<figure class="wp-block-image alignwide size-large"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/IMG_6510-scaled-e1671646188429-1024x911.jpeg" alt="Brandon Moore photo" class="wp-image-30991"/></figure>



Out with the gluten, in with the gluten-free substitutes.



That’s the new motto for Brandon Moore, who was recently diagnosed with celiac disease.



<h6 class="wp-block-heading" id="h-unexplained-symptoms">Unexplained symptoms</h6>



Brandon never knew that all the pizza, pasta, and bread that sustained him were also making him ill.



He’d experienced chronic stomach problems for as long as he could remember, but no doctor or specialist could explain them. “I have done multiple tests looking for various issues like diverticulitis and stomach ulcers,” he said. “My doctors never found anything.”



Then he received a 23andMe Health + Ancestry kit as a gift from his step-grandmother. His <a href="https://blog.23andme.com/articles/new-23andme-report-celiac-disease">23andMe Celiac Disease Genetic Health Risk report*</a> indicated that he had a slightly increased risk of developing celiac disease.&nbsp;



He mentioned his results to his doctor during a routine physical, who ordered a follow-up test. The results confirmed he had the condition.



<h6 class="wp-block-heading" id="h-a-new-lifestyle">A new lifestyle</h6>



<a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac disease</a> is an autoimmune condition in which the consumption of gluten protein – found in wheat and other grains like barley and rye –&nbsp; can result in damage to the small intestine and cause digestive and non-digestive symptoms.&nbsp;&nbsp;



The only known treatment is a gluten-free diet. So, Brandon began reading labels and avoiding everything containing gluten.&nbsp;



Within weeks of going gluten-free, he felt better. His chronic stomach problems abated. And he even began to lose weight. “I feel physically and mentally healthier than I have ever felt in my life,” he said. “I lost 50 pounds; I don’t even get colds anymore!”



Brandon has adjusted to his new gluten-free lifestyle. “I don’t take a lot of risks. It’s just not worth it,” he said. “Even a minuscule amount of gluten will upset my stomach.”



He credits his success to his wife, who helps him research and prepare food: “I couldn’t do it without her. She is my rock.”



He also enjoys introducing his friends to the wide array of gluten-free products that are now available. “We’ll have friends over, and we’ll prepare them hamburgers on gluten-free buns, and honestly, they don’t even know the difference. Everything’s pretty good now!”



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*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. The Celiac Disease Genetic Health Risk report (i) is indicated for reporting of the rs2187668 variant in the HLA-DQA1 gene, which tags the HLA-DQ2.5 haplotype, and the rs7454108 variant near the HLA-DQB1 gene, which tags the HLA-DQ8 haplotype and (ii) describes if a person has variants associated with a higher risk of developing celiac disease. The variants included in this report are common in many ethnicities, but are best studied in people of European descent.

23andMe Blog

23andMe Blog Team

The Gift of Health, via a Gluten-Free Diet

Like all good Christmas stories, this one begins with a gift.



Kathy Clemenzi’s son gave her a 23andMe Health + Ancestry Kit for the holidays. He thought that Kathy, the self-appointed “family historian,” might enjoy using the kit to learn more about their ancestry and confirm some family stories passed down through the generations.



It was the perfect present.&nbsp;



“I’m always the one that looks into all the genealogy things and shares all the stories,” Kathy explained. “I even found out I’m 80 percent British and Irish – more than I expected!”



<h6 class="wp-block-heading" id="h-a-medical-mystery">A medical mystery</h6>



Diving into her family history provided a welcome distraction during a dark period in Kathy’s life. For two years, her older brother had been suffering from an unknown illness that was slowly robbing him of his ability to travel and play golf, something he loved. It left him weak and dizzy. Even the simplest movements, like walking or climbing stairs, became difficult.



<figure class="wp-block-image aligncenter is-resized"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/image0-768x1024.jpeg" alt="" class="wp-image-30937" width="509" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-768x1024.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-660x880.jpeg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-885x1180.jpeg 885w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0.jpeg 1536w" sizes="(max-width: 768px) 100vw, 768px" /></figure>



Desperation drove him from one specialist to the next — an ear, nose, and throat physician, a cardiologist, a neurosurgeon, a pulmonologist, and finally, a neurologist. But no one could identify the cause of his decline. His doctors were stumped.



“He was disintegrating,” Kathy recalled. “And no one could figure out why.”



<h6 class="wp-block-heading" id="h-a-promising-clue">A promising clue</h6>



Then a life-changing alert appeared on Kathy’s phone.



“One day, I got a message on my phone from 23andMe about a new genetic health risk report,” she said.



She logged in and clicked on her Hereditary Amyloidosis (TTR-Related) Genetic Health Risk report* and saw that she had a variant that increased her risk of developing the condition.



“I didn’t think much of [my reports] at first,” Kathy said. But she decided to share the report with her brother, who then shared it with his neurologist at the University of Massachusetts in Worcester.



As the neurologist combed through the 23andMe reports, her eyes lit up. “I think this might be what you have,” the neurologist told him. “You need to see a geneticist.”



<h6 class="wp-block-heading" id="h-finally-a-breakthrough">Finally, a breakthrough</h6>



Genetic testing confirmed the neurologist’s hunch: Kathy’s brother had<a href="https://www.23andme.com/topics/health-predispositions/hereditary-amyloidosis/">&nbsp;TTR-related hereditary amyloidosis</a>.



TTR-related hereditary amyloidosis is a rare genetic condition caused by the build-up of a protein called transthyretin (TTR) in the body’s tissues and organs. This protein build-up, called amyloidosis, can damage the nerves, the heart, and other parts of the body.Symptoms vary widely and depend on how much–and where–the build-up of protein occurs. Because the condition can manifest in so many ways,<a href="https://www.ncbi.nlm.nih.gov/books/NBK1194/">&nbsp;misdiagnosis</a>&nbsp;is common.



<h6 class="wp-block-heading" id="h-slow-improvement">Slow improvement</h6>



A doctor referred Kathy’s brother to the Boston Amyloidosis Center, where he now receives an intravenous infusion of medication every three weeks to manage his symptoms.



“Right now there’s no cure, but he’s gained back 40 percent of his movement,” Kathy reported. Simply walking up steps or getting in and out of the car independently and other small milestones are cause for celebration.&nbsp;



“He’s getting better a little bit at a time. It’s no longer a death sentence,” she said.&nbsp;



Kathy and the rest of her siblings underwent clinical genetic testing for TTR-related hereditary amyloidosis. Her younger sister also learned that she has the same variant, which puts her at increased risk of developing the condition.&nbsp;



Though symptom-free, they travel to Boston regularly for testing and checkups. “We’re famous [at the Amyloidosis Center],” Kathy joked. “When we go, they know exactly who we are–we’re the ones with the 23andMe history!”



<h6 class="wp-block-heading" id="h-writing-a-new-chapter">Writing a new chapter</h6>



Faced with these unexpected and challenging findings, Kathy and her siblings chose to write a new chapter in their family story. And they’ll share it with anyone who will listen.&nbsp;&nbsp;



“Love of family and curiosity started this journey,” Kathy explained. “If someone else hears this story and it saves another family–why not tell it?”



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*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. &nbsp;The TTR-related hereditary amyloidosis genetic health risk report is indicated for reporting of V122I, V30M, and T60A variants in the TTR gene and describes if a person has variants associated with an increased risk of developing TTR-related hereditary amyloidosis.&nbsp; The majority of the variants included in this report have been most studied in people of African Americans, West African, Portuguese, Northern Swedish, Japanese, Irish, and British descent.

A Sister’s Gift

A genome-wide association study of almost 3.4 million people with diverse ancestries has identified 3,823 genetic variants linked to alcohol and tobacco use.



Published in<a href="https://www.nature.com/articles/s41586-022-05477-4"> Nature</a>, the research was led by a team from the University of Minnesota, Minneapolis, and Pennsylvania State College of Medicine and collaborators from industry and other academic institutions.



The study incorporated the genetic data of almost 3.4 million people with African, American, East Asian, and European Ancestry. Participants were from 60 different cohorts across the globe, including consented research participants from 23andMe.



This is the first study of its kind to include such a diverse population. It updates <a href="https://www.nature.com/articles/s41588-018-0307-5">work </a>done by the same team in 2019 that primarily relied on data from people of European Ancestry.&nbsp;



<h6 class="wp-block-heading" id="h-genetic-architecture-of-substance-use">Genetic architecture of substance use</h6>



Smoking and drinking are leading causes of mortality worldwide and are risk factors for many chronic conditions and psychiatric disorders. Though both behaviors can be influenced by environment and culture, evidence suggests genetics plays a role, too.



The researchers identified 3,823 genetic variants from more than 2,000 genomic regions linked with smoking or drinking traits. More than 2,400 were associated with the likelihood of ever smoking regularly, 243 with the number of cigarettes smoked per day, and 849 with the number of alcoholic drinks consumed per week.



When they compared these genetic variants across the different ancestries, they found striking similarities, indicating that “the genetic architecture underlying substance use is not markedly different across ancestries.”&nbsp;



However, they also noted that polygenic risk scores (DNA-based tools that enhance the ability to predict the risk of certain diseases) developed from people of European Ancestry couldn’t accurately predict alcohol and tobacco use in people of other ancestries.



<h6 class="wp-block-heading" id="h-diversity-is-key">Diversity is key</h6>



Beyond furthering the understanding of substance use and related behaviors, this work also shows how diverse population samples can increase the scope and power of genetic research.



Working with an expanded database allowed the researchers to pinpoint more genetic variants that are strongly linked to alcohol and tobacco use. And by including population samples from a wide variety of ancestry groups, these gene variants were able to be found more quickly.



“Our results highlight that inclusion of individuals of diverse genetic ancestries allows for a better understanding of the genetic architecture of substance use by increasing power to detect variants associated with these behaviors and by improving the generalizability of our findings,” said <a href="https://experts.umn.edu/en/persons/gretchen-r-saunders">Gretchen Saunders</a>, a psychologist at the University of Minnesota, Minneapolis, and a co-author of the paper.&nbsp;



“As we continue to expand [upon this research], we hope to further include individuals who better represent overall global diversity which would allow for the creation of more equitable genetic risk scores, for example.”



You can read the full paper <a href="https://www.nature.com/articles/s41586-022-05477-4">here</a>.

Genetic Associations with Smoking and Drinking

Scientists from 23andMe’s <a href="https://www.23andme.com/therapeutics/">Therapeutics</a> organization recently presented details on the study design of the company’s ongoing Phase 1 clinical trial for a potential new cancer treatment, an&nbsp; <a href="https://blog.23andme.com/articles/an-update-on-23andmes-clinical-trial-for-23me-00610-in-patients" target="_blank" rel="noreferrer noopener">immunotherapy antibody called 23ME-00610</a>. 



The details on the types of cancers to be included in an expansion phase of the company’s clinical trial were presented this month at the annual meeting of the Society for Immunotherapy of Cancer (SITC) in Boston.&nbsp;



The Phase 1 clinical trial is designed to assess the safety and blood levels of 23ME-00610 in patients with advanced solid tumors whose cancer has come back or continued to spread after having taken all available treatments. 



23ME-00610 is an antibody that targets a receptor called CD200R1 expressed on T-cells and myeloid cells, and may restore those cells’ ability to kill cancer cells in patients.&nbsp;



<h6 class="wp-block-heading" id="h-trials-in-progress">Trials in Progress</h6>



The details presented at SITC were in a “Trials-in-Progress” poster, and included the specific types of tumors that will be studied in this trial. Patients with certain kinds of cancer will be enrolled into the clinical trial in the coming months. 



23andMe is looking to enroll patients with clear cell renal cell carcinoma; epithelial ovarian, fallopian tube or primary peritoneal carcinoma; neuroendocrine cancers including small cell lung cancer; and microsatellite instability-high (MSI-H) or tumor mutational burden-high (TMB-H) cancers that have progressed on standard therapies.&nbsp;



<h6 class="wp-block-heading" id="h-a-phase-i-clinical-trial">A Phase I Clinical Trial</h6>



A Phase 1 clinical trial is meant to assess safety and identify a dose level and dosing frequency for newly developed drug candidates. 



Typically a Phase 1 clinical trial includes a small group of patients who receive the investigational drug. Following close safety monitoring and analysis of drug levels in patients, if the compound is deemed to be well-tolerated, a higher dose of the drug is administered, either within the same group or a separate group of patients. When an appropriate dose level and dosing frequency has been identified, additional patients are typically enrolled to better assess that dose level. 



The plan for this Phase 1 study is to enroll about 100 patients. 23andMe plans to present the results of this clinical trial at an upcoming scientific conference.&nbsp;



<h6 class="wp-block-heading" id="h-the-power-of-big-data">The Power of Big Data</h6>



23andMe has more than 13 million genotyped customers, 80 percent of whom have consented to participate in research. Scientists are able to study the aggregate, de-identified genetics of these millions of participants. 



Pairing this data alongside more than 4 billion self-reported health data points, our scientists use sophisticated analyses to identify potential drug targets. 23andMe has one of the largest research platforms for therapeutic discovery. To date, the 23andMe Therapeutics division has initiated more than <a href="https://www.23andme.com/therapeutics/pipeline/">50 therapeutic program</a>s, including 23ME-00610.&nbsp;



&nbsp;“Our hypothesis, backed by published research, is that drug targets based on human genetics are at least twice as likely to become successful medicines than those with no underlying human genetic evidence,&#8221; said Dr. Jennifer Low, Head of Therapeutics Development at 23andMe. “We hope that 23ME-00610 will ultimately show clinical benefit to patients with a number of types of cancer.”

23andMe’s First Clinical Trial of New Cancer Treatment

This month, researchers from <a href="https://www.23andme.com/">23andMe</a>, the <a href="https://www.nih.gov/">National Institutes of Health</a> (NIH), and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a> presented preliminary data from what is now the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done.



<h6 class="wp-block-heading" id="h-link-to-pulmonary-emboli">Link to pulmonary emboli</h6>



The study included data from more than 3.7 million customers who consented to participate in research, including 18,000 with sickle cell trait.&nbsp;



The study found that having sickle cell trait — being a carrier for sickle cell anemia or having one copy of the HbS variant in the HBB gene — is associated with an increased risk for blood clots in the lungs, known as pulmonary emboli.



Someone who has sickle cell trait will not develop sickle cell anemia. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait.



While being a carrier does not put you at risk for sickle cell anemia and most individuals will not have any associated health complications, this study and others have shown that sickle cell trait is a risk factor for pulmonary emboli. This study revealed for the first time that this risk exists regardless of ancestry, which has implications for clinical guidelines for individuals who have sickle cell trait.



“We were able to validate the link for venous thromboembolism that smaller epidemiologic studies have shown in the past and identify that this link was predominantly for pulmonary emboli and not for deep vein thrombosis,” said <a href="https://www.hopkinsmedicine.org/profiles/details/rakhi-naik">Rakhi P. Naik</a>, MD, MHS, Clinical Director for the Division of Hematology at Johns Hopkins and a lead researcher on the study.&nbsp;



“These findings are particularly important because they suggest a unique mechanism of thrombosis in individuals with sickle cell trait,” Naik continued. “Clinicians should be aware of the increased risk of pulmonary embolism in sickle cell trait, especially in high-risk situations such as surgery.”



<h6 class="wp-block-heading" id="h-a-significant-study">A significant study</h6>



An abstract on the findings and more <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">detail on the study</a> was presented at <a href="https://www.hematology.org/">the American Society of Hematology</a>’s annual meeting.&nbsp;



“While the initial findings are interesting, the more significant aspect of this study is the size and diversity of the research cohort,” said <a href="https://www.genome.gov/staff/Vence-L-Bonham-Jr-JD">Vence Bonham</a>, JD, acting Deputy Director of the<a href="https://www.genome.gov/"> National Human Genome Research Institute</a> (NHGRI) of NIH, associate investigator in the NHGRI Intramural Research Program, and leader of the NHGRI Health Disparities Unit.&nbsp;



“This preliminary data represents just a first glimpse at the work from this collaboration,” said Bonham, adding that the study is significant because it is not just being conducted among individuals from one ethnic or ancestral background.



Study participants included nearly 200,000 individuals of African ancestry and ~550,000 people of Latine descent, in addition to ~3 million participants of European descent. &nbsp;Most previous studies have been performed solely in African ancestry cohorts, so this study is significant for including multiple population groups and for its sheer size.



The study&#8217;s associations are consistent across all studied ancestral groups, reinforcing that sickle cell trait and its associations are relevant for many carriers.&nbsp;



More than 100 million people worldwide have sickle cell trait, including one million to three million Americans. About eight-to-ten percent of African Americans are carriers, but sickle cell trait can also be found in people of any ethnicity. Sickle cell trait is more common in individuals with ancestors from Africa, Latin America, South Asia, the Mediterranean region of Europe, and Middle Eastern countries.



<h6 class="wp-block-heading" id="h-diversity-in-research">Diversity in research</h6>



For 23andMe, this is not only an opportunity to raise awareness about sickle cell, but also offers the potential to move the needle to increase the diversity of genomic studies.



“This study, the largest to date on sickle cell trait, demonstrates the contribution 23andMe can make to understudied areas of research,” said<a href="https://research.23andme.com/research/#drawer-manage"> Anjali Shastri</a>, PhD, a 23andMe Senior Program Manager for Research. “It underscores the importance of diversity in genomics research, and we believe studies like this should inform clinical care and policy in this space.”&nbsp;



<a href="https://www.linkedin.com/in/julie-granka-69156550">Julie Granka</a>, PhD, a 23andMe Principal Scientist and Statistical Geneticist who worked on the study with Statistical Geneticist <a href="https://research.23andme.com/research/#genomics-drawer">Keng-Han Lin</a>, PhD, believes the work shows the value of 23andMe’s research model. “Leveraging crowd-sourced data from our customers who have consented to participate in research has allowed us to quickly replicate prior findings, as well as make new discoveries uniquely powered by a large dataset,” said Granka.



This work would not have been possible without 23andMe customers with sickle cell trait who consented to participate in research. <a href="https://blog.23andme.com/articles/melinda-king">Melinda King</a>, Head of Diversity, Equity, and Inclusion at 23andMe, acknowledged their important contribution: “I am so grateful and impressed with our 23andMe customers&#8217; willingness to participate in this research. We know that many of them are from communities that suffered unethical treatment from past medical research projects. Despite that history, they trust us to do this important work and know that it is necessary for the greater good of their communities.”



<h6 class="wp-block-heading" id="h-raising-awareness">Raising awareness</h6>



Independent of this collaboration, 23andMe has undertaken other projects to raise awareness and improve our understanding of sickle cell.&nbsp;



Most recently we have worked with the <a href="https://www.btsscycle.org/">Breaking the SSickle Cell Cycle Foundation</a> on <a href="https://blog.23andme.com/health-traits/sickle-cell-awareness/">an awareness campaign</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease.



Many people don’t fully understand what it means to have sickle cell trait. Bonham and Naik hope that this study and others will help raise awareness about sickle cell in general.



Access the abstract <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">here</a>.

New Research on Sickle Cell Trait

23andMe is a gift as unique as those who receive it. It offers insights that are personal and often profound.



Throughout this holiday season, we’re highlighting a few people who shared&nbsp; how the gift of 23andMe changed their lives.



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For Christmas a few years back Jarrod and Ginger Lyle gifted each other 23andMe Health + Ancestry kits.



<h6 class="wp-block-heading" id="h-a-lifesaving-gift">A lifesaving Gift</h6>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="728" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/12/Jarrod-Ginger-728x1024.jpeg" alt="" class="wp-image-30889" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-728x1024.jpeg 728w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-213x300.jpeg 213w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-768x1080.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-626x880.jpeg 626w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-839x1180.jpeg 839w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger.jpeg 1213w" sizes="auto, (max-width: 728px) 100vw, 728px" /><figcaption class="wp-element-caption">Jarrod &amp; Ginger</figcaption></figure>



They were both just curious about what they might learn. Ginger, a nurse, was particularly interested in exploring her health reports.



“I thought it would be interesting to see if we had anything genetic pop up that could be helpful in our future or for our three children,” Ginger said.



But neither Ginger nor Jarrod expected that their Christmas gift might have saved his life.



<h6 class="wp-block-heading" id="h-mutyh">MUTYH</h6>



Jarrod’s 23andMe reports indicated he had two variants for what is called <a href="https://www.23andme.com/topics/health-predispositions/mutyh-associated-polyposis/">MUTYH-associated polyposis.</a>* It&#8217;s an inherited condition that increases the risk for colorectal cancer. Neither of Jarrod nor Ginger had heard of it before. Being a nurse Ginger did some research. She also asked her coworkers about the condition, which is known by its acronym MAP. 



The couple quickly realized it wasn’t something that they should ignore, especially considering that Jarrod’s family had a history of colon cancer. So he followed up with his doctor.



“I just turned 43, I still had a few years to go [before regular screenings] but I thought we should go get it checked out,” Jarrod said.



<h6 class="wp-block-heading" id="h-a-healthy-future">A healthy future</h6>



The pandemic and some issues with their insurance delayed Jarrod getting in to see a specialist. But eventually he went through a series of colonoscopies where doctors found dozens of polyps that were removed, only to find more six months later. 



Each time the doctors said the polyps were benign. However, given his family’s history of colon cancer, and his genetic health risk, he decided to meet with a geneticist. Additional scans found more polyps. He discussed his options with his doctors. Jarrod decided to have his colon and rectum removed to reduce his risk for cancer.



Jarrod’s doctor believes that if he waited until he was 50 for a routine colonoscopy Jarrod would have had progressive cancer. Ginger said 23andMe turned out to be a much bigger gift than she’d ever expected.



“This test has saved my husband’s future, with myself and our children,” she said. “So thankful this was found, and my 43-year-old husband can hopefully have a healthy and long future!’



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*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, including the 23andMe PGS Genetic Health Risk Report for MUTYH-Associated Polyposis. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person’s overall risk of developing any type of cancer. It 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 treatments. Warnings &amp; Limitations: The 23andMe PGS Genetic Health Risk Report for MUTYH-Associated Polyposis is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer.&nbsp; The two variants included in

A Gift of Health

23andMe is a gift as unique as those who receive it. It offers insights that are personal and often profound.



Throughout this holiday season, we’re highlighting a few people who shared&nbsp; how the gift of 23andMe changed their lives.



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For Christmas one year, Josh King received a 23andMe Health + Ancestry kit. Josh assumed his results would tell him a bit about his genealogy.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/Josh-King-tw.jpg" alt="" class="wp-image-30886" width="300" height="272" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/Josh-King-tw.jpg 600w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Josh-King-tw-300x272.jpg 300w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Josh King</figcaption></figure>



“But I had no idea it would be pivotal to my personal health,” he said.



<h6 class="wp-block-heading" id="h-hereditary-hemochromatosis">Hereditary hemochromatosis</h6>



After returning his sample to the lab and waiting a few weeks, he received an email that his reports were ready. Josh was surprised to learn he had two genetic variants that made him much more likely to develop something called hereditary hemochromatosis.* 



Hemochromatosis is a genetic condition that can lead to iron overload. That can in turn cause damage to the joints, liver, pancreas, or heart, among other things. 



It’s a genetic condition that can lead to iron overload, which in turn can cause damage to the joints, liver, pancreas, or heart, among other things. It’s most common in people of Northern European ancestry, and symptoms are usually diagnosed in males between the ages of 40 and 60. Josh was in his early 30s at the time.



<h6 class="wp-block-heading" id="h-a-visit-to-the-doctor">A visit to the doctor</h6>



Accordingly, he went to see his doctor, shared with him his report. Confirmatory testing from his doctor showed that Josh indeed had iron overload. His doctor told him he had never diagnosed the condition in someone as young as Josh. Fortunately treatment is relatively straightforward, regular blood draws and reducing alcohol and iron-rich food in your diet.



“I have spoken with many people who are hesitant about genetic health data &#8211; they&#8217;re not sure they would want to know any negative news,” Josh said. “I gently suggest they get over it. Data is your friend. These genetic markers are not the indelible hand of fate. You might learn something that you can easily manage now and add years, or decades, to your life.”&nbsp;



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 *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.The Hereditary Hemochromatosis (HFE?Related) genetic health risk report is indicated for reporting of the C282Y and H63D variants in the HFE gene and describes if a person has variants associated with an increased risk of developing iron overload related to hereditary hemochromatosis.&nbsp; The variants included in this report are best studied in people of European descent.

A Gift of Knowing

An Australian actor’s <a href="https://www.vanityfair.com/hollywood/2022/11/chris-hemsworth-exclusive-interview-alzheimers-limitless">recent announcement </a>that he has two copies of the APOE4 variant – which is linked to an increased risk of developing<a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/"> late-onset Alzheimer’s disease</a> – has been making headlines all over the world.



There are actually two types of Alzheimer’s disease: late-onset and early-onset. Late-onset Alzheimer’s is the most common, with symptoms of memory loss, cognitive decline, and personality changes beginning after the age of 65.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="435" height="310" src="http://35.88.189.111/wp-content/uploads/2008/11/alzheimers.jpg" alt="" class="wp-image-1902" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers.jpg 435w, https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers-300x214.jpg 300w" sizes="auto, (max-width: 435px) 100vw, 435px" /></figure>



In the United States alone, about<a href="https://www.alz.org/media/Documents/alzheimers-facts-and-figures.pdf"> 6.5 million people</a> age 65 and older are living with late-onset Alzheimer’s. And that figure is expected to almost <a href="https://www.alz.org/media/documents/alzheimers-facts-and-figures.pdf">double</a> by 2050.



<h6 class="wp-block-heading" id="h-understanding-alzheimer-s">Understanding Alzheimer’s</h6>



Late-onset Alzheimer’s is progressive, which means it develops over time. Early stages may result in mild cognitive impairments beyond what would be expected as a natural result of aging.



According to the CDC, <a href="https://www.cdc.gov/aging/healthybrain/ten-warning-signs.html">symptoms</a> of Alzheimer’s can include:



<ul class="wp-block-list">
<li>Memory loss that disrupts normal life.&nbsp;</li>



<li>Challenges in planning or solving problems.&nbsp;</li>



<li>Difficulty completing familiar tasks at home, at work, or at leisure.</li>



<li>Confusion with time or place.&nbsp;</li>



<li>Trouble understanding visual images and spatial relations.</li>



<li>New problems with words in speaking or writing.</li>



<li>Misplacing things and losing the ability to retrace steps.</li>



<li>Decreased or poor judgment.</li>



<li>Withdrawal from work or social activities.</li>



<li>Changes in mood and personality.</li>
</ul>



In later stages, as the disease becomes more severe, these symptoms may become more pronounced, and daily functioning can be severely impaired.



<h6 class="wp-block-heading" id="h-what-are-the-causes">What are the causes?</h6>



Late-onset Alzheimer’s disease is influenced by genetics, but genetics is only one component of why some people develop the condition.



Researchers believe that a combination of genetic, environmental, and lifestyle factors all play a role.



<h6 class="wp-block-heading" id="h-the-apoe4-connection">The APOE4 connection</h6>



The E4 variant in the APOE gene is the most common genetic variant associated with an increased risk of developing late-onset Alzheimer’s disease. Having one copy increases the risk by around threefold. Two copies of the APOE4 gene increase risk by around<a href="https://www.alz.org/media/Documents/alzheimers-facts-and-figures.pdf"> eight-to 12-fold</a>, although the impact of the E4 variant on risk may vary based on a person’s ethnicity.&nbsp;



The APOE gene is involved in making a protein called apolipoprotein E, which helps control the levels of cholesterol and fats in the blood. It is not known exactly how the E4 variant increases the risk of late-onset Alzheimer’s disease.&nbsp;



It’s important to note that having one or two copies of the E4 variant does not mean that you will necessarily develop late-onset Alzheimer’s disease. There are other genetic and non-genetic factors that also play a role, including age, family health history, sex, heart health, and ethnicity.



<h6 class="wp-block-heading" id="h-how-can-i-find-out-if-i-have-an-increased-genetic-risk">How can I find out if I have an increased genetic risk?</h6>



You can find out whether you may have an increased risk of developing late-onset Alzheimer’s disease based on your genetics with the 23andMe <a href="https://you.23andme.com/reports/ghr.alzheimers/">Late-Onset Alzheimer’s Disease Genetic Health Risk report</a>*, which looks for the E4 variant.&nbsp;



According to our data, APOE is among the most sought-after reports by consumers pursuing their own genetic testing. And research suggests there might be a benefit to knowing your genetic status. A study published in<a href="https://www.gimjournal.org/article/S1098-3600(21)02602-2/fulltext"> Genetics in Medicine</a> found that while some consumers experienced adverse short-term psychological reactions to receiving APOE results, nearly all experienced long-term benefits from receiving this information and making subsequent lifestyle changes.



<h6 class="wp-block-heading" id="h-how-can-i-reduce-my-risk-of-developing-alzheimer-s">How can I reduce my risk of developing Alzheimer’s?</h6>



While there is currently <a href="https://www.alz.org/media/Documents/alzheimers-facts-and-figures.pdf">no cure</a> for Alzheimer’s, there are six FDA-approved drugs on the market for those who have the condition. Most of these drugs are focused on easing symptoms.&nbsp;&nbsp;However, research suggests it’s possible to reduce your overall risk of developing the disease by making lifestyle changes. 



For example, several<a href="https://aaic.alz.org/releases_2019/AAIC19-Wed-release-NewResearch.asp"> 2019 studies</a> found that healthy lifestyle habits like exercise, healthy diet, abstaining from smoking, and cognitive stimulation were associated with a lower risk of developing the disease.



<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 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. &nbsp;The Late-Onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the E4 variant in the APOE gene and 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.&nbsp;

The APOE Gene and Alzheimer’s Risk

Not too long ago, 23andMe launched a <a href="https://www.23andme.com/sarcoidosis-representation/">new study of sarcoidosis</a>, specifically aimed at better understanding the underlying genetic and environmental factors that contribute to sarcoidosis in individuals with African ancestry.&nbsp;



Sarcoidosis (pronounced SAR-COY-DOE-SIS) is a rare inflammatory disease affects the Black community at double the rate of white individuals, and can affect any organ, but most often, it occurs in the lungs. A study published in 2015 indicated that African-Americans were <a href="https://dx.doi.org/10.1378%2Fchest.14-1120">twelve times more likely</a> to die from the condition than patients of other ethnicities.&nbsp;



Participants in our <a href="https://www.23andme.com/sarcoidosis-representation/">Representation in Sarcoidosis Research Study</a> have already begun sharing their own experiences with the disease. As people have consented to participate in our study, we are learning in real-time more about their earliest symptoms, the types of symptoms, and the treatments they’re using.



Our goal with this study is to gain new insight into the condition leading to potential new treatments or cures. That’s the hope as we work to recruit 2,000 individuals diagnosed with sarcoidosis with African ancestry.



<h6 class="wp-block-heading" id="h-new-data">New data</h6>



There is much we do not understand about sarcoidosis. It’s an insidious disease that can progress slowly without any obvious symptoms. It affects people of any age or ethnicity, but it’s usually diagnosed in adults between the ages of 30 and 40. It disproportionately affects people of African ancestry and is also more common in women.



<figure class="wp-block-image aligncenter size-medium"><img loading="lazy" decoding="async" width="300" height="234" src="http://35.88.189.111/wp-content/uploads/2022/11/Data-Screen-300x234.jpg" alt="" class="wp-image-30871" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen-300x234.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen.jpg 531w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



While we still have a long way to go in our efforts, we’re already learning more about the condition.&nbsp;



For example, among individuals participating in 23andMe’s study, we see that the most commonly reported symptoms were granulomas in the lungs or lymph nodes. Granulomas are tiny nodules where immune cells clump together at the site of an infection or inflammation. Almost 60 percent of those in the study reported granulomas on their lungs. About half said they had them on their lymph nodes. Other common symptoms of sarcoidosis are swollen lymph nodes, rashes, blurred vision, and joint pain or swelling.



23andMe’s early data shows a slightly higher prevalence among women participating in our study. It also shows a higher incidence among African Americans throughout our database. However, the latter may have more to do with our recruitment efforts.



<h6 class="wp-block-heading">Other symptoms</h6>



The data we have now is from both participants in the study and from customers who previously consented to participate in research. This preliminary data shows that lung scarring, also known as pulmonary fibrosis, is more prevalent among African Americans. The data we have so far also indicates that about a third (33 percent) of African Americans with sarcoidosis reported having lung scarring. This is compared to about 29 percent of all participants.&nbsp;&nbsp;



You can get sarcoidosis at any age. But the risk increases as you get older, especially after age 55. The average age of diagnosis among our study participants is 41, but four years younger among African Americans in the study.



Common symptoms for sarcoidosis are fatigue, pain, and swelling. When the condition affects the lungs, symptoms often include persistent coughs and shortness of breath. When it affects the heart, the symptoms often result in an irregular heartbeat or swelling of the heart, known as edema. There currently is no cure and few approved treatments.



We’re learning how our data parallels what we generally know about sarcoidosis&#8217;s earliest symptoms and progression. But we’re also interested in the potential of how this data might offer new insights into the condition. We’re encouraged by how those insights might push us closer to finding new treatments for the disease.



<h6 class="wp-block-heading">Rare disease research</h6>



This study is among a host of studies 23andMe has recently undertaken, looking specifically at rare diseases. Rare disease is defined as conditions that affect fewer than 200,000 people in the US. It is often difficult to find and recruit enough people with the condition, and this is especially the case among the underrepresented population.



<figure class="wp-block-image size-medium"><img loading="lazy" decoding="async" width="300" height="184" src="http://35.88.189.111/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg" alt="" class="wp-image-30872" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS.jpg 616w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



However 23andMe&#8217;s research model is uniquely suited to <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">studying rare diseases</a>. And in the months since launching the Representation in Sarcoidosis Research Study, we’re already seeing the power of our research model to quickly recruit individuals. This is in part because participation isn&#8217;t dependent on geography. People can participate in 23andMe research from home. 



Just as with most other rare diseases, there is a strong genetic component to sarcoidosis. But many genetic variants associated with the condition have not yet been identified.&nbsp;



Learn more about 23andMe’s sarcoidosis study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a>. Questions about the study? Contact us at sarcoidosis-representation@23andme.com.

A logo for the 23andMe sarcoidosis research

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