Editor&#8217;s Note 5/11/23: Since first sharing her story in 2021, Jenn has gone through treatment. She was kind enough to share that with us which was put together in a video by <a href="https://www.freethink.com/sponsored/23andme">Freethink</a>.



<figure class="wp-block-embed 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 life-changing information in my 23andMe DNA reports" width="500" height="281" src="https://www.youtube.com/embed/MlVUbPabrQk?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>



When she began exploring her 23andMe results, Jenn Ford knew she&#8217;d learn something interesting about herself — her traits or her ancestry.



But she hadn&#8217;t expected to find out something so profoundly important for both her and her family&#8217;s health.



&#8220;I believe that knowledge is power, and the more I know, the more I can do about it,&#8221; she said recently.



<h6 class="wp-block-heading" id="h-something-unexpected">Something Unexpected</h6>



A long-time customer, Jenn first began using 23andMe in 2016 when she learned that her family&#8217;s ancestry was primarily Italian, French, German, and Lithuanian. However, she was surprised to see that it also included a tiny amount of Ashkenazi Jewish ancestry, about .2 percent, according to her 23andMe Ancestry Composition report.



It was all fascinating and fun, but nothing unexpected. That changed in 2018 when 23andMe released its BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report.*



When it became available, Jenn wanted to take a look at her report. So, she opened it up after opting in to receive the information and going through an educational module about the report.



&#8220;Oh, that&#8217;s strange,&#8221; she said to herself after scanning the report while at a family cookout.



The report indicated she had one of the three variants for which 23andMe tests. She quickly closed her report thinking she&#8217;d spend a little more time looking at it later. But, having spent almost ten years as an Oncology Technician at Tufts Cummings School of Veterinary Medicine, Jenn knew this was something she couldn&#8217;t ignore.



&#8220;I have a medical brain, and I can understand what something like this could mean,&#8221; she said.



<h6 class="wp-block-heading">Turning to a Genetic Counselor</h6>



When she got home, she opened up her report again, and this time carefully read through it all, even rereading portions of it to her husband, Andrew.



23andMe&#8217;s report looks at three selected variants in the BRCA1 and BRCA2 genes that are most common in people of Ashkenazi ancestry. Females with one of these variants — no matter their ancestry — have a 45-85 percent risk of developing breast cancer by age 70, compared to about 13 percent in the general population. In addition, having one of these variants increases the risk of developing ovarian and pancreatic cancer in females. It can also increase the risk of developing male breast cancer, pancreatic and prostate cancer in men.



At first, she wondered if there could have been a mistake. Then she thought a bit about her family&#8217;s health history. On her mother&#8217;s side, her relatives were all reasonably healthy. On her dad&#8217;s side, however, cancer has stalked generations. So even though her Ashkenazi ancestry was very, very small, she wondered if this variant that is more common in people of Ashkenazi ancestry may have been passed to her from her father’s side of the family. Jenn then called a friend who works in oncology. She ran through her report and got an almost immediate reaction.



&#8216;&#8221;Oh my God, you need to see a genetic counselor,&#8221;&#8216; Jenn recalls her saying.



<h6 class="wp-block-heading">Waiting</h6>



Living not far from one of the world&#8217;s premier cancer centers, Dana Farber Cancer Institute in Boston, she reached out to make an appointment to see a doctor and a genetic counselor.



&#8220;It was the longest five weeks, ever,&#8221; Jenn said.



At her appointment, the first reaction from her doctors at Dana Farber was surprised that 23andMe tested for these three selected variants. Next, after confirming her result, the doctors told Jenn that having one of these variants significantly elevated her risk for breast and ovarian cancer. They then started helping her to better understand what that risk meant, and what options she might consider. Finally, they sent her to see the gynecological oncologist, who estimated her risk of developing cancer was likely more than 75 percent, she said.



The next question was what to do about it. One approach would be to wait, have regular and more frequent medical screening for breast cancer, and to consider ovarian cancer screening. She was also told that every six months she would need to undergo testing in order to make sure that her scans were clean and she was cancer-free. That was something Jenn and her husband did not want to go through as a family, testing and waiting every six months. Another approach was prophylactic surgery to remove her breasts, ovaries, and fallopian tubes, significantly reducing the risk.



&#8220;I was 35, we had our two girls, and I knew I was done having children,&#8217; she said. &#8220;I didn&#8217;t want to deal with living with this risk and just waiting.&#8221;



<h6 class="wp-block-heading">Taking Action</h6>



She decided on preventative surgery and wanted to move quickly.



&#8220;I just knew I was going to have to get surgery,&#8221; she said.



It wasn&#8217;t easy. It required several different surgeries for removal and reconstruction and all the time for recovery. And just as Jenn had very quickly understood how important this information was to her, she also understood that it was also crucial for her family. Her result didn&#8217;t just trigger a conversation with her doctor. It also started discussions with her adult family members. Jenn knew that the same genetic variant that put her at a higher risk of developing cancer might impact them. She thought of her two young daughters and that they had a 50 percent chance of inheriting the risk variant. It would be something they would need to know about when they were adults, Jenn said. She also thought about her other relatives and how this genetic risk might explain cancer and the deaths of many women in her family, she thought.



<h6 class="wp-block-heading">The Cascade Effect</h6>



There&#8217;s something called the cascade effect. It refers to a chain of events that unfold from one initial action, something that&#8217;s often unforeseen. So often, people think of this negatively, as in the collapse of a building or a stock market crash. But there are also positive cascades, a chain of events that trigger positive outcomes from one person to the next.



Several years ago, 23andMe researchers did <a href="https://peerj.com/articles/8/">a small study</a> about how people responded to learning of an unexpected genetic health risk for cancer via their 23andMe report. That study found that those who learned they carried a BRCA risk variant generally took appropriate actions. For example, they talked to their doctors and shared their results with family members. The study showed that the result created a &#8220;cascade effect&#8221; that benefited relatives who might not know of the family risk for these hereditary cancers.



Jenn&#8217;s 23andMe story is a little like that.



&#8220;I have always known that certain cancers were prevalent in my dad&#8217;s family, but no one had received any genetic testing until this point. Which now, in retrospect, blows me away,&#8221; she said.



After she talked to her parents about her results, her dad got a genetic test ordered by his doctor. He, too, had the risk variant, confirming that it came from his side of the family. Last year, a little more than two years later, he learned through screening that he had prostate cancer. He had surgery and, to date, remains cancer-free.



&#8220;If I had not used 23andMe, I would not have taken the steps that I have taken to ensure that I live a long and healthy life,&#8221; Jenn said. &#8220;My Dad would likely not have found his prostate cancer until it was too late. Thank you, 23andMe.&#8221;



Learn more about the BRCA gene and its role in some cancers&nbsp;<a href="https://www.23andme.com/brca/">here</a>.



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



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



*23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which 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 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 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. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. 



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



 The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. 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. 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 report, visit <a href="https://www.23andme.com/test-info/">23andme.com/test-info/</a>.

23andMe Blog

23andMe Blog Team

Taking Action for Health, A BRCA Story

May is <a href="https://www.lupus.org/lupus-awareness-month">Lupus Awareness Month</a>, and this month we’ve released a new report on lupus that is powered by 23andMe research and available for <a href="https://www.23andme.com/membership/">23andMe+</a> members.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2015/07/Lupus-Logo.jpg" alt="" class="wp-image-22692" width="286" height="283" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/07/Lupus-Logo.jpg 572w, https://blogcms.23andme.com/wp-content/uploads/2015/07/Lupus-Logo-300x296.jpg 300w" sizes="auto, (max-width: 286px) 100vw, 286px" /></figure>



<h6 class="wp-block-heading" id="h-about-the-lupus-report">About the Lupus Report</h6>



23andMe’s new Lupus Report is powered by data from people who have consented to participate in 23andMe research. The report uses machine learning techniques to estimate an individual’s likelihood of being diagnosed with lupus.



The estimate is made using a statistical model that includes more than 1,900 genetic markers and information on an individual’s ethnicity and sex assigned at birth. You can learn more about the science and methodology behind our new report in this <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf">white paper</a>.



Note that 23andMe’s genetic report on lupus can provide users with helpful information on their estimated genetic likelihood of being diagnosed with the condition. Still, it is not a substitute for clinical diagnosis and treatment.



<h6 class="wp-block-heading">What is lupus?</h6>



<a href="https://www.23andme.com/topics/health-predispositions/lupus/" target="_blank" rel="noreferrer noopener">Lupus is a group of autoimmune conditions</a> that can occur in several forms, ranging from a minor rash to severe disease that can affect multiple organs in the body. While there are several types of lupus, the most common is called “systemic lupus erythematosus (SLE).” 



Symptoms typically come and go throughout life in flares, but lupus can have serious health consequences if left untreated. Common symptoms include fatigue and muscle and joint pain. In addition, some of those with lupus may experience symptoms like periodic fevers, skin lesions, or a butterfly-shaped rash on the face.&nbsp;



One of the many confounding aspects of the disease is that it can impact almost any part of the body — the skin, joints, or various organs like the heart or the lungs. In addition, the parts of the body affected by lupus can be different between people and have different symptoms associated with them. This wide range of symptoms, and the fact that those symptoms can change over time, make diagnosing the disease challenging.&nbsp;



Like many autoimmune diseases, lupus impacts females at a higher rate than males — nine out of ten people diagnosed with lupus are female.† And among women, it is women of color who are disproportionately impacted. Black, Latina, and Asian women are two to three times more likely to develop lupus than white women, according to the<a href="https://www.lupus.org/resources/lupus-facts-and-statistics"> Lupus Foundation of America</a>.&nbsp;



<h6 class="wp-block-heading">What causes lupus?</h6>



Although the cause of lupus is not yet fully understood, researchers believe that a mix of genetics and environmental factors trigger an overactive immune (or &#8220;autoimmune&#8221;) response. It’s that autoimmune response that can result in damage to the body.&nbsp;



For those with lupus, certain non-genetic factors can trigger flares of disease symptoms. These include viral infections, certain medications, sunlight, and stress.&nbsp;



Scientists have identified dozens of genes associated with an increased likelihood of developing the disease. These genes are involved in various immune system functions, including the production of antibodies, the regulation of inflammation, and the clearance of immune complexes.



A <a href="https://blog.23andme.com/23andme-research/new-insights-from-lupus-research/">four-year study</a> by 23andMe and Pfizer of about 6,000 people with lupus found that about 28 percent of those who participated also had a parent, child, or sibling with lupus. Additionally, we learned that among participants in our study, more than three-quarters reported joint and muscle pain.&nbsp;



However, we also learned that the impact of living with lupus went beyond just those symptoms; many of those participating in our study reported other health impacts. For instance, people with lupus participating in our study were four times more likely to have major depression compared to research participants without the condition. We also found that 44 percent of those in our study reported having high blood pressure.



<h6 class="wp-block-heading">Find Out More</h6>



23andMe+ members can click <a href="https://you.23andme.com/reports/prs.lupus/">here</a> if they wish to view their report.



Current 23andMe Health + Ancestry Service customers on the current genotyping chip can receive this report along with 35+ other reports by joining 23andMe+ from within their account. Learn more<a href="https://you.23andme.com/subscription/"> here</a>.



Not a 23andMe+ customer yet? Learn more about what 23andMe has to offer <a href="https://www.23andme.com/compare-dna-tests/">here</a>.



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



†Within this blog post and the Lupus Report, we use the word “male” to refer to people whose birth sex is male and “female” to refer to people whose sex assigned at birth is female. However, we recognize that being categorized by sex assigned at birth may be an uncomfortable experience for some people, and we do not mean to delegitimize anyone’s gender identity. Learn more about why we made this decision in this <a href="https://customercare.23andme.com/hc/en-us/articles/360010964373-How-23andMe-Uses-Your-Self-Reported-Sex-and-Gender%20Show%20less">help article.</a>



<h6 class="wp-block-heading">Read More Posts on Lupus Research</h6>



• <a href="https://blog.23andme.com/articles/new-insights-from-lupus-research">New Insights from Lupus Research</a>



• <a href="https://blog.23andme.com/articles/living-with-lupus">Living with Lupus</a>

An image of a 23andMe+ New Report Release for Lupus.

23andMe’s New Lupus Report

Not many Mother&#8217;s Day stories revolve around cancer, but for Kenzie Pinck and her mom Shannon, the battle against cancer is a through-line that bonds mother and daughter.



During Kenzie&#8217;s early teens, she spent weeks at her mom&#8217;s side caring for her after surgery and chemotherapy for treatments related to follicular lymphoma, a type of blood cancer. The experience changed them both, bringing them even closer than they already were.&nbsp;



&#8220;I spent my 16th birthday in a tiara in the waiting room while my mom had surgery,&#8221; Kenzie said.



<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="" class="wp-image-31684" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg 1011w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image0-1-296x300.jpeg 296w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image0-1-768x778.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image0-1-869x880.jpeg 869w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image0-1-1165x1180.jpeg 1165w, https://blogcms.23andme.com/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>



<h6 class="wp-block-heading" id="h-this-time-it-s-different">This Time It&#8217;s Different</h6>



Caring for her mom during that time, being her advocate, and connecting with other patients at the hospital helped nudge Kenzie toward medicine. Now a decade later, she&#8217;s a nurse in a neonatal intensive care unit. But the experience also taught both women how important it is to educate yourself about your health risks, to be proactive about your well-being, and to advocate for yourself to ensure you get the care you need.&nbsp;



Seven years ago, Shannon&#8217;s cancer went into remission. She and Kenzie felt the relief of dodging a bullet and a new appreciation for what is important in this life.



But now, mother and daughter are again facing the threat of cancer. This time, however, it&#8217;s different.&nbsp;



&#8220;This is something I can tackle,&#8221; Kenzie said.&nbsp;



<h6 class="wp-block-heading">A Founder Variant</h6>



Last year Kenzie learned from her <a href="https://www.23andme.com/brca/">23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report</a>* that she had a BRCA1 variant that put her at a much higher risk for breast and ovarian cancer. 



Although there are more than 1,000 BRCA variants known to increase cancer risk, the report only looks at three variants. The three so-called <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203114/">&#8216;founder variants&#8217;</a> are much more common among people of Ashkenazi Jewish descent. 



Whereas one in 200-400 people in the general population carries a BRCA variant, about<a href="https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/jewish_women_brca.htm"> one in 40</a> people of Ashkenazi descent has one of the three variants included in 23andMe&#8217;s report. Women with one of these variants have a 45-85 percent chance of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. 



Men with a BRCA variant have an increased risk for male breast cancer and may have an increased risk for prostate cancer. The risk for certain other cancers may also be higher. (Here&#8217;s more about <a href="https://www.23andme.com/brca/">BRCA</a>.)



While Kenzie and Shannon knew they had Jewish ancestry, they weren&#8217;t aware of the role ancestry plays in the risk for some health conditions. Because they didn&#8217;t have a family history of breast cancer, or at least not that they knew, they never suspected that they might have one of the variants that carry a risk. None of their doctors suggested screening.&nbsp;



&#8220;I would have never been tested for it earlier,&#8221; said Kenzie, adding that if not for 23andMe, she and her mom might never have known that they carried this risk until it was too late.



Kenzie&#8217;s first call after seeing her report was to her mom. She wanted to know if Shannon knew about the variants in the BRCA gene that some people carry that put them at a higher risk for cancer.



&#8220;I asked her if she&#8217;d heard about it and if she or anyone in our family had tested before, and she said no.&#8221;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="768" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/image4-768x1024.jpeg" alt="" class="wp-image-31683" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/04/image4-768x1024.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image4-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image4-660x880.jpeg 660w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image4-885x1180.jpeg 885w, https://blogcms.23andme.com/wp-content/uploads/2023/04/image4.jpeg 1160w" sizes="auto, (max-width: 768px) 100vw, 768px" /><figcaption class="wp-element-caption">Kenzie, left, with her mom Shannon after completing nursing school.</figcaption></figure>



IF THAT&#8217;S WHAT I HAVE TO DO



Their experience is surprisingly common. In a study published in <a href="https://www.nature.com/articles/s41598-020-63466-x">Scientific Reports</a>, 23andMe researchers found that many people with a BRCA variant are likely slipping through the cracks under current testing criteria. Another study by<a href="https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2703131"> researchers at Geisinger</a> reported that more than 80 percent of people with a BRCA variant did not know they had one.



Shannon and Kenzie said 23andMe&#8217;s report and the tutorial part of that report spurred them into action. Because of her cancer history, Shannon made an appointment with her oncologist, where she shared the news about Kenzie&#8217;s report. She was referred to a genetic counselor, who immediately set Shannon up for genetic testing. In addition, the genetic counselor suggested Kenzie immediately talk to her doctor to get follow-up testing.&nbsp;



So, Kenzie shared her results with her primary care physician.



&#8220;That conversation didn&#8217;t go well,&#8221; Kenzie said.



In her and her mom&#8217;s journey, that was the only encounter with a healthcare professional that went poorly. Even with all the knowledge she has as a nurse and her experience with her mom&#8217;s cancer, like many people, Kenzie said navigating her own healthcare isn&#8217;t easy. She was looking for insights and advice from her doctor but got something else.



&#8220;I prefer that people don&#8217;t know these results,&#8221; he told her. &#8220;I don&#8217;t know why you tested yourself.&#8221;



Kenzie said her jaw dropped when he said: &#8220;What are you going to do, cut off your breasts at 27?&#8221;



&#8220;I said, &#8216;Maybe, if that&#8217;s what I have to do.'&#8221;



<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="" class="wp-image-31685" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg 683w, https://blogcms.23andme.com/wp-content/uploads/2023/04/IMG_3604-200x300.jpeg 200w, https://blogcms.23andme.com/wp-content/uploads/2023/04/IMG_3604-768x1152.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/04/IMG_3604-587x880.jpeg 587w, https://blogcms.23andme.com/wp-content/uploads/2023/04/IMG_3604-787x1180.jpeg 787w, https://blogcms.23andme.com/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>



<h6 class="wp-block-heading">Advocating for Yourself</h6>



That encounter with her doctor was shocking. His reaction felt like it was from a different era, but it was also a clarifying moment for Kenzie.&nbsp;



&#8220;I know how to stand up to a doctor and advocate for myself,&#8221; she said. &#8220;It scares me for all of the people who don&#8217;t know how to do that. Even with my knowledge and background, it was difficult for me, and I think about all the women who don&#8217;t know how to protect themselves.&#8221;



For Kenzie, this is information about a risk that she could do something about. So why wouldn&#8217;t she want to know?



Her doctor begrudgingly referred her to an oncologist. That interaction couldn&#8217;t have been more different. The oncologist asked her about her health history, lifestyle, and family&#8217;s health history.



&#8220;My doctor never asked me any of those questions,&#8221; Kenzie said.



All that information factors into her risk. For Kenzie, it reminded her of everything she controls and all the avenues she had to potentially lessen her odds of developing cancer. Almost immediately, she stopped drinking even though she never drank much alcohol. She focused on improving her diet, eating more vegetables and fruit and buying organic. She’s exercising more, and focusing more on reducing stress in her life. After talking to her doctor she also stopped using hormonal birth control because it’s been shown to <a href="https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1004188">increase the risk for breast cancer</a> in some women.



A CASCADE



While she was doing that, Kenzie also got confirmatory testing done. She indeed had the variant in BRCA1 that put her at higher risk. Meanwhile, her mom&#8217;s testing also came back positive. So both mother and daughter carry the variant in the BRCA1 gene that puts them at higher risk.



While they navigated more tests and decisions on what to do next, both women realized this information was vital to share with the rest of their family. They&#8217;d already talked to Kenzie&#8217;s older brother, Alex, about it. Men can also carry this risk variant, and the associated increased risk for some cancers. And they, in turn, can pass it on to their children. It turns out Alex also carries the variant. He is following up with his primary care doctor, but said he’s more worried about his mom and his sister.



In addition, Shannon talked to other close family members.&nbsp;



&#8220;Almost everyone tested positive,&#8221; Shannon said.



They&#8217;re each taking action to mitigate their risk.&nbsp;



In genetics, these kinds of family conversations are sometimes called the &#8220;cascade effect&#8221; of testing. It refers to the positive cascade of events triggered within families after someone learns of an inherited risk like this.&nbsp;



Several years ago, 23andMe researchers did <a href="https://peerj.com/articles/8/">a small study</a> on how people responded to learning of an unexpected genetic health risk for cancer via their 23andMe report. That study found that those who learned they carried a BRCA risk variant usually took appropriate actions. Like Shannon and Kenzie, they talked to their doctors and shared their results with family members. The study showed that the result created a &#8220;cascade effect&#8221; that benefited relatives who might not know of the family risk for these hereditary cancers.



&#8220;It was important to share that information,&#8221; said Shannon.



<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/2023/04/Kenzie-and-Alex-1024x768.jpeg" alt="" class="wp-image-31687" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex-1024x768.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex-300x225.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex-768x576.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex-880x660.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex-1180x885.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/04/Kenzie-and-Alex.jpeg 1440w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Kenzie, left, and her brother Alex.</figcaption></figure>



<h6 class="wp-block-heading">Ticking time bombs</h6>



While both Shannon and Kenzie carry the same variant that puts them at risk, they are also at different stages of their lives, so their choices are different.



Kenzie isn&#8217;t yet 30, doesn&#8217;t have children, and is single. So for her, doing more frequent tests and scans makes more sense. In her head, the age 35 is a marker. It gives her more time to decide if she wants to have children, whether and when to get a mastectomy, or whether to remove her fallopian tubes and both of her ovaries.&nbsp;



The choices for her mom, who is in her 50s and has already had her children, are hard but more straightforward. She’d already gone through cancer once before; she didn’t want to again. In addition, because her cancer is in remission it could always come back. Her nightmare would have been to battle two different cancers at the same time.&nbsp;



Although she had a hysterectomy during her previous cancer surgeries, her ovaries were not removed at the time.&nbsp; Shannon decided to have her ovaries removed after seeing her oncologist. He told her that the ovaries &#8220;had to go. They&#8217;re like ticking time bombs.&#8221;



She recently had surgery to remove them, and is scheduled for her mastectomy after Mother’s Day.



<h6 class="wp-block-heading">If That&#8217;s What I Have to Do</h6>



Shannon believes Kenzie saved her life. 



This whole experience has altered both Kenzie and Shannon’s perspectives. Shannon said she recently decided that she wouldn&#8217;t undergo breast reconstruction surgery after her mastectomy; that seemed so much less important to her now.&nbsp;



For her daughter, who always assumed she&#8217;d one day have children, the idea that she might not didn&#8217;t feel like such a radical one anymore. But she has time to decide.&nbsp;



For both women, their experience is a testament that knowledge is power.



&#8220;I think for me, how quickly we were able to move through this process to take control, that&#8217;s powerful,&#8221; said Shannon. &#8220;When I feel a little deflated or sad that Kenzie has this (risk), I worry about her; Kenzie reminds me of how blessed we are to have this knowledge. Look at what we&#8217;ve been able to do, not to get breast cancer. It&#8217;s an inspiration.&#8221;



<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 and reporting 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&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. 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;



<h6 class="wp-block-heading">Warnings &amp; Limitations </h6>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. 



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. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up.&nbsp; Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, visit&nbsp; <a href="http://www.23andme.com/test-info">www.23andme.com/test-info</a>.&nbsp;

Kenzie, left, with her mom Shannon after completing nursing school.

A Mother and Daughter’s Fight Against Cancer

The following opinion piece originally appeared on <a href="https://fortune.com/2023/04/25/human-genome-revealed-secrets-20-years-fulfill-promise-personalized-health-care-anne-wojcicki/" target="_blank" rel="noreferrer noopener">Fortune.com</a>.



By Anne Wojcicki, 23andMe CEO and Co-founder



Sequencing the human genome for the first time was an incredible feat. Twenty years ago this week, the sequencing project was completed with the promise that it would transform how we predict, prevent, and treat almost all human disease.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2015/01/Anne_Color_-Seated-852x1024.jpg" alt="" class="wp-image-22084" width="426" height="512" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-852x1024.jpg 852w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg 250w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-768x923.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-732x880.jpg 732w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-982x1180.jpg 982w" sizes="auto, (max-width: 426px) 100vw, 426px" /></figure>



With such an important&nbsp;<a href="https://fortune.com/company/discovery-insurance/" target="_blank" rel="noreferrer noopener">discovery</a>&nbsp;under our belt, one would believe we are now on the cusp of a new phase in personalized healthcare, one that uses genetics to inform every patient journey. Yet, we are still far from the delivery of personalized healthcare for everyone. The problem is not a lack of scientific progress, but rather a failure to implement widespread genetic testing and personalized medicine for all who could benefit from it.



There are meaningful genetic risk markers identified for hundreds of important health conditions. Increasingly, we know that common and serious health conditions, such as heart disease and diabetes, have both genetic and environmental influences. Using models that combine up to thousands of genetic variants, we can identify who is at highest risk for disease, and use that knowledge to guide healthcare and lifestyle decisions to help prevent the disease or find it earlier.



Today, there aren’t clear guidelines for how to use genetic information in preventive health and most healthcare professionals are not yet equipped to bring genetic testing into routine practice.



Even for conditions where there&nbsp;are&nbsp;clear guidelines, like those influenced by specific variants in well-known genes, we don’t do a great job of identifying the people who would benefit from genetic testing and personalized management.



People with&nbsp;BRCA1&nbsp;and&nbsp;BRCA2&nbsp;genetic variants carry a substantially higher risk for breast, ovarian, and other cancers, yet a&nbsp;<a href="https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2703131" target="_blank" rel="noreferrer noopener">study</a>&nbsp;by researchers at Geisinger reported that more than 80% of people with a&nbsp;BRCA1/2&nbsp;variant did not know they have one. Current guidelines for clinical genetic testing and reimbursement typically rely on patients having a personal or family history of cancer or knowing their ancestral background (since some populations, including those of Ashkenazi Jewish ancestry, are at higher risk). We now know that almost half the people with genetic variants in&nbsp;BRCA1/2&nbsp;don’t qualify for testing based on these guidelines,&nbsp;<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203114/" target="_blank" rel="noreferrer noopener">sometimes because they don’t know their ancestry</a>, which suggests that broader access to genetic testing is needed.



In some cases, there may be opportunities for broader access to genetic testing to help address existing health disparities. For example, we know that a variant in a gene called&nbsp;TTR&nbsp;is common in people of West African descent and increases risk for heart failure. In fact,&nbsp;<a href="https://www.23andme.com/dna-and-personalized-healthcare/" target="_blank" rel="noreferrer noopener">approximately 10% of African Americans over the age of 60 with congestive heart failure are thought to have this variant</a>, but most never know they have it. With new targeted therapies entering the market at a rapid pace, it becomes increasingly important to find the right people who would benefit most from treatment early on.



Genetic testing already plays an important role in guiding medications we use to treat common conditions. As far back as 2007,&nbsp;<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799123/" target="_blank" rel="noreferrer noopener">the FDA added labeling to the anticoagulant Warfarin</a>&nbsp;noting the importance of genetic factors in how a patient would respond. In 2010,&nbsp;<a href="https://www.fda.gov/drugs/postmarket-drug-safety-information-patients-and-providers/fda-drug-safety-communication-reduced-effectiveness-plavix-clopidogrel-patients-who-are-poor#:~:text=%5B03%2D12%2D2010%5D,full%20benefits%20of%20the%20drug." target="_blank" rel="noreferrer noopener">the FDA added black-box labeling to another anti-blood-clotting medication, Clopidogrel</a>, noting the importance of a person’s genetics in how a patient would metabolize the drug.&nbsp;Several states even&nbsp;<a href="https://www.genomeweb.com/diagnostics/lawsuit-hawaii-against-plavix-sponsors-alleges-burden-pharma-market-pgx-information#.ZEbC8-zML0p" target="_blank" rel="noreferrer noopener">sued</a>&nbsp;the manufacturer of Clopidogrel, citing that significant percentages of their populations did not respond to the medication.&nbsp;



Antidepressants and statins (cholesterol-lowering medications) taken by millions of people are also influenced by differences in genetics. Some of the warnings for dozens and dozens of<a href="https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling" target="_blank" rel="noreferrer noopener">&nbsp;commonly prescribed medications</a>&nbsp;note that genetics can play a role in whether a patient will or will not respond well to that drug, or even have an adverse reaction, but very few patients are ever tested prior to prescribing. A recent&nbsp;<a href="https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(22)01841-4/fulltext" target="_blank" rel="noreferrer noopener">study</a>&nbsp;showed that patients could experience 30%fewer serious adverse reactions if their medications were tailored to their genes. Despite overwhelming evidence that genetic testing is key to improving the way medication is prescribed, only in rare instances are patients tested first to see how they might respond to a medication before it is prescribed.



We have an incredible opportunity to leverage genetic testing and transform how we predict, prevent, and treat many diseases.&nbsp;<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629298/" target="_blank" rel="noreferrer noopener">Tens of millions of consumers have purchased and taken a DNA test</a>. Consumer demand is there. Doctors are also ready for this information. A&nbsp;<a href="https://www.23andme.com/dna-and-personalized-healthcare/" target="_blank" rel="noreferrer noopener">survey</a>&nbsp;we conducted along with Medscape found that two-thirds of doctors feel using genetic testing could lead to better outcomes for their patients and over 90% say genetics are an important part of a patient’s complete health picture.



As we celebrate the 20th anniversary of the sequencing of the human genome, it’s important for consumers, healthcare professionals, and healthcare industry leaders to recognize the potential we all have with the adoption and integration of genetic data into routine healthcare. Ushering in more personalized healthcare is within our reach today.

Anne Wojcicki

It’s time to fulfill its promise of personalized health care

This week we celebrate<a href="http://www.genome.gov/10506367"> National DNA Day</a>!



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="169" src="http://35.88.189.111/wp-content/uploads/2023/04/DNA_Day_20th_Anniversary_dyn-300x169.jpg" alt="" class="wp-image-31695" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/04/DNA_Day_20th_Anniversary_dyn-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/04/DNA_Day_20th_Anniversary_dyn.jpg 480w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



Every day at 23andMe is DNA Day really, but this day, in particular, is special because it marks the 20th anniversary of the mapping of the human genome. It also marks the 70th anniversary of the discovery of the double helix structure of DNA. So it’s a twofer anniversary.



There’s a lot planned this year. Along with some fun 23andMe will be having in Times Square in New York (check out our <a href="https://www.instagram.com/p/CrbRj7At2Dz/" target="_blank" rel="noreferrer noopener">Instagram</a> for the full schedule and to see some of the fun), 23andMe is also participating in a symposium sponsored by the National Human Genome Research Institute (NHGRI). There’s also a nifty map that the NHGRI put together listing other events in the US and around the world you can check out here.



The NHGRI symposium will feature a number of leading experts in the field of genetics, including Francis Collins, the former director of the NHGRI. Collins will deliver a talk on the history of genetic science and its future. Other speakers will include current NHGRI director, Eric Green, and Joyce Tung, Ph.D., Vice President of Research at 23andMe.



The symposium is free, open to the public, and will be held virtually on April 25, 2023. To register, please visit the NHGRI website. To attend the conference virtually, go here.



We hope you will join us in celebrating National DNA Day! This is an important opportunity to learn more about our genes and how they impact our health. It is also a chance to celebrate the progress that has been made in genetic research and to look forward to the future of this field.



Happy DNA Day everybody!

DNA Day 2023

This week, we released a new report powered by 23andMe research on depression that is available for 23andMe+ members.



<h2 class="wp-block-heading" id="h-about-the-report">About the report</h2>



Depression is an all-too-common mental health condition that affects millions of people worldwide. In the United States alone, it’s estimated that<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875313/"> one in five</a> people will be diagnosed with some form of depression in their lifetime.



23andMe’s new Depression Report is powered by data from people who have consented to participate in 23andMe research. The report uses machine learning techniques to estimate an individual’s likelihood of being diagnosed with depression.



The estimate uses a statistical model that includes thousands of genetic markers and information on an individual’s ethnicity and birth sex. You can learn more about the science and methodology behind our new report in this <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf">white paper</a>.



Note that 23andMe’s genetic health report on depression can provide users with helpful information on their estimated genetic likelihood of being diagnosed with the condition, but it is not a substitute for clinical diagnosis and treatment.



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">HELP IS THERE IF YOU NEED IT

If you or someone you know is in crisis, don’t ignore it, there is help. You can<a href="https://988lifeline.org/talk-to-someone-now/"> call or text 988</a> in the U.S. or<a href="https://findahelpline.com/"> find a helpline in your area.</a>

Here are some additional resources for you to find the help you or a friend or family member might need. Remember you are not alone, and there are people who can help you get the support you need. It’s OK to ask for assistance.

• 988 Suicide and Crisis Lifeline — formerly known as the National Suicide Prevention Lifeline, 988 provides free and confidential emotional support to people in suicidal crisis or emotional distress 24 hours a day, 7 days a week across the United States. The Lifeline is comprised of a national network of over 200 local crisis centers, combining custom local care and resources with national standards and best practices. They can provide support or connect you with local resources. Either call or text 988, or you can call 1-888-628-9454.

• Crisis Text Line — The Crisis Text Line is another free resource that&#8217;s available 24/7. If you&#8217;re not comfortable talking on the phone, you can text with a trained crisis counselor. To get started, text HOME to 741741.

• National Alliance on Mental Illness — The National Alliance on Mental Illness (NAMI) is an organization that provides education, support, and advocacy. Their helpline is available Monday through Friday, 10am to 8pm ET, at 1-800-950-NAMI (6264). They also have a wealth of <a href="https://nami.org/NAMI/media/NAMI-Media/Images/FactSheets/HelpLine-Resource-Directory.pdf">resources</a> on their <a href="https://nami.org/Home">website</a>, including information on depression and suicide.

• Therapy — Talking to a therapist can help if you’re struggling. An experienced therapist can help you navigate and find the best approaches to treating depression. Even if you don&#8217;t have insurance there are still options available, such as community mental health centers or sliding-scale therapy.

Remember, it&#8217;s okay to reach out for help. You don&#8217;t have to go through this alone. There are people who care about you and want to help you get through this.
</div>



<h2 class="wp-block-heading">What is depression?</h2>



Depression itself is not just about feeling sad or down. Those feelings are experienced by everyone. Depression is a more persistent and sometimes chronic condition that manifests itself in people differently.



There are several factors that contribute to whether someone develops depression. Genetics can play a role, but so do other factors. Some of those other factors include trauma or other life events, as well as environmental factors and/or chemical imbalances in the brain. Studies have shown that stress, poor diet, lack of exercise, and substance use can also contribute significantly to depression. In addition, other factors like discrimination due to race, sexual orientation, gender expression, and identity also play a role in depression, as does social isolation. 



Symptoms of depression often include feelings of sadness, hopelessness, and or worthlessness. These feelings might also be accompanied by a lack of interest in previously enjoyable activities, a lack of energy, or difficulty sleeping or concentrating. Some people with depression may also experience unexplained changes in appetite, aches, and pains, or issues with their digestive system. And in some cases, people with depression can have thoughts of harming themselves or suicide.



With the right resources and support, individuals dealing with depression can manage their symptoms and lead fulfilling lives.



<h2 class="wp-block-heading">Genetic factors</h2>



While it is but one of many factors that contribute to a person’s likelihood of developing depression, genetics can help explain how and why some people develop depression.



Depression is known to run in families, and it is also highly genetically correlated with<a href="https://www.23andme.com/topics/health-predispositions/anxiety-and-anxiety-disorders/"> anxiety</a>. Many people are diagnosed with both depression and anxiety. Depression is also<a href="https://www.nimh.nih.gov/health/publications/depression-in-women"> more common among females</a> than among males.†



Research studies — including work done by, and with, 23andMe scientists — have identified thousands of different genetic variants associated with depression. Some of these are in<a href="https://www.nature.com/articles/s41593-018-0326-7"> genes involved in neurotransmission</a> and response to stimuli in the central nervous system. A few other variants have been found in genes involved in a<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404304/#R1"> neural growth regulator</a> active in the hypothalamus. The hypothalamus is an area of the brain that’s been linked to depression in the past.&nbsp;



Together, these studies are helping scientists better understand how and why some people develop depression and others don’t. These insights may also help efforts to treat and prevent the disease.



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



23andMe+ members can click <a href="https://you.23andme.com/reports/prs.depression/">here</a> if they wish to view their report.



Current 23andMe Health + Ancestry Service customers on the current genotyping chip can receive this report and 35+ other reports by joining 23andMe+ from within their accounts. Learn more<a href="https://you.23andme.com/subscription/"> here</a>.



Not a 23andMe+ customer yet? Learn more about what 23andMe has to offer <a href="https://www.23andme.com/compare-dna-tests/">here</a>.



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



Within this blog post and the Depression Report, we use the word “male” to refer to people whose birth sex is male and “female” to refer to people whose birth sex is female. However, we recognize that being categorized by birth sex may be an uncomfortable experience for some people, and we do not mean to delegitimize anyone’s gender identity. Learn more about why we made this decision in this <a href="https://customercare.23andme.com/hc/en-us/articles/12279220169623">help article.</a>



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



<h2 class="wp-block-heading">Read More Posts on Depression Research</h2>



<ul class="wp-block-list">
<li><a href="https://blog.23andme.com/articles/affect-study">A First Glimpse of a New Cohort to Study Depression and Bipolar Disorder</a></li>



<li><a href="https://blog.23andme.com/articles/genetics-of-depression">Study Offers More Insights into the Genetics of Depression</a></li>



<li><a href="https://blog.23andme.com/articles/associations-for-depression">Study Finds New Genetic Associations for Depression</a></li>



<li><a href="https://blog.23andme.com/articles/depression-bipolar">Better Treatment and Care Needed for People with Depression</a></li>
</ul>



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

An image announcing the new 23andMe+ Depression Report

23andMe’s New Depression Report

This April, 23andMe is lending a hand to the <a href="https://www.berniemacfoundation.org/" target="_blank" rel="noreferrer noopener">Bernie Mac Foundation</a> to shine a light during Sarcoidosis Awareness Month on a condition that disproportionately impacts the Black community. 



The brilliant Chicago-based comedian Bernard J. McCullough, also known as &#8220;Bernie Mac,&#8221; lived with sarcoidosis for years and died from complications of the disease in 2008. But before his death, Bernie and his wife Rhonda started the foundation, and with his wife at the helm, the foundation lives on. It&#8217;s become a vital force in raising awareness about sarcoidosis, along with raising money for research that may lead to new treatments or a potential cure.&nbsp;



On April 22nd, the foundation will host its <a href="https://www.eventbrite.com/e/6th-annual-purple-carpet-fundraiser-tickets-579408816367">6th annual fundraising event</a> in Chicago — proceeds from this event will benefit the Bernie Mac STAR (Sarcoidosis Translational Advanced Research) clinic. 23andMe is a corporate sponsor of this event and will attend to lend our support.&nbsp; We will also be providing complimentary Health + Ancestry kits for attendees.



<h6 class="wp-block-heading">What is Sarcoidosis?</h6>



<a href="https://www.berniemacfoundation.org/sarcoidosis">Sarcoidosis</a>, pronounced SAR-COY-DOE-SIS, is a rare inflammatory disease that affects the Black community at double the rate of white individuals.&nbsp;



The condition leads to the clumping of inflammatory cells in different organs. While it primarily affects the lungs, it can affect any organs in the body. Symptoms include fatigue, swollen lymph nodes, or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may include shortness of breath, wheezing, a persistent cough, or chest pain. When it impacts the heart, the condition may result in irregular heartbeat, accelerated heartbeat, or heart swelling, known as edema. It can also affect the eyes resulting in blurred vision.



Currently, there is no cure and few approved treatments.



A study published in 2015 indicated that <a href="https://dx.doi.org/10.1378%2Fchest.14-1120" target="_blank" rel="noreferrer noopener">African Americans were twelve times more likely to die</a> from the condition than patients of other ethnicities. Unfortunately, just as with other conditions that disproportionately impact underrepresented communities, awareness about sarcoidosis and funding for research is sorely lacking. 



<h6 class="wp-block-heading">23andMe&#8217;s Representation in Sarcoidosis Research&nbsp;</h6>



In 2022, 23andMe <a href="https://blog.23andme.com/articles/sarcoidosis-representation" target="_blank" rel="noreferrer noopener">launched a study into the genetic underpinning of sarcoidosis</a>. 



Just as with most other rare diseases, sarcoidosis has a strong genetic component. But many genetic variants associated with the condition have yet to be identified. Though our recruitment effort is ongoing, we&#8217;re already gathering interesting insights from those currently participating. For instance, among those participating in our research, the most reported symptoms were <a href="https://blog.23andme.com/articles/a-check-in-on-23andmes-sarcoidosis-research-study" target="_blank" rel="noreferrer noopener">granulomas in the lungs or lymph nodes</a>. Granulomas are tiny nodules where immune cells clump together at an infection or inflammation site. 



23andMe&#8217;s work on sarcoidosis research is part of a broader effort to improve representation in genetic research, especially for diseases that are more prevalent in those with African ancestry.&nbsp;&nbsp;



<h6 class="wp-block-heading">A Commitment to Representation in Research</h6>



This is all part of a long standing commitment to address research disparities which we started back in 2011 when we launched our Roots into the Future.&nbsp;



Since then, we&#8217;ve had a steady cadence of projects, from the <a href="https://www.23andme.com/africa-project/" target="_blank" rel="noreferrer noopener">African Genetics Project</a> to the <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/" target="_blank" rel="noreferrer noopener">African American Sequencing Project</a> and the <a href="https://blog.23andme.com/23andme-research/global-genetics-project/" target="_blank" rel="noreferrer noopener">Global Genetics Project</a>. We&#8217;ve also begun work on <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait" target="_blank" rel="noreferrer noopener">sickle cell research</a> as well as a <a href="https://blog.23andme.com/articles/sickle-cell-awareness" target="_blank" rel="noreferrer noopener">sickle cell awareness program</a>.



Representation in research is important because, without it, the benefits from research fail to help all people. This further compounds health disparities.&nbsp;



To counter that 23andMe has done work within the Black community, connecting with groups like the Bernie Mac Foundation, in the case of sarcoidosis.&nbsp;



Many of the projects we&#8217;ve been doing over the last year, were only possible with all the effort we&#8217;ve made over the last decade to improve the diversity of our research participants. But, more importantly, customers of African descent who have consented to participate in 23andMe research have allowed us to study conditions important for the Black community. 



Beyond it being the right thing to do, improving representation also makes for good science. For example, research shows that <a href="https://www.nature.com/articles/s41586-019-1310-4" target="_blank" rel="noreferrer noopener">genetic studies that include diverse, multi-ethnic participants</a> have a higher chance of discovering important genetic variants associated with diseases. Those associations would have been missed in studies that focus only on one homogenous group. 



<h6 class="wp-block-heading" id="h-learn-more">Learn More</h6>



In doing this work, we also acknowledge the history of mistreatment of the Black community in research. This history has played a role in a hesitancy to participate in studies like this. All of our research is overseen by an external independent research review board. We also have internal reviews to ensure that we conduct our research in a way that does not perpetuate the unethical treatment of under-represented communities.



As with any study we conduct, we&#8217;ve also ensured that we respect participants&#8217; ethical rights, privacy, and humanity. We never share genetic or self-reported Information without participants&#8217; consent. To <a href="https://www.23andme.com/privacy/" target="_blank" rel="noreferrer noopener">learn more about privacy at 23andMe go here.</a>



 Learn more about 23andMe&#8217;s Representation in Sarcoidosis Research Study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a> and learn more about the Bernie Mac Foundation <a href="https://www.berniemacfoundation.org/" target="_blank" rel="noreferrer noopener">here</a>.

A logo for the 23andMe sarcoidosis research

Raising Awareness About Sarcoidosis

23andMe has joined forces with Morehouse School of Medicine and the <a href="https://www.sicklecellga.org/" target="_blank" rel="noreferrer noopener">Sickle Cell Foundation of Georgia</a> to launch a sickle cell carrier status awareness program.



It aims to improve access to sickle cell carrier status information and offer people clearer understanding of the differences between having sickle cell trait — being a carrier of sickle cell disease — versus having sickle cell disease.&nbsp;



<h6 class="wp-block-heading" id="h-the-sickle-cell-carrier-status-awareness-program">The Sickle Cell Carrier Status Awareness Program</h6>



As part of the program, 23andMe will offer its Health + Ancestry DNA testing kits at no cost to students, faculty, and staff at <a href="https://www.msm.edu/" target="_blank" rel="noreferrer noopener">Morehouse School of Medicine</a>. In addition to gaining information about their ancestry and health, participants will also gain access to the Sickle Cell Anemia Carrier Status report.* This service provides participants with information about their ancestry, health and more.  Participants will also be able to learn whether they are a carrier for sickle cell anemia. The report has information about what it means to be a carrier of the sickle cell anemia (also known as having sickle cell trait), and other resources. In addition, the program will also offer participants the opportunity to use counseling services from the Sickle Cell Foundation of Georgia.



“Our goal at 23andMe is to empower people through access to their genetic data, enabling consumers to make better, more informed decisions about their health,” said Joyce Tung, Vice President, Research at 23andMe.



23andMe is also working on sickle cell research, most recently in collaboration with scientists at the <a href="https://www.nih.gov/" target="_blank" rel="noreferrer noopener">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/" target="_blank" rel="noreferrer noopener">Johns Hopkins University School of Medicine</a>. The team also recently presented preliminary data from our work on what is now the largest and most diverse genetic study of sickle cell trait ever done.



“In addition to educating more people on certain genetic health risks, we believe this collaboration can contribute to more equitable research in, and product development for, groups of non-European ancestry,” Joyce said.



<h6 class="wp-block-heading">More about Sickle Cell Trait and Sickle Cell Disease</h6>



But a lot of work is needed to raise awareness more broadly about these conditions.



About one in 13 African Americans have the sickle cell trait, meaning that they have one copy of the HbS variant in the HBB gene. In other words, they are carriers of the sickle cell anemia and can pass that variant on to their children. Yet despite the prevalence of the sickle cell trait, many people, even carriers, do not fully understand what it means or how sickle cell disease is inherited.



The most commonly known form of sickle cell disease is sickle cell anemia. To have sickle cell anemia, a person must inherit two copies of the HbS variant — one from each biological parent. People with just one copy of the HbS variant are called carriers; they’re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" target="_blank" rel="noreferrer noopener">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. However, they could pass their variant on to their future children. If their partner has the HbS variant, there’s a 25 percent chance that each child may have sickle cell anemia.  



But there are other forms of sickle cell disease that are caused by other variants in the HBB gene. Instead of having two copies of the HbS variant like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and one copy of another variant in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease.



<h6 class="wp-block-heading">23andMe’s Sickle Cell Anemia Carrier Status Report</h6>



23andMe’s <a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/" target="_blank" rel="noreferrer noopener">Sickle Cell Anemia Carrier Status Report</a> looks at the HbS variant in the HBB gene.



The report can also tell individuals if they have two copies of the tested variant, and if they are at risk of developing symptoms of sickle cell anemia, but the report does not describe one’s overall risk of developing symptoms. It is most relevant for people of African descent, people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



23andMe’s Sickle Cell Anemia Carrier Status report tests for the HbS variant linked to sickle cell anemia, the most severe form of sickle cell disease. Three-hundred-million people worldwide and one in thirteen Black or African Americans in the United States have sickle cell trait, making them carriers for sickle cell anemia.&nbsp;



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



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting 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 or anything about the health of your fetus, or your newborn child’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. For important information and limitations regarding other genetic health risk reports and carrier status reports, click <a href="https://www.23andme.com/test-info/">here</a>.

Teaming Up to Raise Awareness About Sickle Cell

By Sarah Woods-Killam*



Claire Curtin and Roxana (Roxy) Wolosenko, two women who played a pivotal role in the success of <a href="https://en.wikipedia.org/wiki/The_Sims">The Sims game</a>, came to 23andMe as part of our Speaker Series for Women’s History Month.



Claire and Roxy shared with us some of the highlights of their careers, experiences, and challenges of working in the largely male-dominated gaming industry.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/04/Womens-History-scaled-e1681233526670-898x1024.jpeg" alt="A photo of Roxana (Roxy) Wolosenko, left, and Claire Curtin." class="wp-image-31568" width="449" height="512"/><figcaption class="wp-element-caption">Roxana (Roxy) Wolosenko, left, and Claire Curtin.</figcaption></figure>



<h6 class="wp-block-heading" id="h-changing-the-game-for-working-mothers-nbsp-nbsp-nbsp">Changing the game for working mothers&nbsp;&nbsp;&nbsp;</h6>



One of the first challenges was finding a balance between raising their children while meeting the demands at work, said Claire. This was especially true for two working moms, in a workplace dominated by men, but it’s what led Claire and Roxy to come up with the idea of job sharing.



“By the time we both had our first children, we went to our HR director at the time, who was a woman, to establish child care without losing our jobs,” said Claire. “We made arrangements to share projects and establish communication to make it seamless, taking turns coming into the office and then together once a week.”&nbsp;



The Sims project continued to be successful and operate smoothly, oftentimes having colleagues mistake them for one another.



For Roxy, the challenges started even before she landed the job. She was pregnant during her interview process, and because there were no laws regarding the discrimination of pregnant people, she worried about telling her interviewer that she was pregnant.



After telling him that she was going to have a child, he said:&nbsp;&nbsp;



“That’s okay, guys get into motorcycle accidents and women get pregnant.”&nbsp;



However, with Claire’s support, Roxy and Claire were able to negotiate maternity benefits and continued working together on The Sims project.&nbsp;



Job sharing during The Sims project, while pregnant and raising children, allowed Roxy and Claire a better work-life balance. But job sharing came with its own challenges, said Roxy. For one, there weren’t many good examples of job sharing to follow at that time. But both women said that working together allowed them to navigate and create a new work environment for working moms.&nbsp;&nbsp;



“My entire career would have been different if Roxy had not been there,” said Claire.&nbsp;



<h6 class="wp-block-heading" id="h-women-in-tech">Women in Tech</h6>



Roxy and Claire were the only women working on The Sims but they had an outsized impact.&nbsp;



“When we began working with each other there were 40 people in product development and out of those 40, we were the only two women,” Roxy said.&nbsp;



The Sims game was originally built for architecture, but they took it in a different direction when they started working on it. They helped make it gender neutral, which in turn ensured that both boys and girls Sims were welcome.&nbsp;



“The big nut to crack was, ‘How do you get girls to play games?’” Roxy said.&nbsp;



<h6 class="wp-block-heading" id="h-life-after-the-sims">Life after the Sims</h6>



After some time working on The Sims, Claire decided it was time for a change.&nbsp;



“I was 49 years old and realized I did not want to make entertainment anymore,” she said. “I asked myself, ‘How many more working years do I have?’”



Claire had other interests, and eventually became a consultant on energy efficiency. She said she was able to do that, in part, with the support of her husband. Her experience also led her to advise women to push for what they want. She tells women that they should speak up if there are any challenges in their career, or when there are individuals with whom you work who are particularly problematic.



Claire said, “The nasty people who are not easy to work with, those that try to wreck your career &#8211;&nbsp; you owe it to yourself to tell management since it is not fair to work. You can outlast someone like that.”



After leaving her work on The Sims, Roxy also decided it was time for a career change. Working in software, she was always staring at a screen and working inside. She said she realized that she found joy and therapy in working outside in the garden or with her hands.



“I needed to work on something where I used my hands, something that was organic and in the real world,” Roxy said.&nbsp;



She started her own landscaping business.&nbsp;



“I felt I was making a difference from one beautiful garden to another, helping people connect with nature,” she said.



<h6 class="wp-block-heading" id="h-words-of-wisdom">Words of Wisdom</h6>



What resonated the most with many of us here at 23andMe was Roxy’s advice toward the end of the talk.&nbsp;&nbsp;



“I think the important thing as a woman is to feel you are valuable,” she said. “The challenges that women have are legitimate (and) everyone needs to be involved in solving (them). There is no reason why women should be penalized for having children. The only way to do that is to not be apologetic about it and stand in your strength.”



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



Sarah Woods-Killam an Operations Specialist on 23andMe&#8217;s Customer Care, but she&#8217;s also an instrumental member of several of our Employee Resources Groups including &#8220;23andShe,&#8221; the group that supports women employees.

Latest Posts — Page 26