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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

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



Watch the Highlights: 



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



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



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



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



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



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



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



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



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



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



 #HealthHuddleLIVE #GeneticHealth #CommunityWellness

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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

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

Can You Upload DNA Data to 23andMe? 

<h5 class="wp-block-heading" id="h-fda-now-recommends-genetic-testing-before-prescribing-specific-chemotherapy-medications">FDA Now Recommends Genetic Testing Before Prescribing Specific Chemotherapy Medications</h5>



For years, patient advocates have been calling for stronger safeguards against preventable toxicity from chemotherapy. Last week, the FDA took a major step forward, updating the label for a drug called <a href="https://medlineplus.gov/druginfo/meds/a699003.html" target="_blank" rel="noreferrer noopener">capecitabine</a> to explicitly recommend testing for variants in the DPYD gene before starting treatment. This is more than just a label change—it&#8217;s a long-awaited acknowledgment that genetics matter when it comes to patient safety.



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



The <a href="https://medlineplus.gov/genetics/gene/dpyd/" target="_blank" rel="noreferrer noopener">DPYD gene</a> provides instructions for making an enzyme called DPD (dihydropyrimidine dehydrogenase), which helps the body break down certain chemotherapy drugs like capecitabine and <a href="https://medlineplus.gov/druginfo/meds/a682708.html" target="_blank" rel="noreferrer noopener">5-fluorouracil</a>. These medications are commonly used to treat breast, colorectal, and other cancers. People with certain changes in this gene may not process these drugs properly, causing the drugs to build up in the body and, in some cases, leading to severe or even life-threatening <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency/" target="_blank" rel="noreferrer noopener">reactions</a>.



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="508" height="531" src="http://35.88.189.111/wp-content/uploads/2025/10/drug-bottle.png" alt="" class="wp-image-34304" style="width:126px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/drug-bottle.png 508w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/drug-bottle-287x300.png 287w" sizes="auto, (max-width: 508px) 100vw, 508px" /></figure>



These reactions can include painful mouth sores, severe diarrhea, low white blood cell counts, and nerve problems. <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency/#frequency" target="_blank" rel="noreferrer noopener">Up to 8%</a> of people have a variant in the DPYD gene that affects how well they process these medications. Sadly, some patients with DPYD variants have died after receiving these drugs. Such experiences have fueled years of advocacy calling for genetic testing before treatment, not after. 



<h2 class="wp-block-heading" id="h-a-change-in-the-recommendations">A change in the recommendations</h2>



Until now, the FDA advised doctors they could &#8220;consider testing&#8221; patients before giving capecitabine or similar drugs. The <a href="https://www.accessdata.fda.gov/drugsatfda_docs/label/2025/020896s052lbl.pdf" target="_blank" rel="noreferrer noopener">new label</a> goes much further, adding a warning that says, &#8220;serious adverse reactions or death may occur in patients with complete DPD deficiency&#8221; and telling doctors to test for DPYD variants before prescribing the medication. (Experts predict a similar change to the 5-fluorouracil drug label soon.) It&#8217;s a major win for patient safety and for the <a href="https://test4dpd.org/" target="_blank" rel="noreferrer noopener">advocacy groups</a> who have pushed tirelessly for this change. Organizations that have long advocated for universal DPYD testing hope this update will encourage hospitals and cancer centers across the U.S. to make pretreatment genetic testing standard care.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="790" height="1024" src="http://35.88.189.111/wp-content/uploads/2020/09/PGt-Home-790x1024.png" alt="23andMe mobile pharmacogenomics" class="wp-image-28527" style="width:256px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home-790x1024.png 790w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home-231x300.png 231w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home-768x996.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home-679x880.png 679w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home-910x1180.png 910w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/09/PGt-Home.png 1583w" sizes="auto, (max-width: 790px) 100vw, 790px" /></figure>



We share the belief that genetic insights can empower individuals and help improve outcomes. The 23andMe® <a href="https://www.23andme.com/topics/pharmacogenetics/dpyd/" target="_blank" rel="noreferrer noopener">DPYD Drug Metabolism Pharmacogenetics report</a>*, available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members, provides information about two variants associated with reduced DPD enzyme activity. While this report isn&#8217;t a substitute for clinical testing, it can help people learn whether they carry certain DPYD variants and start a conversation with their healthcare provider. 



The FDA&#8217;s new label is an important step toward safer, more personalized cancer treatment and a long-awaited victory for the patients and advocates who made their voices heard.



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



 * 23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva for the purpose of reporting and interpreting information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic. Our CYP2C19 Pharmacogenetics report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Our SLCO1B1 Pharmacogenetics report provides certain information about variants associated with the processing of some therapeutics and provides interpretive drug information regarding the potential effect of simvastatin therapy. Our DPYD Pharmacogenetics report does not describe the association between detected variants and any specific therapeutic. Results for DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogenetic reports, visit <a href="http://23andme.com/test-info/pharmacogenetics/" target="_blank" rel="noreferrer noopener">23andme.com/test-info/pharmacogenetics/</a>

A Big Step Forward for Patient Safety

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

Every year on the third Saturday in October, the world celebrates International Archaeology Day, recognizing the important contributions archaeological research makes to society. This year, to celebrate, we&#8217;re spotlighting one of our favorite archaeological mysteries in the <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature—the skeletons of Roopkund Lake.



<h2 class="wp-block-heading" id="h-about-roopkund-lake">About Roopkund Lake</h2>



Roopkund Lake is a small glacial lake located over 5,000 meters (over 16,000 ft) above sea level in the Nanda Devi National Park, in the Indian Himalayas. In 1942, a forest ranger patrolling the park stumbled upon a chilling scene: hundreds of skeletal remains strewn around the lake. The site has captivated researchers and locals alike ever since.



The mystery of who these individuals were, how they died, and why they were in such a remote and inhospitable location has sparked decades of speculation. Some early researchers proposed that the remains belonged to an army that had lost its way in the mountains, while others suggested they might have been traders following a trans-Himalayan route that had since vanished. A few archaeologists posited that they were pilgrims traveling to nearby shrines, possibly part of the ancient Nanda Devi Raj Jat, a religious procession spanning ~290 kilometers (~180 miles) that is still undertaken in the region every 12 years.



The identification of women and children among the dead, however, made some of the proposed explanations less plausible–especially the claim that they may have been members of an army. Without weapons, trade goods, or written records, no single theory could fully account for the diversity and composition of the group. Local folklore offered its own interpretation: a king, his family, and attendants on a pilgrimage to honor the mountain goddess Nanda Devi had violated sacred protocol and were struck down by a deadly hailstorm in divine retribution.



<h2 class="wp-block-heading" id="h-an-exciting-23andme-connection">An exciting 23andMe connection</h2>



<a href="https://pubmed.ncbi.nlm.nih.gov/31431628/" target="_blank" rel="noreferrer noopener">In 2019</a>, scientists sequenced the genomes of 38 individuals from Roopkund Lake in an effort to better understand the origins of the mysterious remains. But instead of resolving this longstanding mystery, their findings uncovered an even more complex puzzle. 



So what makes this story one of 23andMe’s favorite archaeological mysteries? That 2019 research study was actually led by our very own Dr. Éadaoin Harney—a Scientist on the Population Genetics R&amp;D Team and 23andMe’s “resident ancient DNA expert.” She worked on this study during her PhD at Harvard University where she was a member of Prof. David Reich’s ancient DNA laboratories–one of the largest ancient DNA research laboratories in the world.



“When I first started working with the Roopkund ancient DNA data, I thought that genetics would be a simple and straightforward way to finally help solve the mystery of who they were,” said Dr. Harney. But she was in for a big surprise! “The first hint that this wasn’t going to be as simple as I initially thought was when we discovered how ancestrally diverse the Roopkund individuals were. Then we learned that they didn’t all die at the same time, as had previously been believed. Instead radiocarbon dates generated from the bones spanned over 1,000 years.”



<h2 class="wp-block-heading" id="h-how-dna-adds-to-the-mystery">How DNA adds to the mystery</h2>



The 2019 genetic analysis showed that the individuals fell into three distinct genetic groups, with ancestries from across the globe.



The largest group (which we’ll refer to as Roopkund A) consisted of 23 individuals who died between the 7th and 10th centuries CE, likely during multiple distinct events. Genetically, all appeared South Asian, but with remarkably diverse ancestries–each individual appeared most closely related to different present-day South Asian populations. This finding suggests that they may have traveled to the lake from multiple locations across the subcontinent. Although the exact purpose of their journey to Roopkund Lake remains uncertain, some researchers speculate that they may have been early participants in the Nanda Devi Raj Jat, a traditional pilgrimage that still passes by the lake every 12 years.



The other two groups were even more surprising. One group (Roopkund B) consisted of 14 individuals whose DNA connected them to present-day populations from the eastern Mediterranean—particularly populations in Greece and neighboring regions. The third group (Roopkund C) was represented by a single individual with genetic ancestry most similar to Southeast Asian populations. Radiocarbon dating revealed that these individuals likely died in a single event some time between the 17th and 20th centuries. Why people with ancestry from such distant regions were traveling together in one of the most remote parts of the Himalayas remains a mystery to this day.



Dr. Harney joined 23andMe in 2020 with the goal of creating an approach to identify direct genetic connections between historical and living people. She and her colleagues on the Population Genetics R&amp;D Team succeeded! This technology was first described in their <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10958645/" target="_blank" rel="noreferrer noopener">2023 study of African Americans from Catoctin Furnace</a>, which was published in (and featured on the cover of) Science. She then helped spearhead the creation of the 23andMe Historical Matches feature, enabling customers to learn how they connect to different historical and ancient individuals.



Over the last five years, one of her secret ambitions was to use this technology to try and finally solve the mystery of the Roopkund individuals&#8217; identities. Could identifying any close genetic relatives of the Roopkund individuals in the 23andMe genetic database help us learn about their identities and answer what brought them to Roopkund?



<h2 class="wp-block-heading" id="h-did-we-solve-the-mystery">Did we solve the mystery?</h2>



We compared the Roopkund individuals to over 11 million research consenting participants in the 23andMe genetic database. While we were hoping this analysis would reveal a number of close genetic relatives, unfortunately, the mystery of Roopkund Lake lives on.



We found that only about 1,240 research participants—less than 0.011% of the individuals included in our analysis—share any sort of genetic connection to the Roopkund individuals. And of those participants, we can count the number of individuals who share over 30 cM of DNA (what we label a “significant genetic connection” in the Historical Matches feature) on just one hand. In fact, we found so few &#8220;significant relatives” that the chances any of those connections trace back to a recent shared common ancestor on a genealogical family tree are extremely slim.



(Although if you happen to be one of those lucky individuals who sees a “significant connection” listed to one of the Roopkund individuals in your 23andMe report, please <a href="https://customercare.23andme.com/hc/en-us/requests/new" target="_blank" rel="noreferrer noopener">reach out to us</a>, as we’d love to learn more!)



<h2 class="wp-block-heading" id="h-what-else-did-we-discover">What else did we discover?</h2>



So, we didn’t solve the mystery of who the Roopkund individuals were, but we did gather fascinating data about their connections to the present day.



First, here is a breakdown of the 17 Roopkund individuals whose DNA was well preserved enough to include in our analyses:



<ul class="wp-block-list">
<li>8 from Roopkund A (South Asian ancestry)</li>



<li>8 from Roopkund B (Eastern Mediterranean ancestry)</li>



<li>1 from Roopkund C (Southeast Asian ancestry)</li>
</ul>



As we mentioned, about 1,240 23andMe research participants shared a genetic connection to the Roopkund individuals. The figure below shows the number of matches each Roopkund group received and highlights the amount of DNA shared. As you can see, the vast majority of the connections we discovered involve less than 20 cM of DNA, meaning that they likely trace back to a shared common ancestor who lived long before any of the Roopkund individuals.



<figure class="wp-block-image size-full is-resized"><img loading="lazy" decoding="async" width="411" height="252" src="http://35.88.189.111/wp-content/uploads/2025/10/image-3.png" alt="" class="wp-image-34359" style="width:625px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-3.png 411w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-3-300x184.png 300w" sizes="auto, (max-width: 411px) 100vw, 411px" /><figcaption class="wp-element-caption">This figure shows the distribution of total shared DNA that we detected between 23andMe research participants and each of the Roopkund groups (A, B and C). It shows that the vast majority of the connections we identified are to individuals in the Roopkund B group, and the DNA segments they share are shorter than 15 cM. In order to protect participant privacy, all counts less than or equal to 5 are masked and appear equal to 5. </figcaption></figure>



Of those who share a genetic connection, the majority (~1,160) shared a connection to one or more individuals in the Roopkund B group—the one with Eastern Mediterranean-related ancestry. This didn&#8217;t surprise us, since the majority of 23andMe research participants have European ancestry, making them more likely to be related to the Roopkund B individuals.



In addition to occurring more frequently, the Roopkund B individuals also shared some of the strongest genetic connections to 23andMe research participants, as shown in the figure below which depicts the maximum amount of DNA that each Roopkund individual shared with a research participant.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="643" height="448" src="http://35.88.189.111/wp-content/uploads/2025/10/image-4.png" alt="" class="wp-image-34360" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-4.png 643w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-4-300x209.png 300w" sizes="auto, (max-width: 643px) 100vw, 643px" /><figcaption class="wp-element-caption">This figure shows the maximum amount of shared DNA that we detected between 23andMe research participants and each of the Roopkund individuals. The individuals are arranged along the x-axis by when they lived, as measured by radiocarbon dating. We masked this result for Roopkund individuals who shared DNA with 5 or fewer 23andMe research participants in order to protect participant privacy, and reported maximum DNA sharing as equal to 0.</figcaption></figure>



We decided to see what Genetic Groups the Roopkund individuals could be connected to, using the same approach that we use to connect customers to these Genetic Groups.&nbsp;&nbsp;&nbsp;



Many of the Roopkund B individuals received matches to Genetic Groups in south eastern Europe, with the strongest connections to groups in Greece and Crete–exactly mirroring the findings of the original study!



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="849" src="http://35.88.189.111/wp-content/uploads/2025/10/roopkund_b_2-1024x849.png" alt="" class="wp-image-34352" style="width:575px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_b_2-1024x849.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_b_2-300x249.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_b_2-768x636.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_b_2-880x729.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_b_2-1180x978.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">This map shows the location of the different Genetic Groups that we compared the Roopkund B individuals to. Groups shown in darker colors shared the strongest genetic matches to one or more of the Roopkund B individuals.</figcaption></figure>



Since the Roopkund A and Roopkund C individuals shared far fewer genetic connections to 23andMe research participants, it was hard to localize their ancestry in the same way. But we were able to connect the Roopkund C individual to a single Genetic Group, located in China. This finding is generally consistent with the original study, where this individual exhibited connections to populations in East and Southeast Asia.&nbsp;



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="874" src="http://35.88.189.111/wp-content/uploads/2025/10/roopkund_c_2-1024x874.png" alt="" class="wp-image-34353" style="width:592px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_c_2-1024x874.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_c_2-300x256.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_c_2-768x655.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_c_2-880x751.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/roopkund_c_2-1180x1007.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">This map shows the location of the different Genetic Groups that we compared the Roopkund C individual to. Groups shown in darker colors shared the strongest genetic matches to the Roopkund C individual.</figcaption></figure>



We couldn’t connect the Roopkund A individuals to any of the Genetic Groups that we have identified. That doesn’t mean they aren’t genetically related to any of these groups. Instead it is likely just because the original research team was only able to sequence a small amount of DNA from these individuals, making it harder to connect them to research participants in the 23andMe database.&nbsp;



<h2 class="wp-block-heading" id="h-what-s-next">What’s Next?</h2>



So for now, all we can say is that the mystery of Roopkund Lake continues. But we promise this archaeological site is one that is close to our hearts. If we have any updates in the future, we’ll be sure to let you know.



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



Want to see if you share a genetic connection with any of the individuals who died at Roopkund Lake—or hundreds of other historical people? The Historical Matches feature is available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members.



And if you are interested in finding ways to celebrate International Archaeology Day, check out organizations like the Archaeological Institute of America, which has an exciting <a href="https://www.archaeological.org/events/category/international-archaeology-day/list/" target="_blank" rel="noreferrer noopener">calendar of Archaeology-related events</a>.

New Historical Matches Could Connect You to the Mysterious Skeletons of Roopkund Lake

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



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



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



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



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



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



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



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



presented by Julie Granka, Director, Statistical Genetics
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FRIDAY, OCTOBER 17TH 2:30 &#8211; 4:30 PM (Posters; Board #3014F) Learning about a genetic predisposition to depression is psychologically well tolerated among those with high polygenic risk scores



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

Late in the first quarter in only his third game this season, one professional football team’s star edge-rusher limped off the field, gesturing to his trainers with his thumb down. Apparently, he already knew what he&#8217;d find out a short time later with an MRI: he&#8217;d again torn his ACL, the anterior cruciate ligament.



While a hard tackle or awkward fall can tear an ACL, some people may be more prone to an ACL tear than others, and their genetics may explain why.



A new 23andMe polygenic risk score (PRS) report sheds light on that genetic connection. The report examines how a person&#8217;s genetics may impact their likelihood of experiencing an ACL tear, an injury particularly common among those involved in high-impact sports.



<h2 class="wp-block-heading" id="h-how-genetics-may-influence-acl-tear-risk">How Genetics May Influence ACL Tear Risk</h2>



First, it&#8217;s important to note that your genetics is only one part of the story – many other factors can influence the risk of an ACL tear. 



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="306" height="126" src="http://35.88.189.111/wp-content/uploads/2025/10/ACL-tear-PRS-Hero.png" alt="" class="wp-image-34316" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/ACL-tear-PRS-Hero.png 306w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/ACL-tear-PRS-Hero-300x124.png 300w" sizes="auto, (max-width: 306px) 100vw, 306px" /></figure>



Tears typically occur when the knee twists or extends beyond its normal range, often seen in sports that involve jumping and sudden stops, pivots, or changes in direction. That might be in sports such as football, soccer, basketball, or downhill skiing. The ACL is the most commonly injured ligament in the knee.&nbsp;&nbsp;



We also know that ACL tears are more common in female athletes. However, because more males participate in high-risk sports, the total number of ACL tears may actually be higher in males. They are also more likely in people with a family history of an ACL injury or a personal history of an ACL tear. Indeed, genetics plays an important role, with one 2020 sports medicine journal study estimating the <a href="https://bjsm.bmj.com/content/55/7/385" target="_blank" rel="noreferrer noopener">genetic contribution to an ACL tear at approximately 69 percent</a>. 



While the exact biological mechanism involved is not yet known, the genetic associations do offer some hints. Among the many genetic variants associated with ACL tears are variants in or near genes involved in the formation of collagen, a building block for ligaments. Scientists have discovered other variants linked to tears, but most of those associations are inconclusive, and more research is needed.&nbsp;



<h2 class="wp-block-heading" id="h-23andme-s-new-acl-tear-prs-report">23andMe&#8217;s New ACL Tear PRS Report</h2>



Knowing how genetics influences the risk for an ACL tear can empower athletes, who are at the highest risk, train smarter and work toward preventing them.&nbsp;



To create the new ACL Tear PRS Report* 23andMe scientists analyzed data from people who consented to participate in research to identify thousands of variants associated with ACL tears. The 23andMe scientists then created a genetic model that incorporated those variants to calculate the genetic likelihood of an ACL tear.



This PRS report, like other 23andMe PRS reports, is research-based and not validated for medical diagnostic use; it may have limitations for people with mixed or less-studied ancestries and does not account for every possible factor influencing ACL health. In addition, polygenic risk scores integrate many common variants, but they do not account for rare genetic variants or lifestyle factors that can heavily impact risk.&nbsp;



For individuals with an elevated genetic or family risk, creating a personalized prevention plan and scheduling regular check-ins with sports medicine professionals are great ways to keep knees healthy.&nbsp;



<h2 class="wp-block-heading" id="h-mitigating-the-risk-of-acl-tears">Mitigating the Risk of ACL Tears</h2>



Whether you’re a pro athlete or not, and especially if you’ve already had an ACL tear before, proper training and technique&nbsp; are simple ways to help lower the likelihood of injury.



Here are a few things you can do to help lower the risk of an ACL tear:



<ul class="wp-block-list">
<li>Build muscle strength in the hamstrings, and core to stabilize the knee.</li>



<li>Maintain proper technique for movements such as jumping, pivoting, and squatting — like landing on the balls of your feet with knees bent and keeping knees aligned over your toes.</li>



<li>Warm up and cool down before and after physical activity to increase flexibility.</li>



<li>Wear supportive, activity-appropriate footwear for correct alignment.</li>



<li>Consulting with physical therapists or trainers for form and strength assessments can further reduce the risk, regardless of one&#8217;s genetic background.</li>
</ul>



We continue to learn about the role genetics plays in sports-related injuries, including ACL tears, but genetics is just one factor.&nbsp;



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



<a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members can view this report with their other Wellness reports.



<a href="https://you.23andme.com/" target="_blank" rel="noreferrer noopener">Sign in</a> to learn more about what 23andMe&#8217;s ACL Tear PRS can tell you. 



* The 23andMe ACL Tear PRS report is based on a genetic model that includes data and insights from 23andMe consented research participants and incorporates more than 6,000 genetic variants to provide information on the likelihood of experiencing an ACL tear. The report does not describe a person’s overall likelihood, does not account for lifestyle or family history and has not been reviewed by the US Food and Drug Administration. The ACL Tear PRS report is not intended to tell you anything about your current state of health, or to be used to make medical decisions or determine any treatment.

Genetics May Explain Why Some Athletes Are More Prone to ACL Tears

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



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



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



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



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



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



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



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="508" height="531" src="http://35.88.189.111/wp-content/uploads/2025/10/drug-bottle.png" alt="" class="wp-image-34304" style="width:161px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/drug-bottle.png 508w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/drug-bottle-287x300.png 287w" sizes="auto, (max-width: 508px) 100vw, 508px" /></figure>



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



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



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



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



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



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



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="275" height="252" src="http://35.88.189.111/wp-content/uploads/2025/10/depression.png" alt="" class="wp-image-34307" style="width:184px;height:auto"/></figure>



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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This October, for Breast Cancer Awareness Month, we will be sharing some of the latest research on this important topic.
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What if the same genetic factors that put you at higher risk for developing cancer could potentially increase the chances you&#8217;d survive longer if you do get cancer? This counterintuitive possibility is exactly what researchers discovered in a groundbreaking collaboration between the 23andMe Research Institute and the Dana-Farber Cancer Institute.



<h2 class="wp-block-heading" id="h-understanding-cancer-risk-and-polygenic-scores">Understanding cancer risk and polygenic scores</h2>



Like most common diseases, cancer is multifactorial – it&#8217;s caused by a combination of genetic factors and non-genetic factors like environmental exposures and lifestyle. Polygenic risk scores are tools that can estimate an individual&#8217;s inherited genetic risk of developing many common conditions, such as cancers.&nbsp;



A <a href="https://pubmed.ncbi.nlm.nih.gov/40877800/" target="_blank" rel="noreferrer noopener">recent study</a> conducted at the Dana-Farber Cancer Institute investigated whether  polygenic risk scores may be associated not just with risk of disease, but with clinical outcomes. The study analyzed nearly 24,000 cancer patients to ask whether having a high <a href="https://blog.23andme.com/articles/three-new-prs-cancer-reports" target="_blank" rel="noreferrer noopener">polygenic risk score, predicting a high likelihood of cancer</a>, also could tell you anything about the prognosis for a person who does go on to develop cancer.



In collaboration with 23andMe, researchers looked at polygenic risk scores for more than 200 diseases to see if any could also predict the prognosis of six common cancer types: non-small cell lung cancer, colorectal cancer, breast carcinoma, glioma, ovarian cancer, and prostate cancer.&nbsp;



<h2 class="wp-block-heading" id="h-an-unexpected-finding">An unexpected finding</h2>



Surprisingly, they found that among breast cancer patients, those with high polygenic risk scores for breast cancer actually showed longer average survival times than those with low scores. This finding held up even when accounting for other factors like a patient&#8217;s age, treatment, or different kinds of tumors.



Why might this be the case?&nbsp;



Cancer-causing genetic changes come in two types: those you&#8217;re born with (germline mutations) that appear in every cell, and those that develop over time in specific tissues (somatic mutations) due to factors like smoking or aging. Polygenic risk scores measure only germline mutations.



The researcher&#8217;s results raise the possibility that tumors driven more by germline mutations — and corresponding high polygenic risk scores — may tend to be less aggressive compared to tumors that are more driven by somatic mutations.&nbsp;



<h2 class="wp-block-heading" id="h-what-comes-next">What comes next</h2>



While these results are statistically robust, they&#8217;ll need to be confirmed in other studies before changing how doctors might treat cancer patients. With additional investigation, these findings could eventually help doctors provide more personalized prognoses and potentially identify patients who might benefit from different treatment approaches based on their genetic risk profiles.

Study Reveals an Unexpected Link Between Genetic Cancer Risk Scores and Survival

This update is currently available to all eligible customers on the latest, V5, genotyping chip. 



The 23andMe Ancestry Team has been working hard on <a href="https://blog.23andme.com/articles/a-major-update-to-ancestry-composition-is-coming-soon" target="_blank" rel="noreferrer noopener">a major update to the Ancestry Composition report</a>, and results are now available! Our goal is to provide the most accurate and meaningful genetic ancestry results in the industry. We ground our models in rigorous science, guided by established population genetics research, to ensure your results are consistent, reliable, and can help guide your personal journey of discovery.



<h2 class="wp-block-heading" id="h-what-changes-you-ll-see">What changes you&#8217;ll see</h2>



<ul class="wp-block-list">
<li>New granularity in your ancestry percentages: 33 new populations in Europe and 6 in the Americas to explore. Plus we&#8217;ve updated our algorithm to eliminate “Broadly” and “Unassigned” categories in the default results view.&nbsp;</li>



<li>More accurate results: A new state-of-the-art DNA phasing pipeline reduces errors and gives a more accurate estimate of your percentages, even if your ancestry isn&#8217;t from Europe or the Americas.&nbsp;</li>



<li>New features: A new “Version History” section lets you compare your new results to your previous result, and <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members can also access all previous versions of their results at different confidence thresholds.</li>
</ul>



This update powers your Ancestry Composition, Ancestry Timeline, Parental Inheritance, DNA Painting, and more.



<h2 class="wp-block-heading" id="h-our-focus-for-this-update">Our focus for this update</h2>



For this update we focused on improving the entire Ancestry Composition pipeline integrating the latest research. Throughout the rounds of development we look at two major metrics: precision and recall. Precision lets us know how often we correctly predict that a piece of DNA is from a specific population. Recall tells us how much DNA from a specific population we can correctly identify. Working to maximize both precision and recall is critical to making Ancestry Composition and other ancestry features as accurate as possible.



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="366" height="368" src="http://35.88.189.111/wp-content/uploads/2025/09/AC78_wheel.png" alt="" class="wp-image-34276" style="width:170px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/AC78_wheel.png 366w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/AC78_wheel-298x300.png 298w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/AC78_wheel-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/AC78_wheel-271x271.png 271w" sizes="auto, (max-width: 366px) 100vw, 366px" /></figure>



The final models in this update had good precision and recall across the new populations, ensuring the accuracy of the ancestry breakdown predictions while also expanding the specificity and granularity of the populations. One example of the improvements gained by this update is the reduced amount of North Asian ancestry predicted for some Indigenous North American customers. You can learn more about the development process and see precision and recall metrics for each population in the <a href="https://www.23andme.com/ancestry-composition-guide/" target="_blank" rel="noreferrer noopener">Ancestry Composition Guide</a>.



While this update focused on increasing granularity in Europe and the Americas, customers from other parts of the world will still benefit thanks to the improvements to the science and the removal of broadly and unassigned ancestry.



<a href="https://you.23andme.com/" target="_blank" rel="noreferrer noopener">Sign in</a> and check out your new results.&nbsp;



Not yet a 23andMe member? Learn more about what <a href="https://www.23andme.com/compare-dna-tests/" target="_blank" rel="noreferrer noopener">23andMe has to offer</a>.



<h2 class="wp-block-heading" id="h-some-questions-you-might-be-wondering-about">Some questions you might be wondering about</h2>



Why are certain populations combined?



To define the 78 Ancestry Composition populations, we analyzed the reference datasets, chose candidate populations that appeared to cluster together, and then evaluated whether we can distinguish those groups in practice. Some populations tend to cluster on their own, but most country-level populations overlap to some degree. In these cases, we experiment with different groupings of country-level populations to find combinations that we can distinguish with high confidence. Check out the <a href="https://www.23andme.com/ancestry-composition-guide/" target="_blank" rel="noreferrer noopener">Ancestry Composition Guide</a> to learn more.



Does this mean that the people in those groups are the same? No. Each group has its own history, culture, and often different languages. These groupings are a reflection of our current genetic understanding and scientific methods, not a statement about cultural identity.



Does this mean DNA that is assigned to these populations is from all groups? Not necessarily. For example, DNA assigned to the Belarusian, Polish &amp; Ukrainian group might mean your ancestors were from one, two, or all three of those country-level populations. Sometimes other information from your DNA, such as your Genetic Groups, might help you identify more specific locations your ancestors may have come from.&nbsp;



Why are some reference panels smaller than before?



A reference panel, or a reference population or reference dataset, is a collection of DNA samples from people with some common connection. We compare your DNA to these reference panels to determine which ancestry most closely corresponds to your DNA. We often use 23andMe research participants who tell us they have four grandparents all born in the same country for reference panels.



However, sometimes when we look at the ancestry prediction for individuals in a reference panel for a specific population a few individuals don&#8217;t end up being predicted to have a reasonably large percentage of their DNA from that population. These individuals are considered outliers. As part of this update we systematically reviewed our reference panels around the world to remove these outliers. But don&#8217;t worry; even though some reference panels might be smaller, we still check that the models perform as well as (or better than) before for people with ancestry from these regions.&nbsp;



Why is there no Indigenous Caribbean population?



To define a new ancestry population we need reference panels made up of individuals who have deep genetic roots from one place. However, many individuals from the Caribbean are highly admixed (“admixture” refers to places where there was mixing of previously separate populations). This makes it incredibly difficult to identify a sufficient number of individuals with primarily indigenous DNA from the Caribbean. The reference panels for the new Indigenous American populations are almost entirely unadmixed, which is why we are able to provide ancestry percentages for these populations.&nbsp;



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="502" src="http://35.88.189.111/wp-content/uploads/2019/08/avg_ancestry_caribbean-1024x502.png" alt="" class="wp-image-27359" style="width:371px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/avg_ancestry_caribbean-1024x502.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/avg_ancestry_caribbean-300x147.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/avg_ancestry_caribbean-768x376.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/avg_ancestry_caribbean-880x431.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/avg_ancestry_caribbean-1180x578.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



So where does Indigenous Caribbean ancestry show up? We tend to see that Indigenous American ancestry in individuals from the Caribbean is spread among several of the new Indigenous American populations (especially North American, Southern Mesoamerican, Central Andean &amp; Amazonian, and Northern Andean).



Does this mean Indigenous Caribbean ancestors came from those places? Not necessarily. It simply means that of the options available today, those populations are the closest genetic match.&nbsp;



Why weren&#8217;t other parts of the world updated?



While we would love to be able to make major updates around the world more frequently, each new population requires new reference data and major updates in the prediction models. Throughout the years we have increased the number of populations across the rest of the world; however, we have not updated the populations in Europe since 2012. This update was an important opportunity to provide more detail in Europe and the Americas.



We will continue to work towards providing more specificity and granularity around the world in your ancestry percentages as well as Genetic Groups (keep an eye out over the next few months for new Genetic Groups in Africa), <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM, and other features.



Why did the colors change?



Adding 39 new colors to the color palette was quite the task for the 23andMe Design Team. The team took this opportunity to think about the colors holistically, coming up with a new system that provides a gradient across the world, allowing for nearby populations that are closer together geographically to be represented by more similar colors, while at the same time providing a system that can work for more populations in the future.



Who will get this update?



All customers genotyped on the current (V5) chip and with access to the ancestry service will see this update. A genotyping chip (or array) tests for a fixed set of genetic variants (SNPs) across the genome. Different chip versions (V1, V2, V3, V4, V5, etc.) test for different sets of SNPs. More recent chips often include better coverage for certain populations, recently discovered variants, or better genetic markers that help improve ancestry?composition algorithms or detect health?associated variants.



Ancestry Composition is trained on specific genotyping chip versions, and these latest models were only trained on the latest chip version. The models are incompatible with data from older genotyping chips, as older chips don’t include most of the genetic markers used by these new ancestry models. More recent chip versions are also designed with better coverage for diverse populations. If you&#8217;re on an older chip version (or not sure which chip version you have) learn about chip upgrades <a href="https://customercare.23andme.com/hc/en-us/articles/360025014494-How-Do-I-Upgrade-My-Genotyping-Chip" target="_blank" rel="noreferrer noopener">here</a>.



What happens if my family deleted data and I want to connect with them?



When you connect with a biological parent through Your Connections, we use the additional information we learn from your parents&#8217; DNA to improve the resolution of your Ancestry Composition results. You will also be able to see the proportions of each ancestry that you inherited from each parent in the Parental Inheritance section in your Ancestry Composition report. If a family member has deleted their account they will need to purchase a new kit and create a new account before you can connect with them.

It’s Finally Here: A New Version of Ancestry Composition

Obsessive-compulsive disorder (OCD) is a complex and often debilitating condition that affects up to three percent of people, but the biological basis of the disorder has remained largely elusive. While we’ve known that genetics play a role, previous genetic studies have been limited by their relatively small sample size and have only identified a few of the specific genetic variants involved.



But that is now changing.



<a href="https://pubmed.ncbi.nlm.nih.gov/40360802/" target="_blank" rel="noreferrer noopener">In a recent study</a>, the largest of its kind ever conducted for OCD, researchers identified dozens of genetic variants associated with the disorder, offering unprecedented insight into its underlying biology.



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



For complex conditions like OCD, genetic discovery is a numbers game. To find the subtle genetic variations that contribute to risk, scientists need to compare the DNA of vast numbers of people with and without the condition. This is where the research model of the 23andMe Research Institute makes a world of difference.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="600" height="600" src="http://35.88.189.111/wp-content/uploads/2017/05/your_dna_family.png" alt="" class="wp-image-25345" style="width:141px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family.png 600w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family-300x300.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family-271x271.png 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family-372x372.png 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/your_dna_family-574x574.png 574w" sizes="auto, (max-width: 600px) 100vw, 600px" /></figure>



This study combined data from 28 different cohorts. The result was a dataset of incredible scale, including 53,660 individuals with OCD and more than 2 million controls. Consented 23andMe research participants made up about half of the entire cohort in this study. This immense contribution, made possible by those who choose to participate in research, was critical to achieving the statistical power needed to make these new discoveries.



<h2 class="wp-block-heading" id="h-what-the-study-found">What the Study Found</h2>



By scanning the genomes of millions of individuals, the researchers identified 30 independent genetic variants that were significantly associated with OCD. Of these 30 genetic variants, half are entirely new discoveries, while the others confirm and strengthen findings from previous, smaller studies. Researchers mapped these genetic variants to 25 genes that are likely impacted by those variants.



<h3 class="wp-block-heading" id="h-zeroing-in-on-the-brain">Zeroing In on the Brain</h3>



Identifying the genes is just the first step. The next question is: where in the body do these genes do their work?



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="438" height="458" src="http://35.88.189.111/wp-content/uploads/2015/06/Brain-Logo.jpg" alt="Brain Logo" class="wp-image-22635" style="width:157px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo.jpg 438w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w" sizes="auto, (max-width: 438px) 100vw, 438px" /></figure>



To find out, the researchers performed tissue and single-cell enrichment analyses. The results were striking. The genetic signals for OCD were highly enriched in six different types of human brain tissue. In contrast, there was no enrichment found in tissues outside the brain.



The study drilled down even further, pinpointing specific cell types and found that these genes are at work in the same cells identified by neuroimaging and deep brain stimulation studies of OCD. By independently identifying these precise brain regions and cell types through genetics, this study provides additional supporting evidence that these genes and neurons play a direct role in the biology of OCD.



<h3 class="wp-block-heading" id="h-shared-genetics">Shared Genetics</h3>



The study also investigated the genetic relationship between OCD and other psychiatric and behavioral conditions. The researchers found statistically significant positive genetic correlations between OCD and a range of other disorders, including anxiety, depression, anorexia nervosa, and Tourette syndrome



This finding reinforces a growing body of evidence that many psychiatric conditions, while appearing different on the surface, are likely to share some underlying genetic susceptibility factors. Understanding this genetic overlap may be key to understanding mental health as a whole.



<h2 class="wp-block-heading" id="h-a-foundation-for-the-future">A Foundation for the Future</h2>



This study represents a pivotal moment for OCD research. By dramatically expanding the list of known genetic variants associated with OCD and grounding them in the specific biology of the brain, this work opens doors for researchers to explore the precise mechanisms by which these genes influence brain circuits and contribute to OCD symptoms.



Ultimately, these findings may be a critical step toward developing novel and more effective treatments for a disorder that has long been misunderstood.



And once again, we want to extend our deepest gratitude to 23andMe research participants. Your contribution to this landmark study has advanced our understanding of OCD and paved the way for a healthier future.

A Major Leap Forward in Understanding the Genetics of OCD

In the article <a href="https://www.nytimes.com/2017/01/11/magazine/neanderthals-were-people-too.html?_r=0">Neanderthals Were People Too</a>, Jon Mooallem describes an electric moment where he felt a visceral connection to our long lost human cousins.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25260" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg" alt="" width="212" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg 212w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-768x1084.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-725x1024.jpg 725w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-623x880.jpg 623w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-836x1180.jpg 836w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-scaled.jpg 1813w" sizes="auto, (max-width: 212px) 100vw, 212px" />
Watching a group of archeologist painstakingly excavate a small hearth in a cave in Gibraltar, Mooallen is suddenly struck by what he’s seeing. The bits of charcoal, the fire stained ground where embers are scattered and the smoke stained walls where the cinders from the fire had pushed up against the rock wall.


“Suddenly, it struck me — though it should have earlier — that what we were looking at were the remnants of a single event: a specific fire, on a specific night, made by specific Neanderthals. Maybe this won’t sound that profound, but it snapped that prehistoric abstraction into focus. This wasn’t just a “hearth,” I realized; it was a campfire.”


<h6>The Connection</h6>

He was looking at the remains of a fire that warmed these human cousins of ours on a night 50,000 years ago, and he felt connected.
Whether we feel it or not, most humans living today are connected to Neanderthals.
All non-Africans have between one and three percent Neanderthal DNA, a remnant of interbreeding as modern humans migrated out of Africa and met Neanderthals for the first time. And we likely carry remnants of other hominids in our DNA, such as the Denisovans.
Perhaps it’s that genetic connection that fuels our fascination with Neanderthal, or maybe it’s that what we learn is informing us all more about what it means to be human.
We know that we owe much to the Neanderthals. It’s likely that interbreeding with Neanderthals helped give humans an evolutionary advantage to adapt — beneficial immune response and blood clotting for instance — but it also left us with a subtle risk for certain diseases, according to <a href="http://www.sciencemag.org/news/2016/02/our-hidden-neandertal-dna-may-increase-risk-allergies-depression">research published early last year</a>.

<h6>The Neanderthal Advantage</h6>

Vanderbilt University&#8217;s John Anthony Capra, was the lead author of that study, which we previously wrote about in the <a href="https://blog.23andme.com/news/the-lasting-legacy-of-neanderthals/">blog</a>. Capra recently spoke with <a href="https://www.nytimes.com/2017/01/20/science/john-anthony-capra-neanderthals-dna-humans.html">The New York Times</a> about that research.
Over time humans <a href="https://blog.23andme.com/23andme-research/new-neanderthal-research/">purged</a> all but the last vestiges of Neanderthal DNA — but some of what remains, even some of what previously could have been beneficial, is deleterious, according to Capra.


“What we’ve been finding is that Neanderthal DNA has a subtle influence on risk for disease,” Capra said.


For the research, Capra and his team looked at electronic health records from 50,000 individuals and found associations with Neanderthal DNA and immune response, blood clotting, and depression.
These findings and others indicate that Neanderthals were much more like us than we previously thought.


“We tend to think of them as dumb and brutish,” Capra said. “There’s no reason to believe that. Maybe those of us of European heritage should be thinking, “Let’s improve their standing in the popular imagination. They’re our ancestors, too.’”

The Neanderthal Within

Scientists have unearthed a trove of bones in a South African cave belonging to a previously unidentified early human relative.
<div id="attachment_22837" style="width: 277px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22837" class="size-medium wp-image-22837" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/F1.large-1-267x300.jpg" alt="Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute" width="267" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/09/F1.large-1-267x300.jpg 267w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/09/F1.large-1-768x863.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/09/F1.large-1-911x1024.jpg 911w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/09/F1.large-1-783x880.jpg 783w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/09/F1.large-1-1050x1180.jpg 1050w" sizes="auto, (max-width: 267px) 100vw, 267px" />Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute</div>
<h2>Rising Star</h2>
Found in the “Rising Star Cave,” the new species has been dubbed homo naledi – naledi is the Sosetho word for star – and fills in more detail about the story of human evolution.
“We’ve found a new species that we are placing in the genus Homo, which is really quite remarkable,” <a href="https://twitter.com/LeeRberger">Lee Berger</a>, a paleoanthropologist, who led the research told the <a href="http://www.theguardian.com/science/2015/sep/10/new-species-of-ancient-human-discovered-claim-scientists">Guardian</a>.
There’s much to ponder with the new finding and some intriguing implications discussed at length in two <a href="http://elifesciences.org/content/4/e09560">new papers</a> about the bones as well as a new <a href="https://www.pbs.org/wgbh/nova/evolution/dawn-of-humanity.html">Nova</a> special. For one, the find adds more information in the big gap in the fossil record tracing back to the dawn of humanity. 
<h2>Homo Naledi</h2>
One of the papers also details where and how the bones were found and covers various theories about how they got there. The implication from that paper is that the bones – more than a 1,000 bones and bone fragments from at least 15 individuals – were possibly brought there for burial. If true this would suggest that homo naledi were advanced enough to actually have a ritual for burying their dead.
“If true it points to advance behavior,” <a href="http://bluelionphotos.blogspot.co.za/2015/09/the-rising-star-interviews.html">said John Hawkes</a>, and paleoanthropologist from the University of Wisconsin who is a co-author of the paper.
That would also point to such things as social bonds, and other kinds of communal structures.
The excavation and its implications are covered at length in the upcoming issue of <a href="http://news.nationalgeographic.com/2015/09/150910-human-evolution-change/">National Geographic</a>.
<h2>Ancient Human Relative</h2>
The team believes the bones &#8211; as yet undated &#8211; represent a new ancient human relative that adds another chapter in the human story.
The bones have some characteristics that are similar to both modern humans and other ancient human species that pre-date it. They were long-legged and slender with hands and feet similar to humans, but their brains were only about a third of the size of modern humans.
In the wonderful <a href="https://www.pbs.org/wgbh/nova/evolution/dawn-of-humanity.html">Nova</a> program, scientists say the find should more clearly change how we look at the human family tree, where there were likely many different species that branched out in different ways, some crossing back to contribute to what ultimately became modern humans, while others went extinct.

Hello Cousin

Consider the cow, and this humble herbivore’s contribution to the human story.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/dairy-cow-300x200.jpg" alt="dairy cow" class="alignright size-medium wp-image-22620" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/dairy-cow-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/dairy-cow-768x511.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/dairy-cow.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />


We’re not just talking burgers and ice cream, archeological evidence suggests that cows were likely first domesticated from aurochs (extinct wild oxen) as long as 11,000 years ago when farmers used their milk to <a href="https://www.npr.org/sections/thesalt/2012/12/27/168144785/an-evolutionary-whodunit-how-did-humans-develop-lactose-tolerance" target="_blank" rel="noopener noreferrer">make cheese</a> and yogurt.
Nutrient-rich with plenty of vitamin D for the sun-starved in Northern Europe, milk was a kind of superfood of the Bronze Age.
But <a href="https://www.nature.com/news/dna-data-explosion-lights-up-the-bronze-age-1.17723" target="_blank" rel="noopener noreferrer">new research</a> suggests that it took a long time before Europeans could actually benefit from this potent potable.
Looking at DNA samples from the remains for more than 100 individuals who lived in Eurasia from 3,000 to 5,000 years ago, researchers in Norway found that it took a surprisingly long time before Europeans could tolerate milk.
The study looked at much more than whether those early Europeans could tolerate dairy, and focused more broadly on a wide variety of physical and physiological traits including hair thickness, height and skin color.
But the DNA samples indicate that those early Europeans were mostly lactose intolerant, suggesting that even though they had domesticated cows at the time they were unable to digest raw milk as adults. The exception appears to be among the Yamnaya, a group of people who migrated into Northern Europe from an area near the Altai Mountains in what is now central Russia. Researchers speculate that natural selection favored this trait, giving those with it a rich source of nutrition that could sustained them during times of famine when harvests failed. 
 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/milk-287x300.jpg" alt="Glass of milk isolated on white. Vector illustration" class="alignright size-medium wp-image-22621" width="287" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/milk-287x300.jpg 287w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/milk-768x802.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/milk-980x1024.jpg 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/milk-843x880.jpg 843w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/milk-1130x1180.jpg 1130w" sizes="auto, (max-width: 287px) 100vw, 287px" />

<h5>
Intolerant, even today 
</h5>

Most people are actually lactose intolerant as adults. Only about <a href="https://www.sciencedirect.com/science/article/pii/S0958694611002536" target="_blank" rel="noopener noreferrer">35 percent of people worldwide</a> can digest lactose beyond the age of about seven or eight.
The numbers tell a deeper story when demographically divided. While the majority of people of European ancestry <a href="https://www.nature.com/news/archaeology-the-milk-revolution-1.13471" target="_blank" rel="noopener noreferrer">can tolerate milk</a> into adulthood, only a small minority of people of Asian ancestry can. Among 23andMe customers who consented to research only about 16 percent of those of European ancestry reported that they were <a href="https://www.23andme.com/topics/wellness/lactose-intolerance/">lactose intolerant</a> compared to about 85 percent of people of Asian ancestry.

<h5>
So what gives? 
</h5>

There are a number of <a href="https://www.npr.org/sections/thesalt/2012/12/27/168144785/an-evolutionary-whodunit-how-did-humans-develop-lactose-tolerance" target="_blank" rel="noopener noreferrer">theories</a> about why there are differences among people of different ancestry, and a recent study of ancient Northern European DNA suggests the ability to digest dairy is a relatively new phenomena.
Drinking milk is a problem for most adults. It contains high amounts of a sugar named lactose. As children, we all produce lactase, an enzyme that allows us to break up lactose in our mother&#8217;s milk. As we grow older lactase levels go down, making it harder for adults to breakdown the lactose sugars and causing gastrointestinal &#8220;discomfort.&#8221;
In populations with domesticated cattle, however, there may have been an evolutionary incentive to being able to drink milk as adults and several populations – including populations in Northern Europe – developed genetic variants that enabled adults to continue to breakdown lactose into adulthood. This genetic variant offered a likely evolutionary advantage because milk is nutrient rich, plentiful, and cleaner than many sources of water. In times of famine it offered an alternative source of food for those who could tolerate it.


In the book 10,000 Year Explosion: How Civilization Accelerated Human Evolution, anthropologists Gregory Cochran and Henry Harpending called humans with this variant “<a href="https://westhunt.wordpress.com/2012/10/23/mampires/" target="_blank" rel="noopener noreferrer">mampires</a>,” because it allowed people to feed on the milk of other animals. It’s a clever term, but maybe with a little darker connotations than necessary. As the anthropologist <a href="http://johnhawks.net/weblog/reviews/accel/question-on-selection-and-lactase-2014.html" target="_blank" rel="noopener noreferrer">John Hawkes noted</a> in his blog, milk from domesticated animals is a much more efficient use of farm animals than raising them for meat. In places in Europe, Arabia and in parts of Africa where cold or arid climates made consistent yields from farming grain difficult, milk was a good alternative source of nutrition.

23andMoo

A skull found in a previously undisturbed cave in Israel may hold important new evidence about human migration and intermixing with Neanderthals.
The paper <a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature14134.html" target="_blank" rel="noopener noreferrer"> published last month</a> by scientists from Tel Aviv University, offers new evidence about the timing of human migration out of Africa, and when those modern humans mixed with Neanderthals. not 
<div id="attachment_22187" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22187" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/skull580-300x171.jpg" alt="Photo: Clara Amit, Israel Antiquities Authority" class="size-medium wp-image-22187" width="300" height="171" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/02/skull580-300x171.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/02/skull580-574x330.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/02/skull580.jpg 580w" sizes="auto, (max-width: 300px) 100vw, 300px" />Photo: Clara Amit, Israel Antiquities Authority</div>
&nbsp;

<h6>A New Timeline?</h6>
The first anatomically modern humans emerged in Africa about 200,000 years ago. This latest finding appears to support several theories about the timing of the human migration <a href="https://www.nature.com/news/2011/110809/full/476136a/box/1.html" target="_blank" rel="noopener noreferrer">out of Africa</a> as well as the timing of intermixing between humans and Neanderthals.
All non-African people today carry traces of Neanderthal DNA. Based on DNA tests scientists have suggested that the interbreeding likely happened between 50,000 and 60,000 years ago.
A study last year, that used new techniques to more accurately date Neanderthal remains, suggested that Neanderthals and humans may have lived side-by-side for <a href="http://www.bbc.com/news/science-environment-28693371" target="_blank" rel="noopener noreferrer">up to 5,000 years</a>. But when and where the Neanderthals and modern humans mixed has been harder to pinpoint.
That’s what makes this study so interesting.
<h6>How Old?</h6>
Uranium-thorium dating of the skull shows that the remains are about 60,000-to-70,000 years old. Known as the Manot cave, the site is near the town of Haifa and within miles of several other archeological sites where Neanderthal remains dating from that same period have also been found. This suggests that at the very least the two species, homo sapiens and homo neanderthalensis, lived side-by-side in the Middle East during that time.
But the researchers involved in this study believe that the bones show more than that.
<h6>New Insights</h6>
According to the author of the study, <a href="http://english.tau.ac.il/news/discovery_ancient_skull" target="_blank" rel="noopener noreferrer">Tel Aviv University Professor Israel Hershkovitz</a>, the shape of the skull bears characteristics found in early modern humans. They are similar to remains found both in Africa and Europe. The skull also shares some characteristics found in Neanderthals. But whether the skull was of a human who had interbred with Neanderthals cannot be determined without recovering DNA from the skull.
Unfortunately, extracting DNA from this skull could prove very difficult. Unlike the remains of other ancient humans that were found in much colder climates where DNA can be preserved longer, these remains have been exposed to much higher temperatures. DNA begins to break down as it&#8217;s exposed to microbes, water and oxygen. Ancient DNA tends to be found in very small quantities and is often fragmentary or damaged.
So far the <a href="http://www.sciencemag.org/content/343/6178/1417.summary" target="_blank" rel="noopener noreferrer">oldest human DNA</a> was extracted from a bone found along a Siberian riverbank of a man who lived 45,000 years ago.
<img loading="lazy" decoding="async" class="alignright wp-image-14049" title="neanderthal icon" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/neanderthal-icon-96x150.jpg" width="50" height="77" />
Got Neanderthal DNA?
23andMe customers can <a href="https://www.23andme.com/you/labs/neanderthal/">find their inner Neanderthal</a> or at least how much Neanderthal DNA they have. Not yet a customer? <a href="https://www.23andme.com/store">Visit our store</a>!

Meeting At the Crossroads

Svante Paabo and his team in Leipzig are up to it again, <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/10/Svante-Paabo-and-Nikolay-Peristov-200x200.jpg" alt="Svante PÃ¤Ã¤bo and Nikolay Peristov discuss the Ust'-Ishim discovery" class="alignright size-thumbnail wp-image-21817" width="200" height="200" />and revealing more detail about interbreeding between modern humans and our early human cousins, the Neanderthals.
No stranger to extracting ancient DNA, Paabo, the director of evolutionary genetics at the <a href="http://www.mpg.de/eva-en?section=eb-evb-g" target="_blank" rel="noopener noreferrer">Max Planck Institute for Evolutionary Anthropology</a> in Leipzig, Germany, was the first to decode the Neanderthal genome.

<h6>Neanderthals and Modern Humans</h6>
That was when researchers first learned that Neanderthal and humans mated, and that all human with Asian or European ancestry, who are living today carry remnants of that Neanderthal DNA.
Beyond the marvel of actually extracting DNA from the femur of the ancient human known as the “Ust’-Ishim man,” and sequencing that DNA to the same accuracy as that achieved from sequences for living people, is what this sequence is telling scientists about human evolution and migration.
“The population to which the individual belonged may have split from the ancestors of present-day West Eurasian and East Eurasian populations before, or at about the same time, when these two first split from each other,” Paabo in an <a href="http://www.mpg.de/8710423/genome-earliest-modern-human?filter_order=L&#038;research_topic=" target="_blank" rel="noopener noreferrer">announcement</a> regarding the paper. 
<h6>Interbreeding</h6>
Although some of the <a href="https://www.npr.org/blogs/health/2014/10/22/358047524/a-45-000-year-old-leg-bone-reveals-the-oldest-human-genome-yet" target="_blank" rel="noopener noreferrer">coverage</a> this week, has focused on the fact that humans and Neanderthals were interbreeding, that really is old news. What’s more significant is what that DNA is telling us about <a href="https://www.nytimes.com/2014/10/23/science/research-humans-interbred-with-neanderthals.html?ref=science&#038;_r=0" target="_blank" rel="noopener noreferrer">when the interbreeding occurred</a> and hinted at when and where humans first migrated out of Africa and then into Asia and Europe.
The sequence indicated that this early human also had about the same percentage of Neanderthal DNA as we do today, but that the segments of that DNA were much longer. Because of how DNA recombines with each generation, this is what researchers thought they would see. It also helped them more precisely pinpoint when interbreeding between humans and Neanderthals occurred to sometime between 50,000 and 60,000 years ago.
<h6>Migration Timeline</h6>
Previous estimates ranged much wider saying that it occurred between 30,000 and 80,000 years ago. Pinpointing the time is significant because that period also corresponds with when humans were first migrating out of Africa and through the Middle East, according to Janet Kelso, who did the computer based analyses of the sequence. Humans likely migrated out of Africa about 100,000 years ago, and perhaps came into contact with Neanderthals in the Middle East, mixing with them there before migrating into Europe and Asia.
There is much more value in this ancient genome for researchers as they compare it to the genomes of modern humans. For instance, it allowed researchers to estimate that between one and two mutations per year accumulated in human populations in Europe and Asia since the Ust’-Ishim walked the earth.
Not much is known about this one man, however. There were no artifacts found with him. But looking at his DNA, researcher learned that he has more in common with modern Asians than with modern day Europeans. In their paper the researchers suggested that this lends weight to a theory that there were waves of migration into Europe, but that modern humans descend from a population who “did not participate in the initial dispersal of modern humans into Europe and Asia.”
<img loading="lazy" decoding="async" class="alignright wp-image-14049" title="neanderthal icon" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/neanderthal-icon-96x150.jpg" width="50" height="77" />
Got Neanderthal DNA?
23andMe customers can <a href="https://www.23andme.com/you/labs/neanderthal/">find their inner Neanderthal</a> or at least how much Neanderthal DNA they have. Not yet a customer? <a href="https://www.23andme.com/store">Visit our store</a>!

Dem Bones

<img loading="lazy" decoding="async" class="aligncenter wp-image-10750 size-full" title="top10ten" src="http://35.88.189.111/wp-content/uploads/2011/12/top10ten.jpg" alt="" width="306" height="345" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/12/top10ten.jpg 306w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w" sizes="auto, (max-width: 306px) 100vw, 306px" />
Take a moment to look back at the ten most interesting and significant genetic findings of 2012 or at least the ones that drew our attention.
In the last 12 months we’ve seen huge strides in genetic research giving us new insight into serious conditions such as Alzheimer’s as well as new treatments for cystic fibrosis. And in the last year scientists have made huge leaps in our understanding of the human genome itself with the culmination of a massive study of the so-called uncharted non-coding portions of our DNA – the ENCODE project.
Researchers at 23andMe continue to contribute to some of these important findings with groundbreaking work on the relative importance of family health history versus genetics when determining disease risk and a new method to screen for the genetic risk for certain types of blood disorders.
It’s been another great year of discovery and here’s our top ten.
<img loading="lazy" decoding="async" class="alignright wp-image-5677 size-full" title="alzheimers" src="http://35.88.189.111/wp-content/uploads/2009/12/alzheimers.jpg" alt="" width="435" height="310" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/alzheimers.jpg 435w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/alzheimers-300x214.jpg 300w" sizes="auto, (max-width: 435px) 100vw, 435px" />
1) &nbsp;A Genetic Variant Protective Against Alzheimer’s Disease – The T version of rs63750847 &nbsp;– also known as the A673T variant in the APP gene – was associated with about five times lower odds of <a href="https://www.ncbi.nlm.nih.gov/pubmed?cmd=Search&amp;db=pubmed&amp;term=22801501">Alzheimer&#8217;s</a>. While this is a very rare variant – only about one in 10,000 people of European descent have it – the research, done by the Icelandic company deCODE Genetics in association with Genentech, adds more insight into the development of the disease. Many mutations in the APP gene actually cause Alzheimer’s through an overproduction of beta amyloid protein in the brain (a hallmark of Alzheimer’s), but the protective variant appears to do the opposite, according to the study. New drugs built on this finding could help protect against Alzheimer’s, or even the mental ravages of normal aging. 23andMe does offer customers reports on their own Alzheimer’s risk based on the more common APOE variant, as well as a report on this protective APP variant.
<img loading="lazy" decoding="async" class="aligncenter wp-image-15558 size-full" title="encode" src="http://35.88.189.111/wp-content/uploads/2012/09/encode.jpg" alt="" width="574" height="334" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/09/encode.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/09/encode-300x175.jpg 300w" sizes="auto, (max-width: 574px) 100vw, 574px" />
2) &nbsp;ENCODE Project Creates a Map of the Uncharted Areas of the Genome – Much of the work in genetics has been focused on the areas in our DNA that code for proteins, but this is a very small part – just 1 percent – of our genome. The<a href="https://www.wired.com/wiredscience/2012/09/encode-human-genome/"> ENCODE project</a>, which has enlisted more than 400 scientists over several years, is attempting to map the rest of it, the so called<a href="https://blog.23andme.com/news/a-map-of-the-uncharted-genome/"> “dark matter” of the genome</a>. What they’ve created is the foundation of a sort of encyclopedia of the functions of many of these uncharted areas of the genome. It’s a resource that will be used by many scientists in the years to come.
3) &nbsp;Noninvasive Prenatal Sequencing – Two separate research groups reported within weeks of each other that they had<a href="https://blog.23andme.com/health-traits/noninvasive-sequencing-of-a-human-fetus/"> successfully sequenced a human fetus</a> and done so noninvasively. The breakthrough offers an opportunity for earlier prenatal screening than currently offered with amniocentesis or chorionic villous sampling (CVS) without the same risks for a developing fetus.
4) &nbsp;New insights into a group of rare blood disorders known as MPNs – In less than a year, 23andMe recruited a 1,000-person cohort with a group of rare blood disorders known as myeloproliferative neoplasms, or MPNs. Within months of reaching that goal we began reporting our<a href="https://blog.23andme.com/23andme-research/novel-genetic-findings-for-myeloproliferative-neoplasms/"> new findings</a>. Among them were replications of known genetic associations with the disease as well as new ones including an association between these conditions and variants in the TERT and ATM genes.
<img loading="lazy" decoding="async" class="aligncenter wp-image-6487 size-full" title="neanderthal_bones" src="http://35.88.189.111/wp-content/uploads/2010/05/neanderthal_bones.jpg" alt="" width="350" height="421" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/neanderthal_bones.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/neanderthal_bones-249x300.jpg 249w" sizes="auto, (max-width: 350px) 100vw, 350px" />
5) &nbsp;New Insights into Human Origins and Evolution – Several different studies highlight ongoing research on our early ancestors and the evolution of modern humans. Beyond the compelling tale of our early ancestors, the journey out of African and the intermixing with Neanderthals and Denisovans, the new research also gives us insight into the<a href="https://www.wired.com/wiredscience/2012/11/recent-human-evolution-2/"> significance of rare genetic variants</a>.
6) &nbsp;Family Medical and Genetics Used Together to Predict Disease – 23andMe <a href="https://blog.23andme.com/23andme-research/using-genetics-and-family-history-for-health/">developed a model</a> to show that both family history and genetic tests have strengths in predicting disease risks, but when used together they provide the best predictor for disease.
&nbsp;7) &nbsp;Older Dads’ Biological Clocks – For a long time prospective fathers could wile away the years without much worry about when to have kids, while prospective moms were constantly checking their ticking biological clocks.<a href="https://www.nature.com/nature/journal/v488/n7412/full/nature11396.html"> A study</a> may turn the tables a bit, pushing men to think a little more about how long they wait to start a family. The study says that as men grow older the number of de novo mutations they<a href="https://blog.23andme.com/health-traits/for-older-dads/"> pass onto their children increases</a>, and preliminary studies suggest that the more de novo mutations passed onto a child the higher the risk that child could develop certain types of conditions, such as autism and schizophrenia. That said becoming a dad can actually be good for you. There’s evidence linking <a href="https://blog.23andme.com/health-traits/ah-fatherhood-dirty-diapers-skinned-knees-and-healthier-hearts/">fatherhood to healthier hearts.</a>
8) &nbsp;Breast Size Matters, But Not How You Think – Researchers at 23andMe found that genetic factors influence breast size and that in turn these factors are connected to the genetics of breast cancer.
&nbsp;9) &nbsp;New Treatment for Cystic Fibrosis – &nbsp;Early in 2012 the FDA approved ivacaftor (Kalydeco ®) as a new treatment for cystic fibrosis, one of the most common recessively inherited diseases. The drug<a href="https://online.wsj.com/article/SB10000872396390444024204578046911440223842.html?mod=WSJ_TechInnovationAwards1012_MiddleSecondSummaries%20."> developed by Vertex Pharmaceuticals Inc</a>. is the first treatment that targets one of the underlying causes of cystic fibrosis – a specific genetic mutation – rather than its symptoms.
10) &nbsp;Autism Study Reveals No Genetic Associations – It may be strange to <a href="https://blog.23andme.com/health-traits/autism-study-reveals-no-genetic-associations/" target="_blank" rel="noopener noreferrer">point to a study that finds no genetic associations</a>, but sometimes an absence of evidence can hint toward new routes of study. Cases of Autism spectrum disorders – which run the gamut from mild to severe impairment and include autism, Asperger syndrome and other disorders – have become increasingly common in the U.S. Why that is, is not so easy to discern. The lack of an association doesn’t mean that genetics isn’t important. In fact twin studies suggest that autism is at least moderately heritable, but it may be that genetic variations play a smaller role than rare mutations or copy number variation in the risk of a person developing autism.

Top Genetic Findings of 2012

Soon children will be filling their backpacks with new notebooks and pencils and piling into yellow school buses.   Even if your school days are long past, you need not be left behind.
Learning is life-long, and you can continue your education using 23andMe&#8217;s short animated guides to human prehistory.
Distributed on-line both on our website (just the first three videos) and at the <a href="https://www.khanacademy.org/" target="_blank" rel="noopener noreferrer">Khan Academy</a> (all five videos), watching these free educational videos couldn&#8217;t be easier.
To learn a little more about genetics you don&#8217;t even need to get on a bus, just your computer.  It is time to go back-to-school!
To take the 23andMe course in Human Prehistory 101, watch the following five videos below. This is the first of three educational courses we&#8217;ll be posting in honor of the &#8220;Back-to-School&#8221; season.
You can check how well you really were paying attention by trying our &#8220;quiz&#8221; after the videos (and you stand a chance of winning a $25 Amazon Gift Card).   We&#8217;ll be announcing the correct answers and the winner of the contest on Wednesday, September 5th. Upon completion, you can take pride in your new knowledge by printing out a certificate that signifies your new human prehistory expert status!

<table id="movies" border="1" width="603" cellspacing="10" cellpadding="20">
<tbody>
<tr>
<td style="padding: 15px;"><img loading="lazy" decoding="async" class="alignright wp-image-15085 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/08/Prologue-300x235.jpg" alt="" width="300" height="235" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Prologue-300x235.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Prologue.jpg 542w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
<td style="padding: 15px;">
<h3>Prologue</h3>
Description: 
This <a href="https://youtu.be/Mm-IxK1GrYE" target="_blank" rel="noopener noreferrer">first video</a> sets the stage. You&#8217;ll learn about our ancestors and evolutionary cousins &#8212; who they were and how they lived.
 Time: 
4 min 41 sec</td>
</tr>
<tr>
<td style="padding: 15px;"><img loading="lazy" decoding="async" class="aligncenter wp-image-15124 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/08/Part11-300x228.jpg" alt="" width="300" height="228" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part11-300x228.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part11.jpg 603w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
<td style="padding: 15px;">
<h3>Part 1: Out of (Eastern) Africa</h3>
Description: 
In this<a href="https://youtu.be/8183HPmA2_I" target="_blank" rel="noopener noreferrer"> second video</a> learn about the birthplace of humanity &#8212; Africa &#8212; and why non-Africans may be descended from as few as 100 travelers.
 Time: 
5 min 35 sec</td>
</tr>
<tr>
<td style="padding: 15px;"><img loading="lazy" decoding="async" class="size-medium wp-image-15092 alignleft" src="https://blog-api.23andme.com/wp-content/uploads/2012/08/Part2-300x232.jpg" alt="" width="300" height="232" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part2-300x232.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part2.jpg 586w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
<td style="padding: 15px;">
<h3 style="text-align: left;">Part 2: Weathering the Storm</h3>
Description: 
Hot weather got your down?   This <a href="https://youtu.be/T9Nw66RCMhg" target="_blank" rel="noopener noreferrer">third video</a> is sure to cool you off.
 Time: 
3 min 25 sec</td>
</tr>
<tr>
<td style="padding: 15px;"><img loading="lazy" decoding="async" class="wp-image-15093 aligncenter" src="https://blog-api.23andme.com/wp-content/uploads/2012/08/Part3-300x211.jpg" alt="" width="300" height="211" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part3-300x211.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Part3.jpg 736w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
<td style="padding: 15px;">
<h3>Part 3: Agriculture Rocks Our World</h3>
Description: 
In this <a href="https://youtu.be/IVHD9wGlbho" target="_blank" rel="noopener noreferrer">fourth video</a> you learn about how agriculture not only changed our diets but also many social aspects of human society.
 Time: 
7 min 00 sec</td>
</tr>
<tr>
<td style="padding: 15px;"><img loading="lazy" decoding="async" class="size-medium wp-image-15094 aligncenter" src="https://blog-api.23andme.com/wp-content/uploads/2012/08/Epilogue-300x202.jpg" alt="" width="300" height="202" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Epilogue-300x202.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/Epilogue.jpg 732w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
<td style="padding: 15px;">
<h3>Epilogue</h3>
Description: 
This <a href="https://youtu.be/F-zRXHAo4-U" target="_blank" rel="noopener noreferrer">last video</a> tells the story of how humankind is being reunited.
 Time: 
2 min 45 sec</td>
</tr>
</tbody>
</table>
Update: This quiz is officially over! <a href="https://blog.23andme.com/articles/human-prehistory-101-results">Check out the answers here.</a> 
<div style="border: 1px solid #000; padding: 5px; font-style: italic; margin: 15px; width: 550px; float: center;">
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" style="float: left; margin-right: 15px;" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />You have now completed the entire 23andMe Human Prehistory course, the first in a three-part Back-to-School educational course series! Click on the certificate below get a larger image which you can print out and display it with pride.
<img loading="lazy" decoding="async" class="aligncenter wp-image-15149 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/08/PreHistoryPostCertificate-300x199.jpg" alt="" width="300" height="199" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/PreHistoryPostCertificate-300x199.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/PreHistoryPostCertificate-768x509.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/08/PreHistoryPostCertificate.jpg 852w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Want to continue your education? You can learn about <a href="https://www.23andme.com/you/" target="_blank" rel="noopener noreferrer">your self from both a health and ancestry perspective </a> on 23andMe. Not yet a customer? Visit our <a href="https://www.23andme.com/store/cart/" target="_blank" rel="noopener noreferrer">store</a>.
</div>

Back-to-School: Human Prehistory 101

by Mike Macpherson, Shirley Wu, and Joanna Mountain
<img loading="lazy" decoding="async" class="alignright wp-image-8628 size-medium" title="Hadza-hunter" src="http://35.88.189.111/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg" alt="A photo of a smiling young Hadza hunter girl." width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/03/Hadza-hunter.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />A young Hadza hunter
From just flecks of bone and specks of DNA, scientists have been able to piece together a story of the origin of our species.
<h2>Out of East Africa?</h2>
That story, by most accounts, begins in eastern Africa 100-200,000 years ago. After all, multiple lines of evidence point to eastern Africa &#8212; it’s where the oldest recognizable human bones have been found, where the linguistic diversity is richest, and it fits the available genetic data.
However, in this week’s issue of PNAS, researchers, including those from Stanford, UCSF, and 23andMe, present much more extensive genetic evidence suggesting that humans may have originated not in eastern but in southern Africa.
<h2>Using DNA</h2>
How can genetics tell you where a species originated? A general principle is that you tend to find the highest levels of genetic variation in the portion of the population that’s been around the longest. That’s because sub-populations that split off from an original population start out with just a sample of the original population’s gene pool, and it takes a very long time for new genetic variation to build up in the new sub-population.
Using this principle, one strategy for identifying a species&#8217; origin is to measure genetic variation in several places where the species lives and look for the place where the genetic variation is highest.
For this study, the authors gathered new genome-wide data from three click-speaking peoples from southern Africa living for millennia in relative isolation and seven northern African peoples. They also assembled existing genome-wide data from 14 further African populations, covering eastern, western, and central Africa, resulting in a continent-wide representation of genetic variation.
<h2>Different Theories</h2>
With this much coverage, the researchers would have been in a position to find evidence for human origins in any part of Africa; eastern Africa would be the front-runner, but researchers have argued that northern, central, and southern Africa are also plausible candidates.
However, they found that among all the populations they looked at, the highest levels of genetic variation were found in southern Africa. This suggests, the authors conclude that each of us may trace our ancestry (ignoring any contributions from Neandertals for now!) back to southern Africa, sometimes less than 100,000 years ago.
Although this new genetic evidence is intriguing, it’s not the end of the story. There’s some archaeological evidence to support a southern African origin, but for now, it’s fairly limited. These new data are also consistent with a scenario where humankind arose in eastern Africa but later migrated to southern Africa. Studies sampling genetic diversity in further African populations may help clarify the early history of our species.
<img loading="lazy" decoding="async" class="alignright wp-image-6513 size-medium" title="joanna_africa4" src="http://35.88.189.111/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg" alt="" width="300" height="207" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/joanna_africa4.jpg 357w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. Mountain in Africa during her time in the Peace Corps
<h2>Using GWAS</h2>
The insights of this study were enabled by genome-wide genetic data of the sort that 23andMe generates. In fact, they used exactly the kind of data that 23andMe generates; the southern African Sandawe, Hadza, and Khomani individuals were all genotyped on our 580,000-SNP v2 platform, just like many of our customers.
23andMe was proud to participate in this study, which was actually launched almost 15 years ago by 23andMe’s Senior Director of Research, Joanna Mountain. Dr. Mountain collected samples for the Hadza in Tanzania and initiated the recent sample collection in South Africa.
We are also proud to note that the study’s lead and second authors, Brenna Henn, and Christopher Gignoux, are former members of Team 23andMe. Brenna and Chris made many contributions to 23andMe’s product, most visibly to the Maternal and Paternal Line features.

Location, Location, Location: Did Humans Start Out in Southern Africa?

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-4589" title="chimp" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/chimp-300x200.jpg" alt="chimp" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/09/chimp-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/09/chimp.jpg 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />
We may be another step closer to discovering what makes us human.
A new study published online this week in <a href="https://genome.cshlp.org/content/early/2009/08/31/gr.095026.109.abstract" target="_blank" rel="noopener noreferrer">Genome Research</a> has pinpointed three genes in humans that may genetically differentiate us from chimps and other primates.
<h6>Shared DNA</h6>
Genetically we are very similar to chimps, so most of the differences researchers have observed to date regard physical appearance and <a href="http://www.archive.org/details/comparative_tests_on_human_chimp_infants" target="_blank" rel="noopener noreferrer">behaviors</a>.
The new study found several genes that were once silent and nonfunctional in our primate ancestors. They seem to have awakened around the time that humans formed a new evolutionary branch.
Researchers at the University of Dublin compared sections of the human genome with those of chimps and other primates. They found active genes that are absent from the chimp genome.
<h6>Human Genes</h6>
They found three human genes, CLLU1, C22orf45 and DNAHI0OS, that were present but inactive in non-human primates.

At the location of each of the three human genes, a disabling sequence of DNA was found in the genomes of the chimp, macaque, gorilla, gibbon and partially in the orangutan.
The study suggests that the awakened human genes shed their disabling components. But these awakened genes gained &#8220;enabling&#8221; sequences that helped them do the work of forming proteins in the body.
<h6>Awakened Genes</h6>
Previous research found that genes arising from inactive DNA were present in flies and yeast. The study suggests there may be a total of 18 awakened genes in humans. Yet researchers were limited to analyzing only a part of the 24,000-gene human genome.
The functions of these novel genes are not yet known. However, it is tempting to infer that these genes, specific to humans, are responsible for the attributes that differentiate us from other primates.

What Makes Us Human? Study Finds Hints By Comparing Chimp and Human DNA

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3359" title="neanderthaler_278" src="https://blog-api.23andme.com/wp-content/uploads/2009/04/neanderthaler_278.jpg" alt="" width="278" height="206">
Over the past decade, there has been no shortage of studies focused on the relationship between Neanderthals and our own species, Homo sapiens. Researchers have dug deep into the fossil record and our genomes to uncover how closely related we are to the Neanderthals, whether we interacted with them, and even whether our two species shared offspring.
But what about the Neanderthals themselves? We know that beginning around 400,000 years ago, they occupied over 3 million square miles of Europe and Western Asia, from Spain to Iraq. &nbsp; We know that they developed a unique tool technology and that they buried their dead. &nbsp; But what we really don&#8217;t know is how they compared to each other: &nbsp; were there in fact distinct Neanderthal sub-groups, shaped by the vastly different environments in which they lived? &nbsp; Or can they all be considered a single, genetically similar population? These questions are addressed in the most recent issue of <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005151" target="_blank" rel="noopener">PLoS One</a> by anthropologists from the UniversitÃ© de la MÃ©diterranÃ©e in France, using a method that is both unique and comprehensive. 
 
This study is of interest not only because it attempts to understand Neanderthal diversity, but also because it utilized data from a various sources. &nbsp; First, the researchers collected data from the mitochondrial DNA sequences of 12 separate Neanderthal skeletons. These skeletons ranged in age from 29,000 to 100,000 years and were uncovered in various parts of the Neanderthal homeland, from Siberia to Spain. &nbsp; The researchers then took physical measurements of the skeletons themselves. Finally, they developed and ran complex computer simulations based on the genetic and skeletal data, in an attempt to discover the most likely scenario for how Neanderthals evolved and spread across much of Eurasia.
The authors concluded that the most likely scenario for how the Neanderthals populated Europe and Western Asia involves three Neanderthal sub-groups: one centered in Western Europe, another in Southern Europe, and the final group in the Levant/Western Asia. &nbsp; They propose that the Neanderthals within each of these sub-groups were more genetically – and perhaps physically – similar to each other than they were to members of another sub-group. &nbsp; This is contrary to the idea that the Neanderthals were a single, uniform population.
This result begs the question of cultural distinctions between the sub-groups. &nbsp; After all, if they were genetically and physically different from one another, it is entirely plausible that cultural differences, such as tool technologies, between the sub-groups also existed. &nbsp; The authors hope to understand cultural differences between Neanderthal sub-groups in the same way as they&#8217;ve understood genetic and physical differences. &nbsp; And, as more fossils are found and more DNA extracted, we will hopefully develop – with even more confidence – a clear picture on the origins and movements of Neanderthals.

There’s More to Neanderthals than Meets the Eye

By Anne Wojcicki
After discussion with officials from the Food and Drug Administration today, 23andMe will comply with the FDA’s directive and stop offering new consumers access to health-related genetic tests while the company moves forward with the agency’s regulatory review <img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />processes.
23andMe has been giving consumers access to health information for six years and is committed to finding the right regulatory path for our customers.  I am highly disappointed that we have reached this point and will work hard to make sure consumers have direct access to health information in the near future.  Our goal is to work cooperatively with the FDA to provide that opportunity.
We also want to make clear that we stand behind the data we have generated for customers. Our lab partner adheres to strict quality standards that are part of the <a href="https://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatoryAssistance/ucm124105.htm">Clinical Laboratory Improvement Amendments of 1988</a> – known as CLIA. These are the same standards used in the majority of other health and disease-related tests. We decided several years ago to comply with CLIA guidelines to be consistent with other types of laboratory testing and to assure customers about the quality of data.
As we work with the FDA to get clearance, there will be some significant changes to the site.  Customers who purchased kits on or after the FDA’s warning letter of November 22nd will not have access to health-related results. Those customers will have access to ancestry-related genetic information and their raw data without 23andMe’s interpretation of that data. They may receive health-related results in the future, depending on FDA marketing authorization.
Customers who purchased kits before November 22, 2013 will continue to have access to all the reports they’ve always had.
This is clearly a much different service than in the past, so we are offering customers who purchased kits on or after November 22, 2013 a full refund if they wish. Those customers will get an email from 23andMe with details on the refund policy. Eligible customers who do not receive an email are encouraged to check their spam email folders for the email with their personalized instructions or contact our Customer Care Team.
Research is and will continue to be a significant priority for the company.  The 500,000+ customers we have today have given us more than 250 million survey data points.  You, our customer, have powered an incredibly important crowd-sourced research database that I believe can have a significant impact on the pace of discoveries and cures. We will continue our Parkinson’s, sarcoma, MPN and African American research projects and plan to launch more communities in 2014.
23andMe will also continue educational efforts to consumers, physicians and other health providers as we believe genetics will be an increasingly important part of all of our lives.
Finally, I want to say thank you to our customers for your support and your stories.  Many of you have written in about how 23andMe has changed your life.  It is rewarding for me and all the employees at 23andMe to serve our customers.  I am committed to 23andMe and committed to being a pioneer in the genetics revolution.

23andMe’s Updates Regarding FDA’s Review

<img loading="lazy" decoding="async" class="alignright wp-image-6586 size-medium" title="23andMe_Logo_blog" src="http://35.88.189.111/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="An image of the 23andMe logo." width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Today 23andMe <a href="https://www.23andme.com/about/press/fda_application/">announced</a> that we’ve submitted our first round of 510(k) documentation to the U.S. Food and Drug Administration (FDA). The application provides a detailed description of our Personal Genome Service ®, extensive data supporting the performance of our technology, and comprehensive discussions of the science supporting the information we present to customers about their genetics and its impact on health.
Not too long ago personal genomics was a new idea. Consumer personal genomics was even more novel &#8212; the idea that everyone, not just doctors and researchers or those with special health needs, could know what was in their DNA. What wasn’t new was the desire to improve our knowledge of what all that DNA means and for that knowledge to make a difference in people’s lives.
We started 23andMe six years ago with those goals in mind and since then more than 150,000 people have joined us to learn more about what&#8217;s in their bodies and to contribute to our innovative research platform. Already our growing research community has made discoveries in many diverse topics, including the photic sneeze reflex, male pattern baldness, and Parkinson’s disease.
As with anything new and potentially disruptive, there have also been concerns. The FDA responded to some of these concerns by indicating that direct-to-consumer genetic testing services require regulatory review to remain on the market. We remain strong in our belief that consumers have a fundamental right to their personal genetic data. We believe personal genetic data will power a revolution in healthcare. But we also recognize that appropriate oversight of this industry can be a stepping stone on the path to realizing that revolution.
For the last three years we have worked with FDA to apply their regulatory approach to direct-to-consumer genetic testing. It is important to us that a regulatory framework for genetic testing reflect the dynamic nature of genetic science and protect individual access. What we know about the genome changes every day. If we want our genetic information to be current, there needs to be a way for us to update that information quickly.
We are confident that our initial application to the FDA is complete and comprehensive. Being the first in the industry to announce we are actively working toward FDA clearance of our direct-to-consumer service demonstrates our commitment to make personal genetics an integral part of routine healthcare without sacrificing people’s right to access information about themselves. Our goal is to remain the world’s trusted source of genetic information &#8212; not just for people with a doctor’s order, but for everyone regardless of why or how they choose to learn about their DNA. DNA is fascinating, but it’s even more fascinating when it’s about you.

23andMe Takes First Step Toward FDA Clearance

<img decoding="async" class="alignright size-medium wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x299.jpg" alt="" width="250" />
In March earlier this year, <a href="https://blog.23andme.com/articles/23andme-presents-at-fda-advisory-panel-meeting-on-direct-to-consumer-genetic-tests/" target="_blank" rel="noopener">23andMe presented its views</a> on possible federal regulation of the direct-to-consumer (DTC) genetic testing industry at an Advisory Committee meeting convened by the FDA. We reiterated our belief that individuals have a right to access their own genetic information without physician involvement, and suggested components of a regulatory framework that would ensure the high quality of that genetic information while maintaining direct-to-consumer access to personal genetic testing and enabling innovation.
Despite compelling arguments for DTC genetic testing the panel concluded that access to most types of health-related genetic tests should require a physician’s approval. At 23andMe, we encourage individuals to discuss their genetic test results with their health care providers and involve them fully in decision-making about their health. But we also contend that individuals should be allowed direct access to this information. We continue to work with FDA to develop a reasonable path forward.
In the months before and following the meeting, many of you responded to our call and submitted public comments to the FDA supporting as well as arguing against direct-to-consumer genetic testing. More open and honest debate about this issue can only be beneficial for the industry over the long run.
On September 22, 2011, Bay area citizens will have another chance to make their voices heard. FDA’s Center for Devices and Radiological Health (CDRH) will be holding the third of its 2011 public town hall discussions where individuals can present their views directly to senior CDRH officials, including the Center Director, the Deputy Director for Science, and the head of the Office of In Vitro Diagnostics, which regulates DTC genetic testing. The September town hall will be held at the Embassy Suites Hotel near the San Francisco international airport.
For more information about the town hall, see the official FDA announcement. Note that while anyone in attendance can ask questions during the Q&amp;A session, individuals must register and specifically request to speak if they would like to make comments during the public presentation period.
If you have strong opinions on whether individuals should have direct access to their genetic information, we encourage you to continue making your views known to FDA, whether through in-person meetings such as the town hall in September, or through letters and other correspondence. After all, we believe that having more information is a good thing!

FDA to Hold Public Town Hall Discussion in San Francisco

<img decoding="async" class="alignright size-medium wp-image-8732" title="DNA-chains" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" />
On March 8th, the FDA convened a two-day advisory panel meeting to discuss questions related to direct-to-consumer genetic tests. The questions focused on the benefits and risks of providing consumers with direct access to these tests, potential strategies for communication and education to mitigate any risks, and regulatory standards for ensuring that the tests are accurate and reliable. As one of the leading companies in this area, we felt it was important to outline our perspectives and broad requests on these topics, and were pleased to see many other companies from the industry join us in expressing similar views. Updated meeting materials are now available  on the FDA website, and both presentations that 23andMe gave at this meeting are available <a href="https://blog.23andme.com/articles/23andme-presents-at-fda-advisory-panel-meeting-on-direct-to-consumer-genetic-tests/" target="_blank" rel="noopener">here</a>.
In the several years since the direct-to-consumer genetic testing industry made its debut, it has seen all manner of reaction. Many are fascinated by our newfound ability to peek into our genomes, to add another source of data to the ones we already collect, and to leverage it to know more about our connections to the world, whether that be literally through known and predicted relatives or through the relationship between genetics and our health and traits. Others may not be interested or may not want to know what their genetics might tell them.  But some feel that all genetic tests and/or their interpretations should be available only through a physician.
For our part, 23andMe was founded on the belief that individuals have a right to access their own genetic information, and this conviction is still as firmly held as ever.
While the debate is clearly no longer academic &#8212; many more people are aware of and using these tests and the FDA is taking an active role in learning about and devising guidelines for this industry as a result &#8212; it is clear that challenges remain. Some observers fear that the panel’s recommendations will severely curtail direct access to genetic testing, but we agree with <a href="http://www.genomicslawreport.com/index.php/2011/03/11/the-fda-and-dtc-genetic-testing-setting-the-record-straight/" target="_blank" rel="noopener">Dan Vorhaus</a> of Genomics Law Report that the FDA will take a reasoned approach to integrating the feedback it received from its panel with other information pertinent to the issue.
The advisory panel meeting was in many ways a microcosm of the ongoing debate, with one exception. Although the panel had an individual representing the consumer and the patient, the panel did not have the opportunity to hear directly from consumers and others who have first-hand experience with the information provided by direct-access genetic testing services.
Fortunately, there are many channels through which you can make your voices heard. The FDA has reopened the public docket on this topic for the submission of additional comments (until May 2, 2011) and we strongly encourage those of you with an opinion or perspective on the questions posed by the FDA regarding DTC genetic tests to send in a comment. Regardless of the content of those comments, we believe that a larger number and a wider variety of comments will be beneficial for helping the FDA to guide its regulatory policies in this area.
<ul>
<li>Electronic comments can be submitted at <a href="http://www.regulations.gov/" target="_blank" rel="noopener">http://www.regulations.gov/</a>, referencing docket ID FDA-2011-N-0066.</li>
<li>Written comments, referencing docket ID FDA-2011-N-0066 in the header, can be sent to: 
Division of Dockets Management (HFA-305) 
Food and Drug Administration 
5630 Fishers Lane, Rm 1061 
Rockville, MD 20852</li>
</ul>
You can also post comments to the <a href="https://www.facebook.com/FDA" target="_blank" rel="noopener">FDA Facebook page</a>, or attend one of several FDA (Center for Devices and Radiological Health, or CDRH) town hall meetings. The next town hall meeting will be held in May in Orlando, FL, and there is also one planned for San Francisco at a place and time to be announced.
Finally, it may be helpful to make your congressional representatives aware of your views on this issue. You may contact members of the <a href="https://en.wikipedia.org/wiki/United_States_House_Committee_on_Energy_and_Commerce" target="_blank" rel="noopener">House Committee on Energy and Commerce</a>, or find contact information online for your own House representative or <a href="http://www.senate.gov/general/contact_information/senators_cfm.cfm" target="_blank" rel="noopener">Senator</a>.

DTC Genetic Tests and the Future of Regulation: Make Your Voices Heard

Editor&#8217;s note: This post has been altered from the original. The slides from the presentation have been removed.
23andMe, like many others, believes that individuals have a right to access their own genetic information and that personal genetics will pave the way for significant advances in healthcare. These beliefs fueled the development of our direct access <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener">Personal Genome Service</a> ® &nbsp;and <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, our web-based, participant-driven research platform. As for any other new industry
<img decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="(max-width: 350px) 100vw, 350px" />
or technology, however, there are concerns about the validity, accuracy, and applicability of the services and information that companies in the direct-to-consumer genetic testing industry provide. 23andMe supports thoughtful regulation that ensures consumers receive high quality information and enables, rather than inhibits, innovation.
Over the next two days, the FDA is hosting an Advisory Panel Meeting to address a number of questions related to clinical genetic tests that are marketed and provided directly to consumers. The FDA will be hearing the ideas and perspectives primarily of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, which include voting members and temporary members added for this meeting. In addition, the FDA has invited several speakers to present background information and their views on this topic, and has provided for one hour each day for public comment.
It is during the public comment period that 23andMe will be giving two presentations. This afternoon, 23andMe’s General Counsel Ashley Gould will speak about our position on the subject matter the panel will be addressing as well as our broad requests for the panel’s consideration. 23andMe’s Senior Director of Regulatory Affairs &amp; Quality Assurance, Rose Romeo, will present tomorrow afternoon on considerations for risk mitigation and thoughts on regulatory frameworks moving forward. Slides from both of their presentations can be viewed below. The agenda and other background material are available at the FDA website, including <a href="http://www.regulations.gov/#!docketDetail;dct=PS+N;rpp=10;po=0;D=FDA-2011-N-0066" target="_blank" rel="noopener">public comments</a>.
Much of the complexity in discussing regulation of genetic testing stems from the brisk evolution of technologies in this area. The first draft sequence of the human genome was first published only 10 years ago, and companies are now sequencing full genomes on demand at increasingly affordable prices. In our presentations, we take the position that all genetic testing services, whether ordered by a physician or offered through direct access, should adhere to the same standards. We simultaneously request that the FDA consider redefining and establishing regulatory standards, including some fundamental definitions, to accommodate large-scale genetic testing and support innovation of its technologies and applications. We also request that regulation be based upon evidence and not fear of potential harm to individuals which, to date, has not been demonstrated. In fact, growing numbers of participating individuals and independent studies focused on this issue provide preliminary evidence that the vast majority of people understand the information presented and experience no significant negative effects.
23andMe has been proactively collaborating with the FDA and remains committed to finding a path forward that benefits everyone. The addition of Rose Romeo to our team, who has extensive regulatory experience and is eager to help us forge that path, attests to the strength of that commitment. We look forward to working together with a wide variety of agencies, organizations, and the medical community at large to establish the regulatory and functional frameworks that will ensure consumers and healthcare professionals have access to genetic information that is clear, useful, and engaging.

23andMe Presents at FDA Advisory Panel

This week, 23andMe added a new genetic report to help us all be more aware of an often overlooked contributor to health disparities.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="763" src="http://35.88.189.111/wp-content/uploads/2025/08/duffy-statistic-1024x763.png" alt="" class="wp-image-34101" style="width:309px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-1024x763.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-300x224.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-768x572.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-880x656.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-1180x879.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic.png 1224w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<a href="https://pubmed.ncbi.nlm.nih.gov/35994632/" target="_blank" rel="noreferrer noopener">Nearly 70%</a> of Black and African Americans have two copies of a variant in the Duffy antigen gene that can cause them to have white blood cell (WBC) counts that are lower than most standard reference ranges.&nbsp;



People who have this genotype — called Duffy null status — do not have an increased risk for <a href="https://pubmed.ncbi.nlm.nih.gov/32959868/" target="_blank" rel="noreferrer noopener">infection</a> or <a href="https://pubmed.ncbi.nlm.nih.gov/39825822/" target="_blank" rel="noreferrer noopener">other health problems</a>. But they may be flagged incorrectly as having abnormally low WBC counts, which can negatively impact the healthcare they receive.&nbsp;



&#8220;I&#8217;ve seen patients that are told that they might have cancer, go through painful bone marrow biopsies, miss out on joining clinical trials, or have critical medications like chemotherapy discontinued simply because their white blood cell counts were interpreted without understanding their Duffy status,&#8221; says Dr. Lauren Merz, Assistant Professor of Medicine, Division of Hematology/Oncology at the University of Michigan, who is leading efforts to raise awareness about Duffy null status and develop Duffy null-specific reference ranges and who provided expert feedback on 23andMe&#8217;s new report.



<h2 class="wp-block-heading" id="h-when-a-one-size-fits-all-blood-test-falls-short">When a one-size-fits-all blood test falls short</h2>



When we have our blood drawn, testing labs use reference ranges to determine whether our results fall in the range considered &#8220;normal&#8221; or are too high or too low, which can flag the need for clinical follow-up. One common blood test measures neutrophils, which are a type of white blood cell that helps the body fight infections.



Most neutrophil reference ranges are defined based on populations where Duffy null status is rare, such as people with European or Asian genetic ancestry. And blood testing labs don&#8217;t usually take into account Duffy status. As a result, <a href="https://pubmed.ncbi.nlm.nih.gov/35994632/" target="_blank" rel="noreferrer noopener">nearly 25%</a> of healthy Black and African Americans with Duffy null status — and more than 15% of all Black and African Americans — have neutrophil counts below the standard reference range.



These individuals may be misdiagnosed with neutropenia (low neutrophil counts), which can lead to a number of downstream harms, including <a href="https://pubmed.ncbi.nlm.nih.gov/34180972/" target="_blank" rel="noreferrer noopener">unnecessary specialty referrals and follow-up tests</a> like bone marrow biopsies; <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">exclusion from clinical trials</a> (because many trials require a minimum number of neutrophils that is higher than the normal range for people with the Duffy null genotype); and delayed or reduced access to medications for <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">cancer</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/34645395/" target="_blank" rel="noreferrer noopener">mental health conditions</a>, and <a href="https://pubmed.ncbi.nlm.nih.gov/35724382/" target="_blank" rel="noreferrer noopener">autoimmune disorders</a>. (See the sidebar at the bottom for more details.)



<h2 class="wp-block-heading" id="h-what-is-the-duffy-antigen-and-how-does-it-impact-white-blood-cells">What is the Duffy antigen, and how does it impact white blood cells?</h2>



<figure class="wp-block-image alignleft size-large is-resized"><img loading="lazy" decoding="async" width="87" height="138" src="http://35.88.189.111/wp-content/uploads/2021/11/research.b57972a5e8fa.svg" alt="an icon representing research" class="wp-image-29284" style="width:117px;height:auto"/></figure>



The Duffy antigen is a protein found on the surface of red blood cells and certain other cells in the body. People with two copies of a specific <a href="https://www.cincinnatichildrens.org/health/d/duffy-null-associated-neutrophil-count" target="_blank" rel="noreferrer noopener">genetic variant in the ACKR1 (Duffy antigen) gene</a> don&#8217;t express this protein on their red blood cells — giving rise to the name &#8220;Duffy null.&#8221;



Being Duffy null can also impact infection-fighting white blood cells called neutrophils. People who are Duffy null tend to have naturally lower levels of circulating neutrophils in the peripheral blood — <a href="https://pubmed.ncbi.nlm.nih.gov/37338884/" target="_blank" rel="noreferrer noopener">about 40% lower, on average</a>. But they don&#8217;t have an increased risk for infection, because the total number of neutrophils in their bodies remains the same. (Their neutrophils just move from the blood into other tissues like the spleen more easily.)



In the past, healthy people with low neutrophil counts were said to have &#8220;benign ethnic neutropenia,&#8221; because the Duffy null variant is more common in certain populations. But the preferred name is now <a href="https://www.cincinnatichildrens.org/health/d/duffy-null-associated-neutrophil-count" target="_blank" rel="noreferrer noopener">Duffy null-associated neutrophil count (DANC)</a>, as this refers to the biological driver of Duffy status rather than the social construct of race or ethnicity — and highlights that lower neutrophil counts are normal for people who are Duffy null.



<h2 class="wp-block-heading" id="h-is-duffy-null-status-associated-with-any-health-conditions">Is Duffy null status associated with any health conditions?</h2>



To date, there is no robust evidence that people with Duffy null status are at increased risk for any health conditions. In fact, a <a href="https://pubmed.ncbi.nlm.nih.gov/39825822/" target="_blank" rel="noreferrer noopener">recent, large phenome-wide association study (PheWAS)</a> — which looked for potential associations between the Duffy null variant and 1,400 possible health conditions using the National Institutes of Health&#8217;s All of Us initiative and other cohorts — did not report any associations with disease. However, this is an active area of research.



<h2 class="wp-block-heading" id="h-why-is-duffy-null-status-most-common-in-certain-populations">Why is Duffy null status most common in certain populations?</h2>



Although anyone can have Duffy null status, it is most common among people with African or Middle Eastern ancestry. In the U.S., two-thirds of people who identify as Black or African American have the Duffy null genotype, which means they do not express the Duffy antigen on their red blood cells.&nbsp;



Scientists believe this variant became common in certain populations because it <a href="https://pubmed.ncbi.nlm.nih.gov/21468018/" target="_blank" rel="noreferrer noopener">helps protect against Plasmodium vivax</a>, a malaria parasite that relies on the Duffy antigen to infect red blood cells. (The variant does not protect against other types of malaria.) Over generations, people in regions where this malaria parasite was widespread were more likely to inherit this protective variant, and it remains common today in people with ancestry from some malaria-endemic regions.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="934" height="597" src="http://35.88.189.111/wp-content/uploads/2025/08/af_rs2814778_C.png" alt="" class="wp-image-34139" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C.png 934w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-300x192.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-768x491.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-880x562.png 880w" sizes="auto, (max-width: 934px) 100vw, 934px" /><figcaption class="wp-element-caption">23andMe data also show that the Duffy null genetic variant is most common in people with ancestry from parts of the world where Plasmodium vivax malaria is common.</figcaption></figure>



<h2 class="wp-block-heading" id="h-the-importance-of-raising-awareness">The importance of raising awareness</h2>



Last year, the American Society of Hematology (ASH) launched the <a href="https://www.hematology.org/education/danc/danc-project" target="_blank" rel="noreferrer noopener">Absolute Neutrophil Count (ANC) by Duffy Status Project</a>, aimed at creating specific neutrophil reference ranges for people with the Duffy null genotype and advocating for broader awareness and testing.



&#8220;The Duffy null genotype is a perfect example of how well-meaning systems can fall short when they don&#8217;t reflect the full diversity of the people they serve,&#8221; says Dr. Merz. &#8220;Raising awareness — among both clinicians and patients — is essential to prevent misdiagnosis and ensure more equitable and personalized care.&#8221;



You can become your own advocate by learning about your Duffy status and sharing that information with your doctor.&nbsp;



The White Blood Cell Count (Duffy Antigen-Related) report is available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium™ members</a> with their other Wellness reports.



<div style="float: left; text-align: justified; width: 700px; background-color: #eee; padding: 15px; margin-left: 5px;">
 
<h3>A deeper dive: How lack of awareness of Duffy null status can lead to downstream harm</h3>


Although Duffy null status does not usually cause health problems, harms can arise when Duffy null individuals are misdiagnosed with abnormally low neutrophil counts. These harms can include:
<ul>
<li>
Unnecessary follow-up testing. In general, low neutrophil counts can prompt concern from doctors, because they can be caused by blood cancers like leukemia. Follow-up testing involves a bone marrow biopsy, which is an invasive and sometimes painful test. 
 Because their neutrophil counts may be naturally lower than standard reference ranges, people with Duffy null status are much more likely to receive <a href="https://pubmed.ncbi.nlm.nih.gov/34180972/" target="_blank" rel="noreferrer noopener">unnecessary bone marrow biopsies</a>. And one study reported that Duffy null status was the <a href="https://pubmed.ncbi.nlm.nih.gov/37419240/" target="_blank" rel="noreferrer noopener">most common reason</a> for children to be referred to a children&#8217;s hospital for low neutrophil counts.
</li>
 
<li>
Exclusion from clinical trials. Many chemotherapy drugs reduce WBC production, which can make patients more susceptible to infections. As a result, most cancer clinical trials require patients to have a minimum neutrophil count before starting the trial, to help keep patients safe. 
 But a recent study found that more than 75% of cancer clinical trials have neutrophil thresholds that <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">exclude some people with Duffy null status</a>. Researchers have suggested these exclusion criteria may be one reason that Black Americans are <a href="https://pubmed.ncbi.nlm.nih.gov/37477920/" target="_blank" rel="noreferrer noopener">less likely to be included in cancer clinical trials</a>.
</li>
 
<li>
Delayed or reduced access to medications. Because some medications reduce WBC production, patients often have their neutrophils counted before and during treatment, so that their clinicians can adjust the dose, delay the start of treatment, or discontinue medications if counts become too low. 
 Because people with Duffy null status tend to have lower starting neutrophil counts, they may experience reduced or delayed access to important medications for <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">cancer</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/34645395/" target="_blank" rel="noreferrer noopener">mental health conditions</a>, and <a href="https://pubmed.ncbi.nlm.nih.gov/35724382/" target="_blank" rel="noreferrer noopener">autoimmune disorders</a>, or inappropriate dose adjustments. Because chemotherapy dose often increases the chance of survival, some scientists think that inappropriate chemotherapy dosing related to Duffy null status could help explain, in part, why <a href="https://www.cancer.org/about-us/what-we-do/health-equity/cancer-disparities-in-the-black-community.html" target="_blank" rel="noreferrer noopener">breast cancer mortality is higher in Black than white Americans</a>.
</li>
</ul>

</div>

The Duffy Antigen Gene: A Clue Behind White Blood Cell Differences

<h2 class="wp-block-heading" id="h-understanding-osteoporosis-a-common-and-manageable-condition">Understanding osteoporosis: a common and manageable condition</h2>



This week, 23andMe released a new report on <a href="https://you.23andme.com/reports/prs.osteoporosis/">osteoporosis</a> for 23andMe+ Premium members.&nbsp;



Osteoporosis is a condition where bone density becomes too low, making bones more fragile and more likely to break or fracture. According to the <a href="https://www.osteoporosis.foundation/facts-statistics/key-statistic-for-north-america">International Osteoporosis Foundation</a>, about half of females and up to a quarter of males in the U.S. will break a bone due to low bone density.



Osteoporosis is <a href="https://www.niams.nih.gov/health-topics/osteoporosis">sometimes called a “silent disease”</a> because it usually has no symptoms until people break a bone. These breaks – most commonly in the spine, hip, or wrist – can be caused by minor falls, normal activities like bending or lifting, or even spontaneously. Fortunately, osteoporosis is highly actionable if diagnosed early. There are medications that can slow bone loss, and strategies that can help prevent falls.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="306" height="126" src="http://35.88.189.111/wp-content/uploads/2025/01/PRS-Hero.jpg" alt="icons of broken bone" class="wp-image-33645" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/01/PRS-Hero.jpg 306w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/01/PRS-Hero-300x124.jpg 300w" sizes="auto, (max-width: 306px) 100vw, 306px" /></figure>



<h2 class="wp-block-heading" id="h-the-role-of-dna-in-bone-health">The role of DNA in bone health</h2>



<a href="https://pubmed.ncbi.nlm.nih.gov/35478046/">According to published data</a>, it&#8217;s estimated that genetics explains ~60-80% of the variability in bone density. Knowing about one&#8217;s genetic likelihood of developing osteoporosis can prompt early conversations with healthcare providers to determine if screening might be appropriate. 



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="416" height="234" src="http://35.88.189.111/wp-content/uploads/2025/01/Ways-to-Take-Action.png" alt="" class="wp-image-33646" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/01/Ways-to-Take-Action.png 416w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/01/Ways-to-Take-Action-300x169.png 300w" sizes="auto, (max-width: 416px) 100vw, 416px" /></figure>



<h3 class="wp-block-heading" id="h-ways-to-take-action">Ways to take action</h3>



It can also help to implement strategies to avoid falls and to take preventative measures such as:



<ul class="wp-block-list">
<li> making exercise (especially weight-bearing exercise) part of your daily routine</li>



<li>eating a healthy diet with plenty of vitamin D and calcium</li>



<li>maintaining a healthy weight (being underweight is associated with increased risk) </li>



<li>avoiding alcohol and smoking.</li>
</ul>



<h2 class="wp-block-heading" id="h-about-the-23andme-osteoporosis-report">About the 23andMe Osteoporosis report</h2>



23andMe+ Premium’s new Osteoporosis report* estimates one’s genetic likelihood of osteoporosis using a statistical model known as a polygenic risk score (PRS). The report uses an individual’s genetic results at many genetic markers, along with their genetic ancestry and birth sex, to estimate the likelihood of developing osteoporosis. The Osteoporosis report was developed by 23andMe scientists and clinical experts using data from 23andMe’s customers who consented to participate in research.



A published<a href="https://permalinks.23andme.com/pdf/23_25-PRSMethodology.pdf"> white paper </a>fully details the science and methodology behind 23andMe’s PRS technology. While the genetic variants included in the report play a role, the report does not account for all factors that could impact a person’s likelihood of developing osteoporosis.



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



 23andMe+ Premium members can view this with their other Health Predisposition reports.



Current 23andMe Health + Ancestry Service customers on the current genotyping chip can receive this and 35+ other reports by joining a 23andMe+ Premium membership within their account.



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



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



NOTE: Within this blog post and the Osteoporosis 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/360010964373-How-23andMe-Uses-Your-Genetic-Sex-Birth-Sex-and-Gender">help article</a>.



* The 23andMe Osteoporosis PRS report is based on a genetic model that includes data and insights from 23andMe consented research participants and incorporates more than 22,000 genetic variants to provide information on the likelihood of developing osteoporosis. The report does not describe a person’s overall likelihood, does not account for lifestyle or family history and has not been reviewed by the US Food and Drug Administration. The Osteoporosis PRS report is not intended to tell you anything about your current state of health, or to be used to make medical decisions or determine any treatment.

A New Report on Osteoporosis

Recently discovered 17 donor siblings? Unsure when to tell your cousin about her secret sister?



No genetic testing conundrum is too big—or too complicated—for Chelsea Handler.



<h6 class="wp-block-heading" id="h-dear-chelsea">Dear Chelsea</h6>



The comedian and TV personality brought her signature blend of caustic, straightforward humor to the latest episode of<a href="https://podcasts.apple.com/us/podcast/spit/id1422827494"> Spit</a>, an iHeartMedia and 23andMe podcast.



<figure class="wp-block-image aligncenter size-larger"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/11/Dear_Chelsea-880x880.jpg" alt="" class="wp-image-30778"/></figure>



Spit, which is hosted by Baratunde Thurston, explores how DNA gives us a new perspective on who we are and how we are all connected. The show looks at both the personal and the broader implications of genetic testing with a mix of analysis, camaraderie, and the intimacy that comes from people sharing their stories.



<h6 class="wp-block-heading" id="h-family-history">Family History</h6>



Over the course of 47 minutes, Chelsea answered listener questions and doled out expletive-laden advice.&nbsp;



She reflected on her family history (she’s 50% Ashkenazi Jewish) and revealed some of the health insights she discovered after taking the 23andMe Health + Ancestry Service, including one of her Pharmacogenetic reports that predicted she was an ultrarapid drug metabolizer* and may process certain medications faster (a result she deemed “very on the nose”).&nbsp;



When caller Katie wondered if she should spill the beans about a secret sister just a week before her cousin’s wedding, Chelsea dove into the notion of responsibility, and suggested that Katie’s dad should be the one to break the news. “I would encourage your dad to have that conversation and also let him know – if he doesn’t, you will,” she said. “I like threatening people,” she joked, “I think that’s a great approach.”



<hr class="wp-block-separator has-text-color has-foreground-color has-alpha-channel-opacity has-foreground-background-color has-background is-style-wide"/>



<h6 class="wp-block-heading has-small-font-size" id="h-note">NOTE</h6>



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



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

Comedian Chelsea Handler Has (Almost) All the Answers

By Eloycsia Ratliff, MPH, 23andMe Medical Education Project Manager
Editor&#8217;s note: This is the second in an occasional series about 23andMe&#8217;s Medical Education program.
We sometimes hear misconceptions from healthcare professionals about what we do at 23andMe, especially when discussing our health reports. This post is meant to address the most common misunderstandings in hopes that we can provide some clarity and improve understanding of the 23andMe experience.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/08/Doctor-236x300.jpg" alt="" class="alignright size-medium wp-image-27331" width="236" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/Doctor-236x300.jpg 236w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/Doctor-768x975.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/Doctor-693x880.jpg 693w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/08/Doctor.jpg 788w" sizes="auto, (max-width: 236px) 100vw, 236px" />

<h6>What are we testing?</h6>
At the DNA level, it’s estimated that the DNA of any two people is 99.5 percent identical, but it’s small differences that make us unique. These differences in our genome are called variants, and they can be linked to certain health conditions, traits, and ancestry groups. At 23andMe, we genotype DNA by extracting it from saliva samples — the DNA comes from white blood cells that are found naturally in the saliva and epithelial cells from the cheeks and mouth. Although genotyping doesn’t analyze an individual’s entire DNA sequence, it does allow us to look at about 600,000 DNA variants, which power our reports. 
&nbsp;
The variants included in 23andMe’s test are used in reports, not just on traits such as your likelihood of having a widow’s peak or about ancestry, but to estimate genetic risks for certain health conditions that are part of 23andMe Genetic Health Risk reports, which includes reports authorized by the FDA.*
&nbsp;
<h6>How accurate are our reports?</h6>
23andMe is the first and only direct-to-consumer genetic testing service that includes reports authorized by the FDA. As part of that authorization process, 23andMe demonstrated analytical validity of the genotyping platform (accuracy in detecting a genetic variant) by achieving greater than 99 percent concordance when compared to Sanger sequencing, considered the gold standard for accuracy. In addition, the requirements for demonstrating clinical validity (well-established association between variant and the condition) were met. 
&nbsp;
<h6>What are the limitations of 23andMe&#8217;s Carrier Status and Genetic Health Risk Reports*</h6>
As with most tests, there are limitations specific to each report that are clearly stated within the customer’s results.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/reports_online-300x300.png" alt="" class="alignright size-medium wp-image-25130" width="300" height="300" />There can be thousands of variants associated with a specific health condition and our report may only look at some of the more common variants, meaning if someone has one of the variants not tested, they could still be at increased genetic risk for the condition. For example, there are more than a thousand variants in the BRCA1 and BRCA2 genes associated with an increased risk for certain cancers, but 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk* report looks at just three of these variants. And these variants are most commonly found in people with Ashkenazi Jewish ancestry. For individuals who find out they have one of these three variants, which can significantly increase their risk for cancer, this information can be extremely impactful when shared with their providers. But for customers who do not carry one of these variants, it’s important that they understand that they may still have a variant not tested. In addition, reports don’t account for family history, environment, and lifestyle which can also influence overall risk. 23andMe Genetic Health Risk reports state that not having a variant covered by our test does not mean someone is without risk.
&nbsp;
23andMe highlights the intended use, limitations, and relevant ethnicities in Genetic Health Risk and Carrier Status  reports. In addition, we have conducted user comprehension studies to ensure that our consumer can understand our Genetic Health Risk and Carrier Status reports. 
&nbsp;
If a 23andMe customer shows his or her healthcare provider their report, this information can be found in the report overview under the “How to Use this Test” section. As always, we encourage our customers (your patients) to consult with their healthcare provider. 
&nbsp;
<h6>How much control do customers have?</h6>
At 23andMe, our customers decide for themselves whether to view their health reports. 
But before making that decision, we want to ensure our customers understand what they’ll be viewing. To do this, we’ve created multiple steps in the process that requires customers to manually select what information they want to view and what information they want to share. In addition, customers viewing their health reports must undergo specific tutorials to help them understand the key concepts presented in their reports. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/04/Opt-In-Individual-Report.001-300x162.jpg" alt="" class="alignright size-medium wp-image-26120" width="300" height="162" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/Opt-In-Individual-Report.001-300x162.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/Opt-In-Individual-Report.001-768x414.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/Opt-In-Individual-Report.001-880x474.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/Opt-In-Individual-Report.001.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
For our “sensitive reports,” which are linked to more serious health conditions like late-onset Alzheimer’s* and Parkinson’s disease*, customers must additionally opt-in to viewing those specific results. This manual process must be done for every “sensitive” report that is launched.
&nbsp;
<h6>Now, let’s talk about research! </h6>
While we believe participating in research can contribute to some promising breakthroughs in medical research, we want our customers to make that powerful choice for themselves. 
&nbsp;
All 23andMe customers who want to participate in research must undergo our informed consent process, which requires a customer to manually click “Yes” to participate. Without a customer’s consent, 23andMe cannot use their data for research.  <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/Research3-225x300.png" alt="" class="alignright size-medium wp-image-26332" width="225" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Research3-225x300.png 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Research3-768x1024.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Research3-660x880.png 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Research3-885x1180.png 885w" sizes="auto, (max-width: 225px) 100vw, 225px" />
&nbsp;
Data used for 23andMe research is de-identified and used in aggregate with other anonymous data. Customers participating in research can opt-out at any time, but most of 23andMe’s customers want to participate. More than 80 percent have opted-in to 23andMe research. Their contributions have led to the development of additional reports such as our <a href="http://www.23andme.com/topics/health-predispositions/type-2-diabetes/">Type 2 Diabetes Health Predisposition</a>** report released in March, and the publication of more than<a href="https://research.23andme.com/publications/"> 130 papers in peer-reviewed journals</a>. Again, our customers are in the power seat, and they tell us where they want their data to go and what they want to see. It is their experience!
&nbsp;
To help understand our reports and overall consumer experience, healthcare professionals can visit our website for healthcare professionals, <a href="https://medical.23andme.com/">medical.23andme.com</a>. The site includes <a href="https://medical.23andme.com/reports/#genetic-health-risks">sample reports </a>with various result outcomes. Additionally, you can find webinars and on-demand report walkthroughs led by our product scientists and genetic counselors. Our latest report walkthrough highlights our <a href="https://medical.23andme.com/webinar/mutyh-associated-polyposis-report/">MUTYH- Associated Polyposis Genetic Health Risk report</a>* released in May. We understand the need for this information and want to make sure you aware of the resources available to you.
<hr />
*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet US FDA requirements for genetic health risks and the 23andMe Type 2 Diabetes health predisposition report which is based on 23andMe research and has 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 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 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. Warnings &amp; Limitations: 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. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer. The two variants included in this report are most common in people of Northern European descent. These reports do not include variants in other genes linked to hereditary cancers and the absence of variants included in these reports do 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 other genetic health risk reports and carrier status reports, visit  <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info</a>.
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**The 23andMe Type 2 Diabetes report is based on 23andMe research and incorporates more than 1,000 genetic variants to provide information on the likelihood of developing type 2 diabetes.  The report does not account for lifestyle or family history and has not been reviewed by the US Food and Drug Administration. Visit <a href="http://www.23andme.com/topics/health-predispositions/type-2-diabetes">23andMe’s Type 2 Diabetes landing page</a> for additional important information.

Common Misconceptions Healthcare Professionals have about 23andMe

It turns out that genetics has a lot to do with whether someone will suffer from gout – the disease once associated with gluttonous indulgence and King Henry VIII.
Diet clearly plays a role, but genetics has a big influence on whether a person will develop this painful form of arthritis, which is caused by high uric acid levels.<img loading="lazy" decoding="async" class="aligncenter wp-image-19518 size-full" src="http://35.88.189.111/wp-content/uploads/2013/10/Henry-VIII.jpg" alt="" width="627" height="766" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/10/Henry-VIII.jpg 627w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/10/Henry-VIII-246x300.jpg 246w" sizes="auto, (max-width: 627px) 100vw, 627px" />
Estimates are that about four percent of people in the U.S. have gout at any given time, and 10-20 percent of people may suffer a gout attack at some point in their lives.
Gout has become increasingly prevalent in recent decades as rich diets have become more commonplace. But genetics also plays an important role in the condition, specifically variants in genes involved in the excretion of uric acid from the kidneys.
Variants in the genes ABCG2 and SLC2A9 are associated with increased risk for gout. The gene ABCG2 encodes a protein that transports uric acid out of cells, while SLC2A9 encodes a protein that helps regulate the amount of uric acid removed from the blood by the kidneys.
<div style="float: right; text-align: justified; width: 250px; background-color: #eee; padding: 15px; margin-left: 10px;">Editor’s note: 23andMe no longer offers customers a genetic health report on gout. Customers who purchased prior to November 22, 2013 will still be able to see an archive health reports.</div>
Gout can be quite painful. When the body produces too much uric acid, the uric acid can form crystals in the joints that trigger attacks from the immune system. Consuming rich foods, <a href="http://ard.bmj.com/content/early/2013/09/10/annrheumdis-2013-203600.full">sugary drinks</a>, red meats and beer can increase the risk for developing the condition. For those at risk or who already have the condition, there are treatments and recommendations for keeping attacks at bay. Among the recommendations are staying well-hydrated, limiting the intake of red meat, beer and sugary drinks and regular monitoring of the uric acid level in your blood. There are also some<a href="http://gouteducation.org/medical-professionals/gout-treatment-options/"> medications</a> used to help control the condition. Gout is also associated with other conditions including cardiovascular disease, hypertension, kidney disease and obesity.
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">
&#8220;KING OF DISEASE&#8221;<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1890" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/smiling_dalmatian-150x150.jpg" alt="smiling_dalmatian" width="150" height="150" />
</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">Everywhere there is DNA being made or broken down, there is uric acid. The build up of uric acid causes gout, but uric acid is also a molecule that is one of the building blocks of genes.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">So why is it that gout is an extremely rare disease in the animal kingdom?
The answer goes by the name &#8220;uricase.” This gene produces a protein that breaks down uric acid. Uricase evolved a very long time ago and exists in organisms ranging from<a href="http://www.ijps.ir/?_action=articleInfo&amp;article=1833"> single-celled bacteria</a> to <a href="https://www.ncbi.nlm.nih.gov/pubmed/2594778">almost all vertebrates</a>. Its existence protects against uric acid build-up and, therefore, against gout.
Unfortunately, for us humans, the uricase gene in our DNA is so mutated it no longer works. But we are not the only species to suffer from the so-called “King of Disease.”
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<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">Dalmations also <a href="https://blog.23andme.com/news/gene-links-gout-in-humans-with-bladder-stones-in-dalmatian-dogs/">famously get gout</a>. In their case the mutations occur in a gene called SLC2A9 that helps excrete uric acid from the body. Interestingly, variations in this same gene are also associated with gout in humans. <a href="http://www.2ndchance.info/gout.htm">Most birds</a> and some reptiles also develop gout, especially when kept as pets. This seems to be the result of extremely high protein diets and kidney failure.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">Perhaps the most surprising species afflicted with this disease is the T-rex. Fossil evidence of damaged joints have provided a convincing argument that the King of Dinosaurs, perhaps appropriately, harbored the King of Diseases. However, in this case, we may never be sure whether it was caused by a genetic mutation or a diet rich in red meats.</div>
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">Fossil evidence of damaged joints have provided a convincing argument that the King of Dinosaurs, perhaps appropriately, harbored the King of Diseases. However, in this case, we may never be sure whether it was caused by a genetic mutation or a diet rich in red meats.
</div>

A 23andMe Gout Out

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />You might know them as bloggers, but several of our main contributors are Health Content Scientists here at 23andMe.
Their day-to-day work touches on nearly every aspect of what 23andMe does. While they do a lot, their main job is finding the most important, scientifically valid and actionable genetic health information and getting that information to customers in the most understandable way possible.
“Being a health scientist at 23andMe gives you a unique opportunity &#8212; the chance to change the way people see genetics and their health,” said Emily Chang, who is part of the team.
Emily and her fellow Health Content Scientists are responsible for all the health content created by 23andMe, and they’ve been integral in developing many of the features and tools you see on the site.
To do it right, the work requires that they each draw on all their years of scientific experience to sort through the reams of genetic research that continues to flow from universities and labs. Finding interesting research isn’t hard, but finding information that has been validated and meets our strict standards takes patience and careful analysis. To then take that research and translate it into something that makes sense and is useful for the average person can also be a challenging problem –  but one that our Health Content Scientists view as equally important.
One of 23andMe’s core missions is to be the world’s most trusted source of genetic information. To do that our team stays on top of the latest research and also digs deep to unearth results that could have a big impact on customers.
So when they&#8217;re not blogging, our Health Content Scientists are busy making sure 23andMe customers have the latest most important and actionable health information available.

23andMe’s Health Content Scientists

Thyroid disease is surprisingly common. Studies have estimated that around 1 in 20 people in the U.S. have hypothyroidism or hyperthyroidism, some of the most common thyroid conditions.[1,2] Yet despite how prevalent thyroid disease is, it&#8217;s also frequently missed. According to the American Thyroid Association, up to 60% of people with a thyroid condition are unaware of it.[3]



<h2 class="wp-block-heading" id="h-thyroid-101">Thyroid 101</h2>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="422" src="http://35.88.189.111/wp-content/uploads/2025/05/hashimotos-report-icon-1024x422.png" alt="" class="wp-image-33934" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-1024x422.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-300x124.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-768x316.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-880x362.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-1180x486.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon.png 1224w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The thyroid is a butterfly-shaped organ in the neck, just in front of the trachea, that <a href="https://www.23andme.com/topics/health-predispositions/hashimotos-disease/?srsltid=AfmBOoqCPT1mfxaBMpCBrjlJJP_jB7OXbGh7CJ03xS9Njaw1R4tjhA-H" target="_blank" rel="noreferrer noopener">despite its small size plays an important role</a> in a range of physiological functions. It produces thyroid hormone, which circulates throughout the body and impacts metabolism, energy levels, and more. If the thyroid is underactive (<a href="https://www.mayoclinic.org/diseases-conditions/hypothyroidism/symptoms-causes/syc-20350284" target="_blank" rel="noreferrer noopener">hypothyroidism</a>), it doesn&#8217;t produce enough thyroid hormone. Conversely, if it&#8217;s overactive (<a href="https://www.mayoclinic.org/diseases-conditions/hyperthyroidism/symptoms-causes/syc-20373659" target="_blank" rel="noreferrer noopener">hyperthyroidism</a>), it produces too much.&nbsp;



The most common causes of both conditions are autoimmune disorders,[4] where the body&#8217;s immune system mistakenly attacks cells in the thyroid.



<h2 class="wp-block-heading" id="h-what-makes-thyroid-diseases-difficult-to-diagnose-nbsp">What makes thyroid diseases difficult to diagnose?&nbsp;</h2>



One factor is that symptoms can be non-specific. With autoimmune hypothyroidism, for instance, <a href="https://my.clevelandclinic.org/health/diseases/17665-hashimotos-disease" target="_blank" rel="noreferrer noopener">symptoms</a> can include things like weight gain, low energy, joint stiffness, and depression — which can easily be mistaken as the result of stress or too much time behind a computer, for example. Plus, symptoms can come on gradually over time. Or symptoms may come and go.&nbsp;



<h2 class="wp-block-heading" id="h-sometimes-it-s-more-than-just-stress">Sometimes it&#8217;s more than just stress</h2>



A common scenario for someone with undiagnosed Hashimoto&#8217;s: you start to notice gradual but unexplained weight gain along with unshakeable fatigue, and decide to double down on diet and exercise. Yet you see little impact of these efforts. That&#8217;s such a common experience — even for those with normal thyroid function — that it might not occur to you, or your doctor, to get a blood test to rule out potential thyroid problems.



The good news is that once they&#8217;re diagnosed, both hypothyroidism and its counterpart, hyperthyroidism, are treatable, though they may demand lifelong attention to managing them.



<h2 class="wp-block-heading" id="h-exploring-the-role-of-genetics">Exploring the role of genetics</h2>



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="845" src="http://35.88.189.111/wp-content/uploads/2018/04/DNA-Discovery-1024x845.png" alt="" class="wp-image-26142" style="width:224px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-1024x845.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-300x248.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-768x634.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-880x726.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-1180x974.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery.png 1270w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Like other autoimmune conditions, Hashimoto&#8217;s disease and autoimmune hyperthyroidism (Graves&#8217; disease) have a strong genetic component. It&#8217;s been observed that individuals have a &#8220;set point&#8221; or characteristic level of thyroid hormone,[5] and genetics may explain up to two-thirds of the variation between individuals in this set point.[6]



So could genetics help identify people more likely to experience thyroid conditions? In recent years, research has explored how genetics can be used to predict risk for diseases like Hashimoto&#8217;s using polygenic risk scores, or PRS. Someone with the highest <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2022.pdf" target="_blank" rel="noreferrer noopener">genetic likelihood for Hashimoto&#8217;s disease based on a PRS calculated by 23andMe</a> has a <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2022.pdf">3-6 times higher odds</a> of being diagnosed with this condition than someone with an average genetic likelihood.[7]&nbsp;



Polygenic scores also have promising applications for <a href="https://pubmed.ncbi.nlm.nih.gov/32132206/" target="_blank" rel="noreferrer noopener">predicting risk of thyroid cancer</a>, predicting <a href="https://pubmed.ncbi.nlm.nih.gov/37453101/" target="_blank" rel="noreferrer noopener">subtypes of thyroid cancer</a>, and even improving <a href="https://pubmed.ncbi.nlm.nih.gov/37683082/" target="_blank" rel="noreferrer noopener">AI tools for predicting</a> which thyroid nodules are malignant.&nbsp;



And genomics can help tease apart the <a href="https://pubmed.ncbi.nlm.nih.gov/38291025/" target="_blank" rel="noreferrer noopener">biological mechanisms</a> of thyroid function that underlie all these conditions.



<h2 class="wp-block-heading" id="h-genetics-as-a-tool-for-awareness-and-early-action">Genetics as a tool for awareness and early action</h2>



Genetic insights can reveal an increased susceptibility to thyroid conditions, empowering individuals to be more proactive about their health. This heightened awareness could pave the way for faster diagnoses and earlier treatments. And that translates to more years of good health.



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References:



[1]Doubleday AR et al. (2020). &#8220;Hyperthyroidism.&#8221; Gland Surg. 9(1):124-135. <a href="https://pubmed.ncbi.nlm.nih.gov/32206604/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/32206604/</a>&nbsp;



[2]Patil N et al. (2024). &#8220;Hypothyroidism&#8221;. StatPearls [Internet]. Accessed May 19, 2025, from <a href="https://www.ncbi.nlm.nih.gov/books/NBK519536/" target="_blank" rel="noreferrer noopener">https://www.ncbi.nlm.nih.gov/books/NBK519536/</a>.



[3]American Thyroid Association. &#8220;General Information/Press Room.&#8221; Accessed May 19, 2025, from <a href="https://www.thyroid.org/media-main/press-room/" target="_blank" rel="noreferrer noopener">https://www.thyroid.org/media-main/press-room/</a>.&nbsp;



[4]Vanderpump MP. (2011). &#8220;The epidemiology of thyroid disease.&#8221; Br Med Bull. 99:39-51. <a href="https://pubmed.ncbi.nlm.nih.gov/21893493/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/21893493/</a>&nbsp;



[5]Andersen S et al. (2002). &#8220;Narrow individual variations in serum T(4) and T(3) in normal subjects: a clue to the understanding of subclinical thyroid disease.&#8221; J Clin Endocrinol Metab. 87(3):1068-72. <a href="https://pubmed.ncbi.nlm.nih.gov/11889165/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/11889165/</a>



[6]Panicker V. (2011). &#8220;Genetics of thyroid function and disease.&#8221; Clin Biochem Rev. 32(4):165-75. <a href="https://pubmed.ncbi.nlm.nih.gov/22147956/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/22147956/</a>



[7]Ashenhurst JR et al. (2025). &#8220;White Paper 23-21: A generalized method for the creation and evaluation of polygenic scores.&#8221; 23andMe. Accessed May 19, 2025, from <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf" target="_blank" rel="noreferrer noopener">https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf</a>.

Today Is World Thyroid Day and Genomics Is Here for It

<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/200901_omag_cover_220.jpg" alt="" class="aligncenter size-large wp-image-12132" width="1" height="1" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/04/200901_omag_cover_220.jpg 220w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/04/200901_omag_cover_220-150x150.jpg 150w" sizes="auto, (max-width: 1px) 100vw, 1px" />What do media mogul Oprah Winfrey, actress Mary-Louise Parker, and Olympic runner Carl Lewis have in common?<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/200901_omag_cover_220.jpg" alt="" class="alignright size-large wp-image-12132" width="1" height="1" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/04/200901_omag_cover_220.jpg 220w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/04/200901_omag_cover_220-150x150.jpg 150w" sizes="auto, (max-width: 1px) 100vw, 1px" />
Aside from their more than 15 minutes of fame, all three have been diagnosed with hypothyroidism, a condition where the body does not make enough thyroid hormone. This, in turn, can lead to fatigue, depression, weight gain, and joint pain, among other symptoms. Hypothyroidism affects about 5% of the general population, mostly women over the age of 50, making it the most common thyroid disorder.
Hypothyroidism can result from an autoimmune disease such as Hashimoto’s thyroiditis, radiation therapy, or from treatment for hyperthyroidism (overactive thyroid). Genetics are especially likely to play a role in cases with no obvious underlying environmental cause. Despite its prevalence and “celebrity” status, however, the genetic factors influencing hypothyroidism are still mostly unknown.
In 2011, the <a href="https://www.ncbi.nlm.nih.gov/pubmed/21981779">first genome-wide association study of hypothyroidism</a> was published. A year later, 23andMe has published the second, and now largest, <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0034442">study of genetic factors</a> for the condition (<a href="https://www.23andme.com/about/press/hypothyroidism/">read more in our press release</a>). 
By comparing DNA and survey information from more than 3,700 people with hypothyroidism and about 35,500 people without the condition (all of European descent), we replicated previously observed genetic associations and discovered several additional genetic variants associated with hypothyroidism.
Two of these variants are near genes that have already been linked to thyroid disease. The C version of rs925489 near the FOXE1 gene (equivalent to the A version of rs7850258) is associated with slightly lower odds of hypothyroidism and the A version of rs2476601 near the PTPN22 gene is associated with higher odds of the disorder.
The PTPN22 variant is actually well-established as a risk factor for multiple autoimmune diseases.
A third association is with rs3184504 in the gene SH2B3, which has not been linked to thyroid disease previously but, like PTPN22, is associated with a number of autoimmune conditions. The C version of this SNP is associated with slightly lower odds of hypothyroidism. Similarly, another SNP associated with hypothyroidism in our study, rs2517532, is located in a region of the genome that is important for immune system function.
Our findings indicate that there is a significant autoimmune component to hypothyroidism, in addition to influences from genes directly related to thyroid function and hormone levels. Studies have shown that different autoimmune conditions cluster together, suggesting possible shared biology.
The association we report between SH2B3 and hypothyroidism is similar to the associations previously reported between this gene and psoriasis, type 1 diabetes, and rheumatoid arthritis, but different from the association between this gene and multiple sclerosis and celiac disease. The placement of hypothyroidism along the spectrum of autoimmune disease may help define future research into causes and treatments for this common disorder.

New genetic variants found to influence risk of hypothyroidism

In our last post, we announced four of the posters 23andMe scientists will be presenting in Montreal this week describing characteristics of our database and research platform. With the help of our tens of thousands of research<img loading="lazy" decoding="async" class="alignright size-large wp-image-10018" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/phenome-crop.png" alt="" width="1" height="1" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/10/phenome-crop.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/10/phenome-crop-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/10/phenome-crop-295x300.png 295w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2011/10/phenome-crop-271x149.png 271w" sizes="auto, (max-width: 1px) 100vw, 1px" /> participants, we&#8217;ve already made novel discoveries into the genetics of common traits as well as Parkinson&#8217;s disease. At ICHG/ASHG 2011, we&#8217;ll share some more of the novel findings we&#8217;ve discovered, covering everything from allergies to risk assessment.
(For a full list of 23andMe&#8217;s presentations, click &nbsp;<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.)
Piecing together the complicated picture of allergies
If you’re like 20% of Americans, you probably suffer from at least one allergy. Your particular trigger might be cats, or maybe it&#8217;s dust mites, pollen, nuts, shellfish, or bees. And if that&#8217;s not enough misery, allergies are often accompanied by asthma as well. To learn more about the genetic factors influencing the allergy-asthma spectrum, scientists from 23andMe, Stanford, the United Kingdom, and Johnson &amp; Johnson analyzed data from more than 20,000 participants in the 23andMe database and the Avon Longitudinal Study of Parents and Children (ALSPAC).
Principal Scientist Dr. David Hinds discusses their findings during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Genetics of allergy and related phenotypes in participant driven and cross sectional cohorts.&#8221; (#417T)
(Also see our Research Finding on correlations between allergies.)
N 
ew genetic factors for hypothyroidism
What do Oprah Winfrey, Kelly Osbourne, and Linda Ronstadt have in common? Yes, they&#8217;re all famous women, but they also all suffer from hypothyroidism, a condition that affects about 5% of the population. 23andMe scientists conducted the first genome-wide association study of this common thyroid condition and identified four genetic factors associated with the disease, some of which have already been implicated in other thyroid disorders and some that are novel.
Founding Scientist Dr. Brian Naughton presents these findings and their broader connection with other autoimmune diseases during the poster session on Wednesday October 12th between 3-4pm with his poster, &#8220;Novel associations for hypothyroidism include known autoimmune risk loci.&#8221; (#1334W)
From genome to phenome
What do you get when you cross thousands of SNPs with thousands of phenotypes gathered from tens of thousands of people? Intriguing associations for everything from migraines to mosquito bites. Many genetic variants are associated with multiple conditions, a finding that was especially prominent amongst physical traits. We also found that associations for seemingly frivolous traits (breast size) can uncover biological relationships for serious diseases (breast cancer).
Principal Scientist Dr. Nick Eriksson describes these and other fascinating discoveries during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population.&#8221; (#430T)
All in the family &#8212; or not?
Conventional wisdom says that family history is the best overall method for assessing a person&#8217;s risk for disease, but is it really? How do SNP-based models compare to family history in assessing risk for disease? &nbsp;Perhaps not surprisingly, neither method is universally better than the other, but rather the relative performance of each depends on the characteristics of the disease. For less common diseases in particular, SNP-based risk assessments may perform better than family history.
Principal Scientist Dr. Nick Eriksson will be presenting the results of these analyses performed by Scientist Dr. Chuong (Tom) Do during the poster session on Wednesday October 12th between 3-4pm with the poster, &#8220;Prediction of complex multifactorial disease: comparing family history and genetics.&#8221; (#408W)
And that’s not all…
Read more about characteristics of our database and research cohorts <a title="23andMe Scientists Head to Montreal for ICHG/ASHG, Eh" href="https://blog.23andme.com/articles/23andme-scientists-head-to-montreal-for-ichgashg-eh">here</a>. Check back tomorrow to learn more about the last two presentations we’ll be giving covering methods behind our Ancestry Finder feature and how we decide what genetics findings to include in our Personal Genome Service ®.
For a full list of 23andMe&#8217;s presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.
You can also follow us on Twitter for highlights from the conference <a href="https://twitter.com/#!/23andme" target="_blank" rel="noopener">@23andMe</a> or <a href="https://twitter.com/#!/23science" target="_blank" rel="noopener">@23science</a>.

23andMe Scientists at ICHG/ASHG 2011

By Erica Bellman, Ancestry Content Writer
Let’s imagine that, in lieu of your Aunt Betsy from Seattle, an ancient Neanderthal woman is coming to your house for Thanksgiving this year. Hide the china and practice your grunting, right? Well, maybe not. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25886" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/iStock-596802262-300x200.jpg" alt="" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262-1180x787.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/11/iStock-596802262.jpg 1254w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Though their table manners might be lacking, the popular &#8220;caveman&#8221; stereotype is more myth than fact. Neanderthals were actually quite similar to modern humans and exhibited complex social behaviors.
“As a culture, we tend to think of Neanderthals as these brutish, bent-over, hairy individuals—a bit more ape-like than us. But there’s no evidence that supports that idea,” said Professor Tim Weaver, an anthropologist at UC Davis whose research focuses on human evolution. “I think the stereotype that’s permeated our popular culture stems from old reconstructions of the Neanderthals dating back to the early 20th century. As far as we can tell from their anatomy, genetics, and behavioral and cultural remains, Neanderthals were very similar to modern humans.”
<div style="float: right; text-align: justified; width: 320px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h6>More about your Neanderthal guest</h6>
<ul>
<li>She probably lives in a cave—so try to be sensitive if she’s not up on the latest in politics and pop culture.</li>
<li>Neanderthals were thought to be quite social. Your guest likely has a nuclear family and a close-knit community of hunter-gatherers, so be sure to ask about her kids, parents, and friends.</li>
<li>Her physical traits may include a heavier brow, an oval-shaped skull, and a larger-than-average nose (try not to stare).</li>
<li>She’s probably on the stockier and more muscular side, so make sure her seat comfortably accommodates her stature.</li>
<li>Based on evidence that Neanderthals possessed sophisticated <a href="https://www.sciencedaily.com/releases/2015/01/150114101528.htm">toolmaking skills</a>, your guest may be able to handily carve up the turkey or roast using a stone or bone instrument.</li>
<li>She may or may not be able to communicate with you verbally<a href="#_ftn5" name="_ftnref5">[5]</a> , so be prepared to use another means of conversing.</li>
<li>Be sure to ask about her neighborhood. Neanderthals were intimately in touch with their surroundings, harvesting from the land to survive. She’ll be an expert on the best hikes and outdoor activities in her homeland.</li>
</ul>
</div>
<h6>Cousin</h6>
Here’s what we know of our human cousins.
The Neanderthals were our closest extinct relatives who lived throughout Eurasia 200,000 to 40,000 years ago, during the Pleistocene Epoch. Over this time glaciers retreated and advanced, and once-abundant food sources became scarce.
Before anatomically modern humans (that’s us) left Africa, the ancestors of the Neanderthals ventured into Eurasia. Ultimately, the Neanderthals would inhabit<a href="#_ftn1" name="_ftnref1">[1]</a> a vast expanse of land stretching from Portugal to western Siberia and from northern Europe to Israel and Iraq. The Neanderthals intermixed with modern humans emerged from Africa about 60,000 years ago, giving us both <a href="https://blog.23andme.com/23andme-research/new-neanderthal-research/">evolutionary advantages</a> (like the functioning of our immune systems<a href="#_ftn2" name="_ftnref2">[2]</a>) and some <a href="https://blog.23andme.com/news/the-neanderthal-within/">less-favorable variants</a>, such as susceptibility to certain allergies, depression, and blood clots.
<h6>Some History</h6>
For millennia Neanderthals thrived, but eventually they went extinct, and scientists aren’t entirely sure why. Some theorize that migration and random species drift<a href="#_ftn3" name="_ftnref3">[3]</a> (a mechanism of evolution that produces random, rather than selection-driven, genetic changes in a population) caused the disappearance of the Neanderthals, while others blame dietary insufficiencies<a href="#_ftn4" name="_ftnref4">[4]</a> caused by changing ecological and climatic conditions. Perhaps the most popular explanation for the disappearance was competition with modern humans for resources.
But one thing is for certain: the Neanderthals did intermix with modern humans before their demise, so segments of their DNA live on in many of us today. Unless you’re from Sub-Saharan Africa, your DNA reflects somewhere between one percent and four percent Neanderthal ancestry.
<h6>Time to Eat</h6>
Now, we’ll get to the main course of this post: what to serve your guest for Thanksgiving dinner. Contrary to popular belief, Neanderthals were not all die-hard carnivores, so it’s best to avoid offending your guest with a plethora of meat dishes. Rather, our ancient relatives adapted their diets to match the resources that were readily available and most abundant in nutrients, so be sure to ask where exactly she is from. Your Neanderthal guest may also be particular about what she will and won’t eat. “From what we know from the archaeological record and the bones found at Neanderthal sites, they seemed to focus more on large mammals rather than small game like rabbits. The breadth of their diets seems to have been narrower than those of modern humans,” said Professor Weaver.
Two Neanderthal individuals found in a cave in El Sidrón, Spain appeared to have consumed little to no meat. Traces of pine nuts, moss, tree barks, and mushrooms were found in this pair’s dental plaques, suggesting a mostly vegetarian diet (err, except for the evidence of cannibalism found in their cave&#8230;but we digress). After studying the dental plaques of another Neanderthal found in Spy, Belgium, scientists concluded<a href="#_ftn6" name="_ftnref6">[6]</a> that the individual ate mostly meat, as well as some mushrooms. Woolly rhino or wild sheep ragout, anyone? The bones of mammoths, reindeer, and horses were also found in the Spy cave. Other research<a href="#_ftn7" name="_ftnref7">[7]</a> reports that Neanderthals living on the Gibraltar coast may have eaten various mollusks, seals, and even dolphins. In summary, Neanderthals ate what was most readily available and nutrient-dense in their immediate surroundings; they adapted their diets<a href="#_ftn8" name="_ftnref8">[8]</a> to meet the resources provided by their environments.
Enjoy connecting with your Neanderthal guest and learning about some of the traits you might have in common. By the end of the meal, we predict you and your other relatives will be competing to see who had the good fortune of acquiring the most Neanderthal DNA.
<h5 style="text-align: center;">Curated Menu</h5>
<ul>
<li><a href="http://www.simplyrecipes.com/recipes/sauteed_greens_with_pine_nuts_and_raisins/">Sauteéd Greens with Pine Nuts and Raisins</a>. Opt for wild edible greens like dandelion and chicories. High in fatty acids and calorically rich, pine nuts also contain lutein, a carotenoid that may help prevent eye disease.</li>
<li><a href="https://www.epicurious.com/recipes/food/views/leek-and-wild-mushroom-stuffing-107292">Wild Mushroom and Leek Stuffing</a>. If your guest is from Spain, she’s likely fond of a variety of mushrooms. High in dietary fiber, B vitamins, and minerals, they’re fundamental to her diet. Bonus points if you forage for them yourself.</li>
<li><a href="http://www.foodnetwork.com/recipes/alton-brown/crown-roast-of-lamb-recipe-2082917">A Crown Roast of Lamb</a>. Rather than turkey, opt for this earthy, gamey alternative. Your guest will appreciate the simple preparation and ample protein. If lamb isn’t available, your guest may also enjoy venison or reindeer.</li>
<li><a href="http://www.foodandwine.com/recipes/baked-clams-bacon-and-garlic">Baked Clams with Bacon and Garlic</a>. Your guest may hail from a coastal region. She’d appreciate these flavorful bivalves, oven-roasted with savory bacon and spices.</li>
<li><a href="http://www.forestandfauna.com/foraging-wild-greens-miners-lettuce-salad/">Miner’s Lettuce Salad.</a> Since it’s still unclear whether all Neanderthals were as adept at controlling fire as their human relatives<a href="#_ftn9" name="_ftnref9">[9]</a>, we’re also including a raw option. This version has fresh Miner’s lettuce, a wild edible that tastes like a cross between watercress and spinach.</li>
<li><a href="https://cooking.nytimes.com/recipes/1015198-fresh-and-wild-mushroom-stew">Wild Mushroom Stew.</a> End your meal with a cup of wild mushroom stew to keep your guest warm for her journey home.</li>
</ul>
<div>Erica Bellman is a Ancestry Content Writer at 23andMe. She writes content for 23andMe&#8217;s Ancestry product, surfacing stories that enable customers to better understand their unique results. As a journalist, Erica has interviewed performance artists, indie rock bands, and backcountry skiers. Her favorite author is Haruki Murakami. </div>
<hr />
<a href="#_ftnref1" name="_ftn1">[1]</a> Fabre V et al. (2009). &#8220;Genetic evidence of geographical groups among Neanderthals.&#8221; PLoS One. 4(4):e5151. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664900/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664900/</a>
<a href="#_ftnref2" name="_ftn2">[2]</a> Callaway E. (2011). &#8220;Ancient DNA reveals secrets of human history.&#8221; Nature. 476(7359):136-7. <a href="https://www.nature.com/news/2011/110809/full/476136a.html">https://www.nature.com/news/2011/110809/full/476136a.html</a>
<a href="#_ftnref3" name="_ftn3">[3]</a> Kolodny O et al. (2017). &#8220;A parsimonious neutral model suggests Neanderthal replacement was determined by migration and random species drift.&#8221; Nat Commun. 8(1):1040. <a href="https://www.nature.com/articles/s41467-017-01043-z">https://www.nature.com/articles/s41467-017-01043-z</a>
<a href="#_ftnref4" name="_ftn4">[4]</a> El Zaatari S et al. (2016). &#8220;Neandertal versus Modern Human Dietary Responses to Climatic Fluctuations.&#8221; PLoS One. 11(4):e0153277. <a href="http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277">http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277</a>
<a href="#_ftnref5" name="_ftn5">[5]</a> D&#8217;Anastasio R et al. (2013). &#8220;Micro-biomechanics of the Kebara 2 hyoid and its implications for speech in Neanderthals.&#8221; PLoS One. 8(12):e82261. <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082261">http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082261</a>
<a href="#_ftnref6" name="_ftn6">[6]</a> Weyrich LS et al. (2017). &#8220;Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus.&#8221; Nature. 544(7650):357-361. <a href="https://www.nature.com/articles/nature21674">https://www.nature.com/articles/nature21674</a>
<a href="#_ftnref7" name="_ftn7">[7]</a> Stringer CB et al. (2008). &#8220;Neanderthal exploitation of marine mammals in Gibraltar.&#8221; Proc Natl Acad Sci U S A. 105(38):14319-24. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567146/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567146/</a>
<a href="#_ftnref8" name="_ftn8">[8]</a> El Zaatari S et al. (2016). &#8220;Neandertal versus Modern Human Dietary Responses to Climatic Fluctuations.&#8221; PLoS One. 11(4):e0153277. <a href="http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277">http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277</a>
<a href="#_ftnref9" name="_ftn9">[9]</a> Gowlett JA. (2016). &#8220;The discovery of fire by humans: a long and convoluted process.&#8221; Philos Trans R Soc Lond B Biol Sci. 371(1696). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874402">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874402</a>

Six Things to Serve Your Neanderthal Guest for Thanksgiving

In a first-of-its-kind study, researchers at 23andMe found a link between the susceptibility for some of the most common infectious diseases and dozens of specific variants in genes involved in the body’s frontline immune response system.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25703" src="https://blog-api.23andme.com/wp-content/uploads/2017/09/iStock-174861783-300x200.jpg" alt="" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/09/iStock-174861783-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/09/iStock-174861783-768x513.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/09/iStock-174861783-1024x684.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/09/iStock-174861783-880x588.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/09/iStock-174861783-1180x788.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published today in the journal <a href="https://www.nature.com/articles/s41467-017-00257-5">Nature Communication</a>, the research is unique. Up until now, very few genome-wide association studies (GWAS) have looked specifically at common and non-life threatening infectious diseases. Most have focused on more serious maladies such as HIV, hepatitis, and malaria.
“While these are not as serious as HIV or malaria, they are the most common infections suffered by people and they have a profound impact on human health,” said lead author Chao Tian, Ph.D., a Senior Statistical Geneticist at 23andMe.
<div id="attachment_20934" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-20934" class="wp-image-20934 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-300x300.jpeg" alt="" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-300x300.jpeg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-150x150.jpeg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-768x769.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-1024x1024.jpeg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-880x880.jpeg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-1180x1180.jpeg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-271x271.jpeg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-372x372.jpeg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-574x574.jpeg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/05/Chao-Square-Photo-980x980.jpeg 980w" sizes="auto, (max-width: 300px) 100vw, 300px" />Chao Tian, PhD, a Senior Statistical Geneticist at 23andMe, who is the lead author of the paper.</div>
<h6>Health History</h6>
For this study, Chao and a team of researchers at 23andMe looked at data from more than 200,000 23andMe customers who consented to participate in research and who completed surveys on their health history.
By looking at their history of infections and infection-associated procedures, as well as running GWAS  on those conditions, the researchers were able to identify relationships between host genes and common infections.
The conditions that they found associations for include chickenpox, shingles, cold sores, mononucleosis, mumps, hepatitis B, strep throat, <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>, yeast infections, urinary tract infections, tonsillectomy and childhood ear infections, to name a few.
<h6>Associations</h6>
In all, more than 50 genetic variants were found that were associated with 23 common infectious diseases. The study also revealed important roles of specific amino acid mutations at the antigen-binding site of human leukocyte antigen (HLA) genes. The HLA genes are the hundreds of genes on chromosome 6 that regulate the body&#8217;s immune system.
Each individual’s HLA response is expressed slightly differently as it discerns whether something is an invading pathogen, like a virus or bacteria. That difference can have an impact on an individual’s susceptibility to infectious diseases.
<h6>Different HLA Regions</h6>
The study found that the associations map to different HLA regions. These differences depend on whether the infectious disease is caused by a virus, as with shingles, or if it was induced from bacteria, as with <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>.
Previous research  has found associations between HLA systems and some individual diseases. Among those studies was one <a href="http://stm.sciencemag.org/content/9/389/eaai8708">published in May</a> by researchers at Vanderbilt University Medical Center (VUMC) and the University of Arizona College of Pharmacy.
The study used electronic health records and genetic information from about 28,000 people. By combing this information the study found associations between HLA regions and certain autoimmune diseases such as type 1 diabetes and rheumatoid arthritis. However, there have been very few studies of this type, and this new research from 23andMe is the first to look at common infections.
Read the full paper in Nature Communications <a href="https://www.nature.com/articles/s41467-017-00257-5">here</a>.

Study Finds Genetic Links for Vulnerability to Common Infectious Diseases

<img loading="lazy" decoding="async" class="alignright wp-image-5318 size-medium" title="08D-5313-0" src="http://35.88.189.111/wp-content/uploads/2009/11/arthritishands-300x199.jpg" alt="An image of the hands of an elderly person trying to unscrew a medicine bottle." width="300" height="199" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/11/arthritishands-300x199.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/11/arthritishands.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Rheumatoid arthritis is a common autoimmune disease. An individual&#8217;s own immune system attacks the lining of the joints, causing stiffness and muscle aches. Like other autoimmune diseases, development of rheumatoid arthritis is likely caused by a complex combination of genetic and environmental factors. Research into the genetics of the disease has identified many of the genetic factors. Studies continue to implicate additional variants that may influence risk.
<h6>Genetic Associations</h6>
A pair of such studies published in Nature Genetics found several genetic variants associated with rheumatoid arthritis.
In Japan, a team led by Yuta Kochi and Kazuhiko Yamamoto from the RIKEN Center for Genomic Medicine <a href="https://dx.doi.org/10.1038/ng.583">identified a variant</a>, associated with rheumatoid arthritis risk. The study included over 2,000 Japanese individuals with the disease and 3,400 individuals free of the disease.
The <a href="https://dx.doi.org/10.1038/ng.582">second study</a>, headed by Eli Stahl and Robert Plenge at Brigham and Women&#8217;s Hospital in Boston, confirmed the same association. This second study was done in over 10,000 people of European ancestry with rheumatoid arthritis.
<h6>Immune System</h6>
One of the variants is in an area of the genome associated with a risk for Crohn&#8217;s disease. That region contains a gene called CCR6 that is known to be involved in the immune system.
In follow-up experiments, the RIKEN team demonstrated that the different versions of the variant affect the behavior of CCR6. This provides&nbsp;a potential biological explanation for the variant&#8217;s contribution to rheumatoid arthritis risk.
Stahl and his colleagues also found several other genomic regions associated with rheumatoid arthritis in people with European ancestry, some of which had not yet been linked to autoimmune disease.
<div></div>

Rheumatoid Arthritis and Immune System

<img decoding="async" class="alignright size-full wp-image-5641" title="Mycobacterium_leprae" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/Mycobacterium_leprae.jpg" alt="Mycobacterium_leprae" width="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/Mycobacterium_leprae.jpg 489w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/12/Mycobacterium_leprae-293x300.jpg 293w" sizes="(max-width: 489px) 100vw, 489px" />
Leprosy is a chronic, disabling disease caused by a bacterium (Mycobacterium leprae) that infects only humans and armadillos.
The disease affects the skin and peripheral nerves, leading to sores, numbness in the limbs, muscle weakness, and, in severe cases, disfiguring nodules on the skin. Known since biblical times, leprosy was highly stigmatized until the latter part of the 19th century when Norwegian doctor Gerhard Hansen discovered that it was caused by a microorganism.
<h2>Treatment and Prevention</h2>
Although multi-drug therapy has cured millions of people of leprosy in recent decades, hundreds of thousands of new cases still occur per year, mostly in developing countries. Finding a way to eradicate the disease is therefore considered essential for reducing the number of preventable disabilities worldwide.
Because Mycobacterium leprae is specific to humans and cannot be grown in lab dishes, research into factors influencing disease susceptibility and clinical outcomes has been limited. But the host environment, as well as the bacterium itself, can affect the course of the disease; in other words, human genetic factors may play an essential role in determining who is more susceptible to infection.
Since leprosy has been shown to cluster in families, scientists suspect that much of the variability in disease susceptibility and symptoms stems from diversity in individual human immune systems rather than differences between and within strains of the bacteria.
<h2>New Research</h2>
In a new study published today in <a href="http://content.nejm.org/cgi/content/full/NEJMoa0903753">New England Journal of Medicine</a>, researchers report new human genetic factors associated with susceptibility to leprosy in Asians. Led by Fu-Ren Zhang of the Shangdong Academy of Medical Sciences in China and Jian-Jun Liu of the Genome Institute of Singapore, the scientists tested 93 variants across an estimated 50 genes in 3254 Chinese individuals with leprosy and 5955 Chinese individuals without the condition. Their analysis identified seven gene variants to be significantly associated with leprosy.
&#8220;The discovery of these genes is a major breakthrough for research in leprosy and infectious diseases in general and will be significant in the early diagnosis and development of new treatments,&#8221; said Dr. Liu in a <a href="http://www.eurekalert.org/pub_releases/2009-12/afst-lsg121409.php">press release</a>.
The strongest associations were in HLA-DR-DQ, C13orf31, and NOD2. In addition, some of the genetic variants were more strongly associated with a form of leprosy that results in more severe symptoms, known as the multibacillary form. These included NOD2 and the variant in LRRK2.
<h2>Association with Crohn&#8217;s</h2>
Altogether, five of the seven genes identified in the study could be shown to interact biologically in the context of immune response to infection. Two of these five genes, NOD2 and TNFSF15, harbor genetic variants associated with Crohn’s disease. Crohn’s manifests some common features with leprosy at the cellular level, and other researchers have suggested that mycobacterial infection may be a risk factor for Crohn’s. The findings reported by Zhang and Liu and their colleagues provide additional evidence for shared disease mechanisms between Crohn’s disease and leprosy. They may increase the range of treatment options for both conditions.
** This effect is only applicable to the multibacillary form of leprosy. LRRK2 is better known as a susceptibility gene for Parkinson&#8217;s disease (see 23andMe&#8217;s <a href="https://www.23andme.com/health/Parkinsons-Disease/">report</a> on this condition). Interestingly, PARK2, another gene linked to Parkinson&#8217;s, was associated with leprosy in earlier studies. The reason for the connection between Parkinson&#8217;s and leprosy is unclear, though researchers have speculated that some of the same treatments may be effective for both conditions.

Genetic Association Study of Leprosy Yields New Insights into an Ancient Disease

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When it comes to fighting infections, it might seem like the more immune system firepower, the better. But in reality, the body&#8217;s response to bacteria and other invaders is a delicate balancing act. If the response is too little or too late, an infection can become unbeatable. But if the immune system comes on too strong, it may end up doing more harm than good.
New research suggests a genetic variation that arose in the first inhabitants of Europe may have helped them and their descendants hit the immune response sweet spot. These results, published online this week in <a href="https://dx.doi.org/10.1073/pnas.0811273106" target="_blank" rel="noopener">Proceedings of the National Academy of Sciences</a>, may also help scientists better understand sepsis, a state of whole-body inflammation in response to infection that is the <a href="http://content.nejm.org/cgi/content/full/348/16/1546" target="_blank" rel="noopener">tenth leading cause of death</a> in the United States, with an annual cost of nearly $17 billion.
Studies have shown that people who have one copy of a T at in the TIRAP gene are less susceptible to infection with <a href="https://www.ncbi.nlm.nih.gov/pubmed/17322885?ordinalpos=3&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">malaria, tuberculosis, bacteremia and pneumococcal disease</a>. Scientists know that the TIRAP gene encodes a protein involved in helping the body recognize and destroy a broad range of pathogenic bacteria. But what they haven&#8217;t known until now is how might affect this process.
To investigate, Bart Ferwerda of the Nijmegen Institute for Infectious Inflammation and Immunity in the Netherlands and an international team of collaborators infused volunteers with LPS, a toxin found in the outer membranes of some bacteria.   They found that the variant was associated with the release of more pro-inflammatory signaling molecules into the bloodstream in response. The variant occurs at much higher frequencies in people with European ancestry than either Africans or Asians.   According to the authors, this suggests that the mutation didn&#8217;t arise until after the ancestors of East Asians and Europeans had split apart — sometime after the out-of-Africa migration but before the first people moved into Europe about 40,000 years ago.
Traditional thinking is that a person who ends up with high levels of pro-inflammatory signaling molecules in response to an infection is in trouble, because over-inflammation can lead to shock and death. But the authors suggest this may be true only in people who are already suffering from sepsis.   In the initial stages of infection, high levels of pro-inflammatory molecules could actually be very beneficial.
Their theory is that in the harsh environment the ancestors of modern Europeans encountered, those with the variant were more resistant to infections.   But if an infection did set in, their immune responses weren&#8217;t so overzealous that they were at risk for septic shock.

Genetic Variation May Help Immune System Put Up Just The Right Amount Of Fight

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<a href="http://www.lonefrank.dk/" target="_" rel="noopener">Lone Frank</a>, the award-winning Danish science writer, claims to be shy, but I don’t believe her.
There’s nothing reserved about exposing yourself as she’s done in her entertaining and enlightening new book My Beautiful Genome: Discovering Our Genetic Future One Quirk at a Time. (Oneworld Publications, October 2011.)
Frank bears all in a book that is at once about cutting edge genetic science and also about someone on a personal journey of discovery.
&#8220;What is the most interesting subject in the world?” Frank asks. “For all of us, it’s the same thing – ourselves. Me.&#8221;
But Frank, who has a Ph.D in neurobiology, isn’t navel gazing here. She uses herself and her &#8220;quirks&#8221; to delve into the scientific as well as social implications of people having access to their own genetic data. She thinks it&#8217;s a good thing, and although this book is about her, Frank is really asking much broader questions.
&#8220;The past, in its way, was gone. And the future – well, you could see an end to it,&#8221; Frank writes. &#8220;At forty-three, I’d reached the age when the chance of having children was pretty much theoretical.&#8221;
And at this point in her life, she has questions:
&#8220;Where do I come from? Who am I? Am I going to be like my parents? How will I die? And when?&#8221;
Not shallow inquiries at all.
Inquiries like these have driven other great scientific pursuits. As the renowned Oxford evolutionary biologist Richard Dawkins recently told the <a href="https://myaccount.nytimes.com/auth/login?URI=https://www.nytimes.com/2011/09/20/science/20dawkins.html&amp;OQ=Q5fQ72Q3dQ31Q26Q70Q61Q67Q65Q77Q61Q6eQ74Q65Q64Q3dQ61Q6cQ6c" target="_" rel="noopener">New York Times</a>, these are the questions that fuel his work.   &#8220;My interest in biology was pretty much always on the philosophical side. &#8216;Why do we exist, why are we here, what is it all about?'&#8221;
Framing her own journey, Frank begins her book with a quote from Danish artist Asger Jorn – “The only way to be general is to be deeply personal.”
That’s what she’s done here.
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During a call from her home in Denmark, Lone Frank provided the Blog with a few tidbits about her new book My Beautiful Genome.
Frank believes we’re at the dawning of the age of personal genomics. It’s a time that’s not too different from the moment just before the personal computer revolution began 30 years ago.
&#8220;I think what’s most useful is just getting on the bandwagon and becoming engaged with your biology,&#8221; Frank said of genetic testing. &#8220;You learn so much more about who you are.&#8221;
There’s no doubt from her book that she’s all in on the idea. 
The process of looking into her genetics made her “more present in my biology” or simply put – more attuned to her body. 
Your genetics are actually malleable, she said. For Frank this was particularly relevant because of her bouts of depression.
&#8220;It turns out I&#8217;m homozygous for all the bad variants, which makes a lot of sense,&#8221; said Frank. &#8220;But you can turn that around. When I know this is a biological disposition it&#8217;s easier to understand and I can use it to distance myself from stuff when I&#8217;m going down that black hole.&#8221;
Some tend to see genes as a set of fixed instructions. But those instructions and how a gene is expressed &#8212; turned on or off &#8212; are influenced by everything from nutrition, stress, hormones and environmental exposures.
&#8220;It&#8217;s like the black box is getting opened and you&#8217;re seeing how your genes and the environment determine whether you get a disease or not,&#8221; Frank said.
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One reviewer called Frank&#8217;s book a bit &#8220;masochistic&#8221; for her frankness about her bouts of depression, her family&#8217;s history of suicides and her own psyche. But there&#8217;s a purpose to her over-sharing. In a world where consumers are increasingly getting access to their own genetic data,  Frank turns to genetics for answers about her ancestry, her traits and her risks for diseases. And she uses it to delve into difficult questions about her prickly personality.
In one of the many wry and offhand comments in the book she responds to a researcher&#8217;s insight into her harsh judgment of others with the thought,  &#8220;Give me a break. Doesn&#8217;t the man realize how stupid other people can be?&#8221;
The book tracks both a personal and a physical journey. As any good journalist would, Frank travels to the source, manifested here by visiting genetics pioneer  <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/watson-bio.html" target="_" rel="noopener">James Watson</a> at Cold Spring Harbor Laboratory. Watson, who with <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/index.html" target="_" rel="noopener">Francis Crick</a> discovered the structure of DNA, has his own personality &#8220;quirks&#8221;, highlighted publicly through some boorish opinions about women, Africans and overweight people. But Frank bypasses this for a chance to get some insight from him about where the study of genetics is going.
Watson sends her off with two ideas: that &#8220;missing heritability&#8221; – the Holy Grail of genetics  – will be found in rare genetic variants that arise not from the genes you inherit from your parents but through mutations that arise through illnesses and environmental factors; and that &#8220;If you want to know something about your genome, you have to have a lot of eyes on it.&#8221;
Frank takes this last bit of advice to heart. She uses several direct-to-consumer genetics services to learn about her ancestry, health and traits. She meets with a series of innovators in the personal genomics industry. There&#8217;s a conversation with <a href="https://www.23andme.com/">23andMe</a> co-founder Linda Avey, and deCODE Genetics&#8217;s Kari Stefansson. She gets some time with Harvard’s <a href="http://arep.med.harvard.edu/gmc/" target="_" rel="noopener">George Church</a> of the Personal Genome Project and <a href="http://www.nationalgeographic.com/field/explorers/spencer-wells/" target="_" rel="noopener">Spencer Wells</a> of the National Geographic Society&#8217;s &#8220;Genographic Project.&#8221;
Frank also submits to a study by University of Copenhagen researchers doing experimental work about the genetics around personality. For Frank it isn’t pretty.
&#8220;Your agreeableness couldn’t be lower,&#8221; they conclude. &#8220;Then there is your low score on altruism and sympathy.&#8221;
She talks to researchers using genetics to determine the effectiveness of medicines, and delves into whether her Danish ancestry might include a long lost Spaniard. She learns of her risks for breast cancer and peripheral arterial disease. And she dives into how her genetics may influence her propensity toward depression.
In the end Frank finds the process freeing. Genetics isn&#8217;t her destiny, she says.
&#8220;My genome is not a straitjacket but a soft sweater to fill and shape, to snuggle up and stretch out in,&#8221; Frank says. &#8220;So who am I? I am what I do with this beautiful information that has flowed through millions of years through billions of organisms and has, now, finally been entrusted to me.&#8221;
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