drug in the bloodstream and its effectiveness in preventing clots.
The FDA first added information about poor metabolizers of Plavix to the drug label in May 2009. Additional data has prompted them to add the boxed warning to further caution physicians that some of their patients may be at risk, inform them that testing for CYP2C19 variations is available (although no test is FDA-approved specifically for determining Plavix efficacy), and recommend that other medications or increased dosages of Plavix be used in patients identified as poor metabolizers.
“We want to highlight this warning to make sure health care professionals use the best information possible to treat their patients,” said Mary Ross Southworth, Pharm.D., a clinical analyst in the Division of Cardiovascular and Renal Products in the FDA’s Center for Drug Evaluation and Research, in a press release.
A recently approved drug, Effient ® (prasugrel), may be an alternative for some patients identified as poor metabolizers. Like Plavix, Effient prevents platelets from forming blood clots. The advantage is that the conversion of Effient to its active form can take place in the presence of the genetic variations that affect Plavix. Studies have shown that Effient is effective at preventing heart attacks, strokes and stent-blocking clots.   The risk of dangerous bleeding, however, is higher with this drug.
23andMe Health Edition and Complete Edition customers can view their data for genetic variations in CYP2C19 in the Clopidogrel (Plavix) Efficacy Drug Response Report.
A downloadable PDF version of the Clopidogrel (Plavix) Efficacy report is available to help customers share their results with their doctors.
Only a physician can determine whether Plavix is the right medication for a particular patient and at what dosage it should be given.   The information contained in 23andMe Drug Response reports should not be used to independently establish a drug regimen or abolish or adjust an existing course of treatment.   If you are concerned about Plavix, talk to a health professional.
<ul>
<li>Read more about the Plavix label update<a href="http://www.genomeweb.com/blog/fdas-new-plavix-black-box-warning-could-trigger-surge-cyp2c9-testing" target="_blank" rel="noopener noreferrer"> here </a>and here.</li>
<li>Just last month the FDA updated the label on another anti-clotting medication, warfarin, to include more information on the effects of genetic variations.   Read more<a href="https://blog.23andme.com/articles/fda-updates-label-on-commonly-used-blood-thinner-to-include-dosing-recommendations-based-on-genetics" target="_blank" rel="noopener noreferrer"> here </a>in the Blog.</li>
</ul>

FDA Adds Boxed Warning to Plavix Label to Highlight Reduced Effectiveness of the Drug In Poor Metabolizers

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2372" title="bloodclot" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/bloodclot.jpg" alt="" width="350" height="260" />
Every year, about half of the more than one million people in the United States who have a heart attack survive. But because the first heart attack increases their risk for another one, these people must make major adjustments in their lives to keep their hearts healthy in the future.
In addition to adopting a healthy diet, quitting smoking and losing weight, most people who’ve had a heart attack take medications to help further reduce their risk. Clopidogrel – sold under the trade names Plavix, Iscover, Clopilet and Ceruvin – is a drug commonly prescribed (often in combination with aspirin) to help prevent platelets in the blood from forming clots that can block blood flow to the heart.
Clopidogrel is converted into its active form once it is inside the body. But some people carry genetic variants that reduce the activity of an enzyme central to this conversion process, which in turn reduces the amount of active clopidogrel in the bloodstream and the effectiveness of the drug in preventing clots. Three reports published online this week — two in the New England Journal of Medicine and one in The Lancet — show that genetic variants can increase the chances that a patient will suffer a second major cardiovascular event.

Jessica Mega and co-workers from Brigham and Women’s Hospital and Harvard Medical School in Boston tracked 1,477 subjects who had had unstable angina or a heart attack and were taking clopidogrel.
Their results, published in <a href="http://content.nejm.org/cgi/content/full/NEJMoa0809171" target="_blank" rel="noopener noreferrer">NEJM</a>, showed that those people who carried one or more copies of a function-reducing variation in the CYP2C19 gene that (referred to as *2, *3, *4 and *5) had 1.53 times the risk of having a heart attack, stroke or dying from cardiovascular causes compared to non-carriers. The risk of a stent-blocking clot (in those patients who had stents implanted during angioplasty to keep their arteries open) was increased three-fold.
The second <a href="http://content.nejm.org/cgi/content/full/NEJMoa0808227" target="_blank" rel="noopener noreferrer">NEJM</a> report, from researchers at several Paris hospitals led by Tabassome Simon, showed that in a group of 2,208 heart attack patients taking clopidogrel, carrying two CYP2C19 variants (any combination of *2, *3, *4, or *5) led to a 1.98 times increased risk of heart attack, stroke or death from any cause. Among the 1,535 patients who underwent angioplasty while in the hospital, having two function-reducing CYP2C19 variants increased the risk of cardiovascular events by 3.58 times.
Unlike the study from Mega et al, Simon and colleagues did not see an increased risk in those people with only one copy of a CYP2C19 function-reducing variant.
Finally, Jean-Philippe Collet and colleagues (also from Paris, France) followed the outcomes for 259 young (&lt; 45 years old) heart attack patients taking clopidogrel. Their results, published in <a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(08)61845-0/fulltext" target="_blank" rel="noopener noreferrer">The Lancet</a>, showed that having one or two copies of the CYP2C19*2 variant increased the risk of a second heart attack by 4.54 times. The risk of a stent-blocking clot increased 6.02 times.
Collet et al did not investigate the other CYP2C19 variants included in the other reports.
Although the magnitude of the effect of CYP2C19 variants was different in each report, all three did show that versions of the CYP2C19 gene that reduce its ability to activate clopidogrel also increased the risk of a second cardiovascular event in those patients who have already suffered one. Based on these results, both Simon et al and Collet et al suggest that genotyping patients might be a good alternative to the current practice of monitoring their platelet response to clopidogrel.
But in a <a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(08)61846-2/fulltext" target="_blank" rel="noopener noreferrer">commentary</a> accompanying the report in The Lancet, Dr. Robert Storey of the Cardiovascular Research Unit at the University of Sheffield School of Medicine, UK, argues that testing platelet function in patients is faster than genotyping, and has the added benefit of finding patients who are not responding to clopidogrel due to factors other than CYP2C19 variants, such as age, diabetes, renal failure and cardiac failure.
“Genotyping of patients with acute coronary syndrome is not necessarily the appropriate solution without further work to validate such an approach,” he writes.

Genetic Variants May Reduce Ability of Anti-Clotting Drug Clopidogrel to Prevent a Second Heart Attack

Offering scientists the ability to use our unique research platform for discovery, 23andMe launched a new Genotyping Services for Research (GSR).<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23374" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg" alt="Research Icon" width="285" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg 285w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/12/Research-Icon.jpeg 673w" sizes="auto, (max-width: 285px) 100vw, 285px" />


The new platform gives researchers, who would recruit their own research participants, an end-to-end service that incorporates genetic information into their studies, provides a seamless way to collect phenotypic information and an easy way to track that information. Already, a number of institutions have signed up to utilize the service.
“GSR simplifies the genotyping process and allows any researcher with an IRB-approved study to incorporate genetics into their research, regardless of their own genetics expertise,” said Ruby Gadelrab, 23andMe’s vice president of commercial marketing. “Typically research studies don’t return any data to the participants. We’ve enabled researchers to give results back to participants in the form of the 23andMe experience, which we believe is a huge advantage in recruiting and the way research studies of the future will be conducted.”

<h6>GSR</h6>

23andMe GSR is for researchers recruiting participants for their own cohorts and looking to generate new genetic information. Researchers will be able to use 23andMe’s GSR platform to track and manage their projects, and download data in real-time as samples are genotyped through the new 23andMe Researcher Dashboard.
When paired with 23andMe’s mobile API for ResearchKit, researchers will have the ability create apps to collect digital phenotypes on smartphones to study alongside genetic information.


The end-to-end service includes non-invasive sample collection, DNA extraction, genotyping (arrays, reagents and sample processing), data and project tracking for the researchers, and the ability to return 23andMe reports to participants.
GSR also simplifies the recruiting process, offering non-invasive sample collection through a simple saliva kit, and the ability to recruit nationally by shipping the 23andMe kit directly to participants’ homes.


&#8220;The GSR platform will now allow us to collect genetic information directly from patients participating in medical research studies that use mobile technology.  We&#8217;re hopeful this data can accelerate breakthrough discoveries for complex diseases such as multiple sclerosis.” Daniel Pelletier, MD, vice chair of research, Department of Neurology at the Keck School of Medicine at the University of Southern California.


Those who have signed on to pilot the GSR platform are conducting studies as varied as smoking cessation, cognitive impairment in glioma patients as well as addictions and psychiatric disorders. The list of current collaborators includes researchers at not just USC but also at McMaster University/St. Joseph’s Healthcare Hamilton, the University of California, San Diego; and Washington University in St. Louis, among others.
“Partnering with 23andMe permits us to both accelerate the pace of our work and reduce infrastructure costs. Furthermore, it allows us to give back to our study participants who are interested in their genetic ancestry and health risks. It’s a real ‘win-win’ for us,” said James MacKillop, PhD, Director, Peter Boris Centre for Addictions Research, McMaster University/St.Joseph’s Healthcare Hamilton.

genotyping services for research

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