Welcome to the 23andMe Museum &#8211; home to exhibits where some of our customers share what they discovered thanks to 23andMe, from ancestry to health to wellness. 



Take a look around the museum and see what you might be able to learn with 23andMe, too.



<iframe loading="lazy" src="https://player.adventr.io/index.html?link=https%3A%2F%2Fd252srr1zuysk4.cloudfront.net%2Fclients%2F4475%2F13254%2Fpublished%2F4475-23andme-museum-06127507.data&#038;initial=v3-openingbuilding-ygoo" width="6400px" height="360px" frameborder="0" scrolling="no" allowfullscreen allow="autoplay; fullscreen; clipboard-read; clipboard-write; encrypted-media; geolocation; microphone; web-share"></iframe>



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



Find out more about what 23andMe has to offer and the differences between our services <a href="https://www.23andme.com/compare-dna-tests/">here</a>.  



<h6 class="wp-block-heading" id="h-share-your-story">Share Your Story</h6>



Have your own 23andMe story to share? You can submit it <a href="https://www.23andme.com/stories/#form">here</a>!

An image of the opening card for the 23andMe Museum interactive video

Explore the Virtual 23andMe Museum

Have you ever wondered how to get started with 23andMe? 



Check out this interactive game and learn just how easy it is to submit your DNA sample. From selecting your kit to providing your saliva sample and sending it off to our labs to be processed.



<h6 class="wp-block-heading" id="h-it-s-so-easy">It’s so easy!</h6>



<div style="padding-bottom: 56.25%; position: relative; height: 0; overflow: hidden; max-width: 100%;"><iframe src="https://player.adventr.io/index.html?link=https%3A%2F%2Fd252srr1zuysk4.cloudfront.net%2Fclients%2F4475%2F12895%2Fpublished%2F4475-it-s-so-easy-23andme-interactive-game-60365084.data&#038;initial=v2-10-opening-j9hc" frameborder="0" scrolling="no" allowfullscreen="" allow="autoplay; fullscreen; clipboard-read; clipboard-write; encrypted-media; geolocation; microphone" style="position: absolute; top: 0; left: 0; width: 100%; height: 100%;"></iframe></div>

An image of video for 23andMe it's so easy, that is an interactive game

23andMe, It’s So Easy

In the interest of clarity and transparency, 23andMe has made some improvements to its <a href="https://www.23andme.com/legal/privacy/">Privacy pages</a>. We’re really excited to share the details of the changes in the Privacy Statement in particular. 
We’ve simplified the language within our Privacy Statement, Terms of Service, and other legal documents with the goal of making them easier to understand and more accessible. 
These improvements don’t change the substance of our Privacy Statement (or Terms of Service); instead, they simplify how we communicate the ways in which your data is stored, used, and protected at 23andMe, or how you can use the Services. We encourage you to take a look, but below is a short overview of some highlights.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="524" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1024x524.jpg" alt="" class="wp-image-29797" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1024x524.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-300x154.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-768x393.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-880x451.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1180x604.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide.jpg 1562w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>What You’ll Find</h6>
The new Privacy Statement <a href="https://www.23andme.com/privacy/">landing page</a> offers a hub from which it is easy to quickly find and navigate to specific areas of privacy, whether you want to learn how 23andMe handles <a href="https://www.23andme.com/about/cookies/">cookies</a> or <a href="https://www.23andme.com/about/biobanking/">biobanking</a>, or how we comply with <a href="https://www.23andme.com/about/california-privacy/">California consumer privacy laws</a>.
The Privacy pages also highlight some of the privacy-related choices a customer can make and what each of those choices means. For example, we explain what choices you have regarding the storage of your biological sample, participation in features like DNA Relatives, or participation in 23andMe’s groundbreaking Research program.
Those decisions are all up to the customer (you!). That’s because transparency and choice are the cornerstones of our privacy commitment to you.
<h6>Going Long or Going Deep</h6>
Some of us want to spend a long time and read through everything, while others just want the highlights. These new pages honor both of those choices.
Each section has a short and clear overview and, where relevant, links to full policies or documents that contain more detail. We’ve also broken up the topics in the left-hand navigation bar into subjects we believe customers care most about, such as the types of data we collect, who we share it with, or what it means to consent to Research. 
And each page is designed to make it visually easier to find things, including noting where to go to change your privacy settings or delete your account entirely if that’s what you want to do.
&nbsp;

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="380" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1024x380.jpg" alt="" class="wp-image-29798" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1024x380.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-300x111.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-768x285.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-880x327.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1180x438.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530.jpg 1556w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Defining Certain Words</h6>
Simplifying language is important and we did a lot of that in creating these new pages, but some privacy-related terms are still not words we use every day.
That’s why we’ve added explanations about different terms with visuals.
So, when we mention “Personal Information,” we explain what it means in the context of privacy. Personal Information refers to data that personally identifies you. And we explain the difference between “individual-level data” versus “de-identified data” in writing and visuals. We also explain what  “aggregate information” means in the same way. 
<h6>Part of Our DNA</h6>
At 23andMe, privacy is in our DNA. It’s part of everything we do. These updates are meant to make it easier to understand and learn about how we protect and secure our customers&#8217; data every day.
Find out more <a href="https://www.23andme.com/privacy/">here</a>.

An image of a lock a computer, DNA and a mobile phone representing security protections.

Privacy Simplified

Starting this week, our premium annual membership service, 23andMe+ Premium, will be available widely to consumers in the UK and Canada who are interested in exploring a little deeper into what their DNA says about their health and finding ways to research their ancestry faster and more efficiently. 
Previously 23andMe+ Premium had been available in the UK and Canada only to existing Health + Ancestry Service customers on our V5 chip.  As in the US, consumers in the UK and Canada can now purchase a bundle that includes our Health + Ancestry Service with a 1-year prepaid 23andMe+ Premium membership.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="816" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-1024x816.png" alt="" class="wp-image-29583" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-1024x816.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-300x239.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-768x612.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-880x702.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864.png 1070w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Premium Content</h6>
In addition to the more than 150 reports Health + Ancestry Service customers already receive, 23andMe+ Premium membership offers members exclusive access to additional premium reports and features delivered throughout the year. These additional benefits give members a way to go deeper into their health.
This premium content includes Pharmacogenetics reports,* which can help you learn about how your DNA may impact the way your body processes certain medications; genetic reports Powered by 23andMe Research, which can provide insight into  your likelihood of developing conditions like high blood pressure, atrial fibrillation, and migraines; as well as enhanced ancestry features including advanced filtering and access to more DNA relatives.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="1024" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1024x1024.png" alt="" class="wp-image-29650" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1024x1024.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-300x300.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-768x768.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-880x880.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1180x1180.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-271x271.png 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-372x372.png 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-574x574.png 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-980x980.png 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1.png 1500w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Find Out More</h6>
Existing Health + Ancestry Service customers on our V5 chip can join 23andMe+ Premium membership for an annual price of $39 in Canada or £19 in the UK.
Not yet a customer?
Find out more about discounted 23andMe+ Premium membership Bundle pricing <a href="https://www.23andme.com/en-ca/compare-dna-tests/">here</a> or customers in Canada or <a href="https://www.23andme.com/en-gb/compare-dna-tests/">here</a> for those in the UK.
With more genetic reports, more health insights, and more features, we hope 23andMe+ Premium gives individuals the choice to help them discover even more about themselves to keep fueling their health journeys. Health is in our DNA.
<hr />
*The 23andMe PGS test uses qualitative genotyping to detect 6 variants in 3 genes 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. Results should be confirmed in a clinical setting with independent genetic testing 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 a complete list of the 6 variants tested, visit <a href="https://permalinks.23andme.com/pdf/pgt_product_info_page_21jan2020.pdf">Pharmacogenetics Important Test Information</a>.

Going Deeper with 23andMe+ Premium 

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 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

Each year from September 15–October 15, National Hispanic Heritage Month celebrates the histories, cultures, and contributions of people from Spain, Latin America, and other Spanish-speaking communities. To mark the occasion, we’re highlighting a remarkable ancient DNA study from Las Gobas, a medieval site in northern Spain that sheds new light on life in early Iberia, which comprises present-day Spain and Portugal.



<h2 class="wp-block-heading" id="h-setting-the-scene-iberia-in-the-early-medieval-period">Setting the Scene: Iberia in the Early Medieval Period</h2>



From the 5th to 8th centuries CE, Iberia was ruled by the Visigoths, a Germanic people who established power after the fall of the Western Roman Empire. In 711 CE, their kingdom collapsed after the Umayyads—an Islamic dynasty with roots in Arabia and North Africa—invaded and established the Emirate (and later the Caliphate) of Córdoba. This new state controlled much of Iberia, along with the Balearic Islands and parts of North Africa.



In the mountainous north, however, many communities retained their independence and Christian traditions, even as the rest of the Iberian peninsula underwent profound cultural and political change.



<h2 class="wp-block-heading" id="h-life-at-las-gobas">Life at Las Gobas</h2>



Las Gobas, located in today’s province of Burgos in northern Spain, consists of 13 rock-cut caves and several freestanding structures. Beginning in the 7th century, it served as a mixed-use settlement with homes, a Christian church, and a cemetery. By the late 9th century, the residential area was abandoned, but the site continued to be used as a burial ground and place of worship until the 11th century.



<a href="https://pubmed.ncbi.nlm.nih.gov/39196943/" target="_blank" rel="noreferrer noopener">In 2024</a>, researchers analyzed DNA from 33 individuals buried at Las Gobas. They discovered that the community’s ancestry remained surprisingly stable over the centuries, with little evidence of genetic influence from the Islamic expansion that reshaped much of Iberia.



Why was Las Gobas different? Their DNA offered a clue. Many individuals carried stretches of identical DNA inherited from both parents—patterns that often occur in small, insular populations with limited outside contact. This genetic isolation likely helped shield the community from broader population shifts happening elsewhere.



The study also revealed striking details about life at Las Gobas:



<ul class="wp-block-list">
<li>Inbreeding: The DNA of several individuals showed evidence that their parents were close relatives; likely first cousins or closer.</li>



<li>Disease: DNA evidence showed infections from multiple pathogens, including what may be one of the earliest documented cases of smallpox in northern Iberia.</li>



<li>Violence: Skeletal remains showed signs of traumatic injuries, likely from swords—evidence of interpersonal conflict or warfare.</li>
</ul>



Taken together, the findings paint a vivid—and sometimes harsh—picture of life more than a thousand years ago in a small, tightly knit community in northern Spain.



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



Want to see if you share a genetic connection with these newly added individuals from Las Gobas—or hundreds of other historical people? The <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature is available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members.

New Historical Matches Could Connect You to the Medieval Iberian Site of Las Gobas

<a href="https://blog.23andme.com/articles/ancestry-composition-version-7-is-here" target="_blank" rel="noreferrer noopener">This update</a> is currently available to all eligible customers on the latest, V5, genotyping chip.



23andMe’s flagship Ancestry Composition algorithm was last updated in 2022, when three new reference populations were added in China. Since then, the 23andMe Ancestry Team has focused on improving the specificity of reference populations and updating the methods underlying this state-of-the art algorithm. The result? More specificity and accuracy in the ancestry breakdowns we provide.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="508" src="http://35.88.189.111/wp-content/uploads/2025/09/Ac-omega-map-correc-1024x508.png" alt="" class="wp-image-34246" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-1024x508.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-300x149.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-768x381.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-880x437.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-1180x585.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The project, Version 7 of Ancestry Composition, is the most significant update to the feature ever.



<h2 class="wp-block-heading" id="h-improved-algorithm-expanded-populations-better-results">Improved algorithm, expanded populations, better results</h2>



Over the last few months, we’ve been hard at work finalizing the details on this major update to your favorite report: Ancestry Composition.&nbsp;



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="499" src="http://35.88.189.111/wp-content/uploads/2025/09/image-3-1024x499.png" alt="" class="wp-image-34237" style="width:537px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-1024x499.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-300x146.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-768x374.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-880x429.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-1180x575.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Here’s what we&#8217;ve been working on:



<ul class="wp-block-list">
<li>Better breakdowns in Europe and the Americas: Thanks mainly to consented 23andMe research participants we&#8217;ve been able to expand the number of unique populations in our reference datasets. Reference datasets are collections of DNA samples from people with deep roots in a specific part of the world. It&#8217;s what is needed to compare each piece of your DNA to in order to determine where in the world that DNA most likely came from. What this means is we’re launching with nearly four times the resolution in Europe and six new populations in the Americas. We also took the opportunity to refine reference datasets from around the world, making them more specific to each global population.</li>



<li>Enhanced Accuracy: The accuracy of these new ancestry results are greatly improved by using our <a href="https://www.cell.com/hgg-advances/fulltext/S2666-2477(25)00082-X" target="_blank" rel="noreferrer noopener">recently published</a>, state-of-the-art DNA phasing method. You could think of phasing as sorting which DNA you inherited from each parent. Reducing errors in phasing means a more accurate estimate of your ancestry percentages and better <a href="https://customercare.23andme.com/hc/en-us/articles/212860507-Chromosome-Painting-23andMe-Ancestry-Results" target="_blank" rel="noreferrer noopener">DNA Painting</a>.&nbsp;</li>



<li>Elimination of Broadly and Unassigned DNA: We are updating our algorithm to report the most likely assignment for a given stretch of DNA rather than at a fixed confidence threshold. This will have the benefit of eliminating &#8220;Broadly&#8221; and &#8220;Unassigned&#8221; categories in the default results view. You will still be able to view your results at different confidence thresholds in the Version History section.</li>



<li>Better Error Detection: We&#8217;ve upgraded our smoother to better filter out erroneous trace ancestries between two larger blocks of ancestry. See our <a href="https://www.23andme.com/ancestry-composition-guide/" target="_blank" rel="noreferrer noopener">Ancestry Composition Guide</a> for more information about the current smoother.</li>



<li>Version History: Compare your new results to your old ones in a new &#8220;Version History&#8221; section. <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members will also be able to access previous versions at different confidence settings.</li>
</ul>



<h2 class="wp-block-heading" id="h-what-are-the-new-reference-populations-nbsp">What are the new reference populations?&nbsp;</h2>



<ul class="wp-block-list">
<li>33 new ancestry populations in Europe are coming: Albanian &amp; Macedonian; Andalusian, Asturian &amp; Castilian; Aragonese &amp; Catalan; Austrian &amp; Southern German; Basque; Belarusian, Polish &amp; Ukrainian; Belgian, Rhinelander &amp; Southern Dutch; Bosnian, Croatian, Montenegrin &amp; Serbian; Bulgarian, Moldovan &amp; Romanian; Canary Islander; Czech, Hungarian, Slovak &amp; Southern Polish; Danish; Dutch &amp; Northern German; English; Estonian; Finnish; French; Greek; Icelandic; Irish; Kosovar &amp; Northern Albanian; Latvian; Lithuanian; Maltese; Northern Italian; Norwegian; Portuguese &amp; Galician; Russian; Sardinian; Scottish; Slovenian; Southern Italian; Swedish; Swiss, Southwestern German &amp; Western Austrian; Welsh</li>
</ul>



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="840" src="http://35.88.189.111/wp-content/uploads/2025/09/europe_map-1024x840.png" alt="" class="wp-image-34262" style="width:523px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-1024x840.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-300x246.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-768x630.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-880x722.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map.png 1101w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<ul class="wp-block-list">
<li>Indigenous American will be broken into 6 new ancestry populations: Arctic North American, Central Andean &amp; Amazonian, North American, Northern Andean, Southern Mesoamerican, and Western North American</li>
</ul>



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="562" height="393" src="http://35.88.189.111/wp-content/uploads/2025/09/image-2.png" alt="" class="wp-image-34236" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-2.png 562w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-2-300x210.png 300w" sizes="auto, (max-width: 562px) 100vw, 562px" /></figure>



<h2 class="wp-block-heading" id="h-your-dna-story-now-clearer-across-time-place-and-family">Your DNA story, now clearer across time, place, and family</h2>



These updates, drawn from sharper science and richer data, power everything you use to explore your ancestry, including Ancestry Timeline, Parental Inheritance, DNA Painting, and more. This builds on the world’s most comprehensive ancestry breakdown on the market with over 4,000 regions, helping you experience the life-changing power of DNA by tracing where your ancestors lived and what they passed on to you.



Ancestry Composition, Version 7. More precision. More connection. More you.



This is a massive project for us and a chance to get back to our roots by digging deeper into yours. We’re thrilled you’re as excited as we are.



The 23andMe Ancestry Team

A Major Update to Ancestry Composition

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

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

The Bad Driving Gene?

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2857" title="bloodclot" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/bloodclot.jpg" alt="bloodclot" width="324" height="240" />
A new report in the <a href="http://jama.ama-assn.org/cgi/content/full/302/8/849?home" target="_blank" rel="noopener noreferrer">Journal of the American Medical Association</a> adds to the mounting evidence that genetic variations impact the efficacy of clopidogrel (Plavix ®), a drug used to prevent blood clots in people who have had a heart attack or stroke and also those with peripheral artery disease and unstable angina.
<h6>Drug Response</h6>
Previous research has shown that certain variations in the CYP2C19 gene prevent the body from converting clopidogrel into its active form. That reduces the amount of anti-clotting effect people get from the medication, increasing their risk for heart attacks, strokes and death from cardiovascular causes.
(23ndMe customers can learn how their data fits in with this research in a previous <a href="https://blog.23andme.com/2008/12/23/snpwatch-genetic-variants-may-reduce-ability-of-anti-clotting-drug-clopidogrel-to-prevent-a-second-heart-attack/" target="_blank" rel="noopener noreferrer">Blog</a> post or in the Clopidogrel Efficacy Drug Response Report.)
The researchers, led by Alan Shuldiner of the University of Maryland School of Medicine, determined that BMI, lipid levels and age account for about 10% of the variation in clopidogrel&#8217;s ability to prevent blood clotting. Variation in the CYP2C19 gene accounted for another 12%, meaning that other factors, probably both genetic and non-genetic, are also at work.
<h6>CYP2C19</h6>
For patients whose genetics may reduce the benefits of clopidogrel treatment, there are other options. Prasugrel (Effient ®) was recently approved by the FDA and appears not to be affected by the same variations that impact clopidogrel efficacy, although there are some concerns about bleeding caused by this drug.   Several other drugs (ticagrelor, cangrelor, elinogrel) that could be used for clotting reduction in place of clopidogrel are currently in clinical trials.
Clinical trials have not yet been conducted to show if identifying people with variants of the CYP2C19 before prescribing clopidogrel actually improves health outcomes.   If such studies do show a benefit and this type of testing becomes routine, people with these variants might be steered away from clopidogrel by their doctors, which would seem to be a boon for the makers of newer medications.
<h6>Genetic and Non-Genetic Factors</h6>
But in an editorial accompanying the study in JAMA, <a href="http://jama.ama-assn.org/cgi/content/extract/302/8/896" target="_blank" rel="noopener noreferrer">Deepak Bhatt</a> suggests that testing for these variations would also allow physicians to know for whom clopidogrel will work (probably). This would be an important piece of information considering that the patent on clopidogrel is set to expire in <a href="https://www.reuters.com/article/rbssHealthcareNews/idUSN1843632020090818" target="_blank" rel="noopener noreferrer">2011</a>, so cheaper generic forms of the drug will be available then.
&#8220;Although such testing currently is expensive, the cost will decrease and hopefully will coincide with supportive data.   Furthermore, if such testing allowed use of a less expensive generic anitplatelet drug,&#8221; he writes. &#8220;The test might essentially pay for itself.&#8221;

More Evidence that Genetics Can Reduce the Efficacy of Anti-Clotting Medication Clopidogrel

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2759" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/heartman.jpg" alt="heartman" width="350" height="260" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/heartman.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/heartman-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Researchers have identified a genetic variant that increases risk of atrial fibrillation (AF), an electrical disorder of the heart, which in turn increases risk of stroke.
AF affects one in four people over 40 years old, and stroke is the third leading cause of death in the United States.
In one of two studies, scientists scanned the genomes of 5,806 people from the United States, Iceland and Norway to look for genetic variations associated with AF. The other study combined data from several large studies comprising almost 47,000 people of European ancestry.

Their results, published online this month in Nature Genetics, newly linked one SNP to slightly elevated risk for developing AF in European populations.
Most strokes are caused by a blood clot that blocks circulation to the brain. Because AF causes ineffective beating of the heart, blood can pool and clot in the upper chambers, resulting in stroke if a clot leaves the heart and lodges in the brain. AF increases the risk of stroke four to five times across all age groups and is the cause behind 10 to 15 percent of all blood clot-related strokes.
In the first study, Gudbjartsson et al. studied people of European descent from the United States, Iceland and Norway to reveal that the T version of   a SNP on chromosome 16, is associated with 1.21 times increased odds of AF. This SNP was also associated with 1.11 times increased odds of ischemic stroke and 1.22 increased odds for cardioembolic stroke.
In the second study, Benjamin et al. associated AF with another SNP. Both SNPs are likely to be marking a third genetic variation that actually has a functional effect on AF. Further research will be necessary to identify both the variation and its effect.
Gudbjartsson et al. also assessed the association of AF with the T version of in more than 3,000 Han Chinese, but the association was not significant. They noted that the T allele of this SNP is much more frequent in Han Chinese than in European populations.

Genetic Variation May Increase Risk of Atrial Fibrillation And Stroke

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3370" title="alzheimers" src="https://blog-api.23andme.com/wp-content/uploads/2009/04/alzheimers.jpg" alt="" width="341" height="243" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/04/alzheimers.jpg 435w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/04/alzheimers-300x214.jpg 300w" sizes="auto, (max-width: 341px) 100vw, 341px" />
Researchers have identified a genetic variation that may raise the risk for stroke by affecting brain cells’ ability to respond to injury.
Stroke is the third leading cause of death in the United States, striking <a href="http://www.strokeassociation.org/STROKEORG/AboutStroke/Impact-of-Stroke_UCM_310728_Article.jsp" target="_blank" rel="noopener">almost 800,000</a> people each year. High blood pressure, high cholesterol, smoking, diabetes, obesity and a history of cardiovascular disease can all increase the risk of having a stroke, but studies of families and twins indicate that genes play a substantial role too.   So far, however, the genes underlying stroke risk in the general population remain undetermined.
Scientists combined data from several large studies comprising almost 29,000 people from the United States and the Netherlands to look for genetic variations associated with stroke risk. Their results, published online today in the <a href="http://content.nejm.org/cgi/content/full/NEJMoa0900094" target="_blank" rel="noopener">New England Journal of Medicine</a>, link a region of the genome not previously associated with stroke to increased risk in both black and white populations.
Strokes can be either hemorrhagic (caused by a broken blood vessel that bleeds into or around the brain) or ischemic (caused by a blood clot that blocks blood flow to the brain). Most strokes are the ischemic type.
Combined analysis of data from Caucasian study participants from the United States and the Netherlands revealed that the A version of this SNP is associated with a 1.29 times increased risk of ischemic stroke.   The SNP was also associated with an increased risk for ischemic stroke in a large African American study group — 1.42 times for each copy of an A.   Analysis of a smaller group of African Americans failed to yield a significant association between and stroke.
The risk of stroke is almost doubled for African Americans compared to white Americans, and African Americans are more likely to die from stroke or complications from stroke than any other ethnic group. This SNP is located near the NINJ2 gene, which encodes a protein that has been implicated in nerve cell injury response in animal studies.   Several other SNPs in and around the NINJ2 gene showed modest association with stroke. The authors of the study suggest that SNPs affecting how much protein is made from the NINJ2 gene might influence the brain&#8217;s response when deprived of oxygen by a blood clot.

Genetic Variation May Increase Risk Of Stroke

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2838" title="migraine1" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/migraine1.jpg" alt="" width="336" height="239" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/migraine1.jpg 435w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/migraine1-300x214.jpg 300w" sizes="auto, (max-width: 336px) 100vw, 336px" />
For the millions of Americans who suffer from migraines, the risk of throbbing pain that can last for days is plenty to worry about.   But studies have shown that having a propensity for these severe and sometimes disabling headaches can also increase the risk for cardiovascular events such as stroke and heart attack.
In new report published this week in Neurology, researchers using data from the <a href="http://clinicaltrials.gov/ct/show/NCT00000479" target="_blank" rel="noopener">Women’s Health Study</a> suggest that only those women with a specific genetic variation and whose migraines include <a href="http://www.migraine-aura.org/content/e27891/index_en.html" target="_blank" rel="noopener">aura</a>, a type of visual disturbance characterized by flashing lights and patterns, are at increased risk for cardiovascular disease (CVD).
Previous studies have attempted to link both migraines and CVD with a variation referred to as the D/I polymorphism in ACE, a gene that encodes a blood vessel-constricting protein.   Drugs that inhibit the ACE protein are used to treat migraines and CVD.
In a study that included 25,000 women with European ancestry, about 3,200 of whom had migraines, SchÃ¼rks et al. found no association of the D/I polymorphism with the headaches. Over 12 years of follow-up, there were 625 cardiovascular events (mainly strokes and heart attacks) in the group, but again, no association with the D/I polymorphism.
When the researchers took genetics out of the equation, they found that a woman with a history of any type of migraine was about 30% more likely to have CVD.   But when they added genetics back in and also divided the migraneurs (people who get migraines) up based on the presence or absence of aura, they found that only those women who had migraine with aura and also had the DD or DI genotype at the ACE polymorphism were at about two-fold increased risk for CVD.
(23andMe customers can check their data using SNP rs1799752 in the Browse Raw Data feature.   Data for this SNP is available only to those customers who received their data after 9/1/08, or upgraded their accounts since that date.)
Although these results may eventually help scientists understand the exactly how migraine and CVD are related to ACE, a lot of work remains to be done.   The authors themselves warn that larger studies will be needed and that their research did not take into account environmental or other genetic risk factors.   They also note that their study sample was restricted to Caucasian women 45 years old and older, which may mean that their results are not applicable to the population as a whole.   Finally, in both women with and without migraine, the proportion of the different genotypes (DD/DI/II) differed from what would be expected in the population, suggesting that there may have been flaws in the study.

Genetic Variation May Put Some Women With Migraines at Higher Risk For Cardiovascular Disease

<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

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

As many as one in 10 women have endometriosis, but diagnosing it can take up to a decade or more. Dive into the science, and learn a bit about a new 23andMe Endometriosis report that looks at the genetic likelihood of developing this painful condition.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="612" height="252" src="http://35.88.189.111/wp-content/uploads/2025/09/endometriosis_hero-1.jpg" alt="" class="wp-image-34227" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/endometriosis_hero-1.jpg 612w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/endometriosis_hero-1-300x124.jpg 300w" sizes="auto, (max-width: 612px) 100vw, 612px" /></figure>



Have you ever been told your debilitating period pain is &#8220;normal&#8221;? Do you find yourself planning your life around your cycle, canceling plans, or missing work or school due to pain, heavy bleeding, or exhaustion? If so, you&#8217;re not alone; these symptoms could point to endometriosis, a common, yet often misunderstood, condition.



For those with endometriosis, tissue similar to the lining of the uterus grows in other places, like the ovaries, fallopian tubes, or even the bowel and bladder. This can lead to severe pain, heavy periods, and in some cases, may make it harder to become pregnant (between 30–50% of women with endometriosis experience infertility).



If this sounds familiar, it’s important to know that your pain is real and more common than many people think. Endometriosis affects as many as 10% of women in the U.S. Despite this, the journey to a diagnosis can be frustratingly long, sometimes <a href="https://pubmed.ncbi.nlm.nih.gov/39373298/" target="_blank" rel="noreferrer noopener">taking up to 12 years</a>. This delay often happens because symptoms are dismissed as &#8220;just a bad period.&#8221;



To support awareness and help people understand their genetic predisposition to endometriosis, we’ve launched the new Endometriosis* report for female <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ and <a href="https://www.23andme.com/total-health/" target="_blank" rel="noreferrer noopener">Total Health</a>™ members.



<h2 class="wp-block-heading" id="h-what-causes-endometriosis">What causes endometriosis?</h2>



While the exact cause isn&#8217;t known, several factors can increase your likelihood of developing endometriosis:



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="612" height="720" src="http://35.88.189.111/wp-content/uploads/2025/09/Group-125628.png" alt="" class="wp-image-34211" style="width:259px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Group-125628.png 612w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Group-125628-255x300.png 255w" sizes="auto, (max-width: 612px) 100vw, 612px" /></figure>



<ul class="wp-block-list">
<li>Age: It most often affects menstruating people and is frequently diagnosed in the 30s and 40s.</li>



<li>Family history: Having a family member with endometriosis increases risk.</li>



<li>Reproductive history: Starting menstruation at a young age, experiencing menopause later in life, and having frequent or heavy periods (short cycles or bleeding lasting more than 7 days) can all increase chances of developing the condition.</li>
</ul>



These factors are associated with a higher risk. On the other hand, having been pregnant or breastfeeding may reduce risk.



<h3 class="wp-block-heading" id="h-the-genetic-connection">The genetic connection</h3>



Endometriosis is what’s known as a <a href="https://www.genome.gov/genetics-glossary/Polygenic-Trait" target="_blank" rel="noreferrer noopener">polygenic</a> condition — meaning that many different genetic variants in many different genes can influence a person’s chances of developing it. In fact, <a href="https://pubmed.ncbi.nlm.nih.gov/26209831/" target="_blank" rel="noreferrer noopener">research suggests</a> that genetics may explain nearly half of the differences in who develops endometriosis across a population.



In 2023, 23andMe collaborated with researchers at Oxford in what was at the time the largest study on <a href="https://blog.23andme.com/articles/largest-genetic-study-to-date-links-endometriosis-with-chronic-pain" target="_blank" rel="noreferrer noopener">endometriosis and its association with chronic pain</a>. Now, to further understand the genetics of this condition, researchers at 23andMe looked at genetic and self-reported data from more than 1.5 million consented research participants. Using this information, they created a Polygenic Risk Score (PRS) — a model that considers thousands of genetic variants to estimate a person’s likelihood of developing endometriosis.



However, this model did not perform as accurately for 23andMe customers with Black or African American ancestry. Due to this limitation, we cannot provide a result for the Endometriosis report to those customers at this time. This is an important reminder that genetics research has historically underrepresented many communities. With continued research and broader participation, we hope to improve this work and reduce these disparities in the future.



<h2 class="wp-block-heading" id="h-what-you-can-do-about-it">What you can do about it</h2>



While the road to getting a diagnosis and managing endometriosis can be long and frustrating, there are proactive steps you can take on your journey to getting answers and feeling better.



<h3 class="wp-block-heading" id="h-advocate-for-yourself">Advocate for yourself</h3>



Track Your Symptoms. Before you see a doctor, consider starting a symptom diary. Being specific can make a big difference. Every day, note:



<ul class="wp-block-list">
<li>Pain: On a scale of 1–10, where is the pain, and what does it feel like (sharp, dull, cramping)?</li>



<li>Timing: When during your cycle do you feel symptoms? (During your period, during ovulation, all month long?)</li>



<li>Bleeding: How heavy is your flow? Are you passing clots?</li>



<li>Other Symptoms: Note any bloating, painful bowel movements, pain with sex, or fatigue.</li>



<li>Impact: How do these symptoms affect your daily life? (e.g., &#8220;Missed two days of work,&#8221; &#8220;Couldn&#8217;t exercise,&#8221; &#8220;Had to leave the party early.&#8221;)</li>
</ul>



Connect with a Doctor. Armed with your symptom diary, make an appointment with a healthcare provider.



<ul class="wp-block-list">
<li>Be clear and confident. Say, &#8220;I am concerned I might have endometriosis because of these specific symptoms.&#8221;</li>



<li>Don&#8217;t be afraid to ask questions. &#8220;What are the next steps for diagnosis?&#8221; or &#8220;Could we explore treatment options for my pain now?&#8221;</li>



<li>If you feel dismissed, get a second opinion. Look for a gynecologist who specializes in endometriosis or pelvic pain.</li>
</ul>



<h3 class="wp-block-heading" id="h-manage-symptoms">Manage symptoms</h3>



There’s no one-size-fits-all approach, but experts agree that certain lifestyle habits can make a difference:



<ul class="wp-block-list">
<li>Exercise: Activities like yoga can improve blood flow, relax muscles, and reduce pain.</li>



<li>Relaxation and self-care: Rest, warmth on the lower stomach (like a heating pad, warm water bottle, or bath), and gentle movement can help ease discomfort.</li>
</ul>



Medical options may include medications to manage pain and hormone levels, pelvic floor physical therapy, and in some cases, surgery. Because endometriosis tissue can respond to estrogen, symptoms may improve after menopause, when estrogen levels remain consistently low.



<h2 class="wp-block-heading" id="h-take-the-next-steps">Take the next steps</h2>



Endometriosis pain is not an exaggeration, and it deserves to be taken seriously. Seeking answers is the first and most powerful step toward managing your health and reclaiming your quality of life.



Ready to learn more about your health and genetics and take the next step in your journey? Learn more about <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a> or <a href="https://www.23andme.com/total-health/" target="_blank" rel="noreferrer noopener">Total Health</a> memberships.



Already part of 23andMe? <a href="https://you.23andme.com/" target="_blank" rel="noreferrer noopener">Sign in</a> to view this report with your other Health Predisposition reports or upgrade 23andMe+ Premium or Total Health memberships.



* The 23andMe Endometriosis PRS report is based on a genetic model that includes data and insights from 23andMe consented research participants and incorporates more than 13,000 genetic variants to provide information on the likelihood of developing endometriosis. 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 Endometriosis 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. 



NOTE: Within this blog post, we use the words &#8220;women&#8221; and &#8220;female&#8221; to refer to people whose sex assigned at birth is female. However, we recognize that not everyone who experiences endometriosis will identify as female, and being categorized by birth sex may be an uncomfortable experience for some people. 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" target="_blank" rel="noreferrer noopener">help article</a>.

Could Your Painful Periods Be Endometriosis? Here’s What You Should Know

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
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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
</div>



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<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="683" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-683x1024.png" alt="" class="wp-image-34327" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-683x1024.png 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-200x300.png 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-768x1152.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-587x880.png 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-787x1180.png 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image.png 1067w" sizes="auto, (max-width: 683px) 100vw, 683px" /></figure>
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THURSDAY, OCTOBER 16TH 2:30 &#8211; 4:30 PM (Posters; Board #2035T) Explore23: a privacy-forward, secure, extensible, and easy-to-use web application for exploration of a large genomic research cohort



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



<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:33.33%">
<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="819" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-1-819x1024.png" alt="" class="wp-image-34328" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-819x1024.png 819w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-240x300.png 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-768x960.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-704x880.png 704w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-944x1180.png 944w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1.png 1280w" sizes="auto, (max-width: 819px) 100vw, 819px" /></figure>
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<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
FRIDAY, OCTOBER 17TH 2:30 &#8211; 4:30 PM (Posters; Board #3014F) Learning about a genetic predisposition to depression is psychologically well tolerated among those with high polygenic risk scores



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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



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



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



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



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



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



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



<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.



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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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

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

One of 23andMe’s newest scientists, Adam Auton, had his first day on Monday, and by Wednesday had two new <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22941" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/1BfAtIZM_400x400-300x300.jpeg" alt="Adam Auton" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/1BfAtIZM_400x400-300x300.jpeg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/1BfAtIZM_400x400-150x150.jpeg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/1BfAtIZM_400x400-271x271.jpeg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/1BfAtIZM_400x400-372x372.jpeg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/1BfAtIZM_400x400.jpeg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />papers on human genetic variation published in the journal Nature.


Not a bad first week of work.
“It’s been a busy few days,” Adam said.
The research on the papers was not done at 23andMe, of course, but it adds some important tools for scientists working here and elsewhere studying human genetic variation.
The papers actually cap eight years of work by the<a href="http://www.1000genomes.org/"> 1000 Genome Project Consortium</a>, which over that time collected sequence data, exome and other genetic data to catalog genomic differences among people and in turn offer up those reference datasets for researchers studying the genetics of disease, traits and other conditions.

In the end the consortium, which included scientists from all over the world, sequenced the genomes of more than
<div id="attachment_22942" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22942" class="size-medium wp-image-22942" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/nature15393-f1-300x219.jpg" alt="Population sampling illustration from the paper in Nature. This shows the variation within different global populations. African populations have the most variation among all populations in the world." width="300" height="219" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/nature15393-f1-300x219.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/nature15393-f1-768x561.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/nature15393-f1-880x643.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/nature15393-f1.jpg 946w" sizes="auto, (max-width: 300px) 100vw, 300px" />Population sampling illustration from the paper in Nature. This shows the variation within different global populations. African populations have the most variation among all populations in the world.</div>
2,500 people from 26 populations worldwide. The final papers from that effort have just been published, and Adam was senior author of the main study paper. The effort created a new and more robust<a href="https://www.nature.com/nature/journal/v526/n7571/full/nature15393.html"> reference for human genetic variation</a>, and<a href="https://www.nature.com/nature/journal/v526/n7571/full/nature15393.html"> mapped the structural variants</a> among those reference populations. It is now the largest publicly available catalog of human genetic variation in the world.
&#8220;The project has been an international effort to build a reference dataset of genomic variation,” said Adam, who before joining 23andMe was an Assistant Professor of genetics at Albert Einstein College of Medicine in New York City. “It really tells us about the structure of human genomic variation and diversity.&#8221;


Humans are almost 99.9 percent similar genetically, but because the genome is so vast that small genetic variation makes all the difference. Of the roughly 3 billion base pairs, differences are found in somewhere between 4 and 5 million locations. Percentage wise it is very small, but it’s enough to make a big impact, and learning more about where people and populations differ genetically can give us much more insight into the genetics of disease.


The project – more than 400 other scientists also worked in some form on the research – found about 88 million sites in the human genome where there is significant variation. That’s about 40 percent more variants than were previously known in humans, according to the researchers. Many of those sites likely have no significant impact, but others do and they may help researchers looking at both common and rare diseases, as well as other human traits.


For Adam what’s most interesting is what comes next.
It’s now 25 years since the Human Genome Project, but it’s really only in the last five to ten years that we’ve had the robust technologies to truly “do genomics,” Adam said.  
“The 1000 Genome Project has laid the foundation for others to answer really interesting questions.”

A Reference of Human Genetic Variation

<a href="http://www.nlm.nih.gov/medlineplus/ency/article/001450.htm" target="_blank" rel="noopener">Alopecia areata</a> is a form of hair loss many people are unfamiliar with, although the condition affects more than five million people in the United States. &nbsp; Unlike male (or, more rarely, female) pattern baldness, which is thought to be caused by hormones, alopecia areata results from an autoimmune attack on hair follicles. &nbsp; It can lead to the loss of hair on the scalp and elsewhere on the body. &nbsp; Men and women are affected equally.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-3837" title="DNA code analysis" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg.jpg" alt="" width="343" height="227" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/06/atcg.jpg 425w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/06/atcg-300x199.jpg 300w" sizes="auto, (max-width: 343px) 100vw, 343px" />
As is the case for most autoimmune diseases, whether or not a person is affected by alopecia areata is at least partially determined by genetics. &nbsp; But finding the genes responsible for the condition has so far not been very successful. &nbsp; The first genome-wide association study of alopecia areata, however, has yielded a bumper crop of genetic variants associated with the condition. &nbsp; These results, published online today in the journal <a href="https://dx.doi.org/10.1038/nature09114" target="_blank" rel="noopener">Nature</a>, not only shed light on biology behind alopecia areata, but may also guide the development of new treatments.
&#8220;This research is very exciting as alopecia areata affects a huge number of people worldwide, and there are very few treatments for it –resulting in an enormous unmet medical need,&#8221; said Vicki Kalabokes, president and CEO of the National Alopecia Areata Foundation, in a statement.
A team of researchers led by Angela Christiano of Columbia University analyzed the DNA of 1,054 people with alopecia areata and 3,278 controls, all of European ancestry. &nbsp; They found 16 blocks of variation that showed significant association with risk for the condition. &nbsp; Some of the variations the researchers found were, not surprisingly given the autoimmune nature of alopecia areata, in genes involved in the immune system. &nbsp; But others were in genes turned on in the hair follicles themselves.
One of the hair follicle genes identified in the study was ULBP3. &nbsp; This gene encodes a protein that signals to the immune system that a cell is under stress or in danger and should be destroyed for the good of the rest of the body. &nbsp; When the researchers looked at hair follicles under a microscope, they found that follicles from people with alopecia areata had higher than normal levels of ULBP3. &nbsp; They also found that many of the immune cells attacking the follicles expressed NKG2D, the receptor that recognizes and binds to the protein.
More research will be needed to confirm these findings, but Christiano&#8217;s team suggests that in genetically susceptible individuals, increased ULBP3 acts as the initiating factor for the autoimmune response seen in alopecia areata. &nbsp; If this is true, it could open up new avenues of treatment.
Because the symptoms of alopecia areata resemble those of psoriasis, another autoimmune disorder, doctors have tried treating the hair loss condition with the same treatments used for psoriasis. &nbsp; But they have seen little success. &nbsp; This new study shows why — very few of the genes involved in alopecia areata are also linked to psoriasis, suggesting that the diseases don&#8217;t share much similarity at the molecular level.
Many of the alopecia areata genes, however, have been linked to other autoimmune diseases, including <a href="http://www.innovations-report.com/html/reports/medicine_health/report-30261.html" target="_blank" rel="noopener">type 1 diabetes</a>, <a href="http://www.fhcrc.org/about/pubs/center_news/2003/sep4/sart1.html" target="_blank" rel="noopener">rheumatoid arthritis</a> and celiac disease. &nbsp; All of these diseases have also been connected to immune cells expressing the NKG2D receptor. &nbsp; In a statement, Christiano explained that since drugs targeting this receptor are already <a href="http://www.faqs.org/patents/app/20100056764" target="_blank" rel="noopener">in development</a> for these other autoimmune disease, researchers may soon be able to test these same medicines in clinical trials for alopecia areata.
&#8220;Finally, we have the possibility of developing drugs that specifically target the mechanism behind the disease,&#8221; said Christiano.

Genetic Variations Associated with Autoimmune Form of Hair Loss, Alopecia Areata

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5968" title="inuk" src="https://blog-api.23andme.com/wp-content/uploads/2010/02/inuk.jpg" alt="" width="350" height="367" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/02/inuk.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/02/inuk-286x300.jpg 286w" sizes="auto, (max-width: 350px) 100vw, 350px" />Artist&#8217;s impression of Inuk based on genetic analysis 
Nuka Godfredsen/Nature
Editor&#8217;s note: This post has been edited from the original to reflect changes in 23andMe&#8217;s product.
Tufts of hair rescued from the permafrost in Greenland and then tucked away in a basement in Denmark for more than 20 years have given scientists their first glimpse into the genetics of an ancient human.
Eske Willerslev and Morten Rasmussen of the Centre for GeoGenetics at the Natural History Museum of Denmark and the University of Copenhagen, along with an international team of collaborators, have sequenced 80% of the genome of a man from the <a href="http://www.natmus.dk/sw18632.asp" target="_blank" rel="noopener">Saqqaq Culture</a> who walked the earth about 4,000 years ago.   By comparing this ancient DNA sequence to what is known about the genetics of modern humans, the researchers were able to piece together a picture of what the man they call Inuk (&#8220;human&#8221; or &#8220;man&#8221; in Greenlandic) likely looked like, where his people came from, and how he&#8217;s related to modern populations.   The results were published online today in the journal <a href="https://dx.doi.org/10.1038/nature08835" target="_blank" rel="noopener">Nature</a>.
Inuk&#8217;s DNA revealed that he had type A+ blood.   He likely had brown eyes and thick, dark hair.   His skin was probably not the light color found in modern day Europeans.   Inuk&#8217;s earwax was dry and he had shovel-graded front teeth, both characteristics common in Asian and Native American populations.   Several of the genetic variants he carried suggest that he had a metabolism and body mass well-suited to cold climates. The researchers even found that Inuk&#8217;s genetics are indicative of an increased risk of baldness.
&#8220;Because we found quite a lot of hair from this guy, we presume he died quite young,&#8221; Willerslev said in a press briefing.
(Although as Harvard professor and <a href="http://improbable.com/2009/01/12/lfhcfs-members-genome-sequenced/" target="_blank" rel="noopener">Luxuriant Flowing Hair Club for Scientists</a> member Steven Pinker found when analysis of his DNA also suggested a propensity for baldness, DNA is not always destiny.)
Analysis of Inuk&#8217;s <a href="https://www.23andme.com/gen101/graphics/ancestry/" target="_blank" rel="noopener">Y chromosome</a> revealed that his paternal haplogroup is Q1a, which is commonly found among Siberian and Native American populations. <a href="https://dx.doi.org/10.1126/science.1159750" target="_blank" rel="noopener">Previous analysis</a> by the same research group had revealed that Inuk&#8217;s maternal haplogroup, determined by his mitochondrial DNA, is D2a1.   This same lineage is commonly found in modern-day Aleuts of the Commander Islands in the Bering Sea and the Siberian Sireniki Yuits (Asian Eskimos).
Since discovery of the remains of the Saqqaq Culture in the 1950s, there has been disagreement over how these people were related to others that crossed the Bering Strait into the New World.   By analyzing Inuk&#8217;s DNA and comparing it to modern populations, the researchers determined that the Saqqaq are most closely related to the <a href="https://en.wikipedia.org/wiki/Nganasan_people" target="_blank" rel="noopener">Nganasans</a>, <a href="https://en.wikipedia.org/wiki/Koryaks" target="_blank" rel="noopener">Koryaks</a> and <a href="https://en.wikipedia.org/wiki/Chukchi_people" target="_blank" rel="noopener">Chukchis</a> of Siberia.   The long-gone Saqqaqs most likely left Siberia for the New World about 5,500 years ago, independently from the ancestors of present-day Native Americans and Inuit.
Now that his team has shown that full genome sequence analysis of ancient samples is feasible, Willerslev expects that there will be an explosion of work in the field.   He says that sequencing of DNA from South American mummies could help illuminate the population history and genetic diversity of Native Americans from before the arrival of Europeans.   Willerslev also suggests that sequencing ancient human DNA could reveal when certain genetic diseases become prevalent in different populations.

Researchers Use SNP Analysis to Paint Picture of an Ancient Human

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4825" title="iStock_000007840761XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/iStock_000007840761XSmall.jpg" alt="iStock_000007840761XSmall" width="300" height="199" />
For as long as humans have lived in complex communities, cities and civilizations, they have divided and classified their societies. Those divisions have been based on age, gender, appearance or &#8211; in many cases &#8211; occupation. In many traditional societies artisans would share the same social status; as would soldiers, priests and workers in any number of other occupations.
<h6>Social Stratification</h6>
In antiquity, the status of a family rarely changed. If you were a farmer, your sons would be farmers, and so on. While today social status barriers are crumbling in many societies, in others they remain largely unchanged.
India&#8217;s complex social stratification, known as the caste system, has been one of the traditional cornerstones of society. Though urban Indians are shedding the caste labels of their parents and grandparents, many rural Indians &#8211; who make up 72% of the entire population &#8211; hold steadfast to the system. In small villages and towns, the Brahmin caste &#8211; consisting of scholars and priests &#8211; is still revered as one of the highest social strata. And members of the Dalit caste &#8211; formerly known as &#8220;Untouchables&#8221; &#8211; are still viewed as unclean and remain separated from others.
The rigidity of the system still present in rural India has made many wonder exactly how long castes have existed. Historical records are unclear, as early Hindu scriptures like the Bhagavad Gita are somewhat ambiguous when it comes to the topic. Some historians even propose that the caste system as we know it today is largely a construct of the English Colonial Era, arguing that the development of such a system could have been deemed necessary to instill order.
<h6>Genetic Analysis</h6>
Genetic analysis has also proven inconclusive, as analysis of small segments of the human genome has yielded different results. But a new study by geneticist David Reich and colleagues, published in the September 24 issue of <a href="https://www.nature.com/nature/journal/v461/n7263/abs/nature08365.html" target="_blank" rel="noopener">Nature</a>, takes a new approach to understanding the genetic history of India.
The core difference between Reich&#8217;s genetic analysis and previous studies is in the sheer amount of genetic material analyzed. Reich&#8217;s team examined more than 550,000 points across all segments of the human genome. In doing so, they hoped to obtain a more complete picture of Indian genetic history.
The research team analyzed the DNA of 132 individuals from India and neighboring regions, dividing them into 25 distinct groups based on geography, caste and language. They calculated how genetically &#8216;closed&#8217; each of these groups were. In the caste system it is rare to marry someone from another class, making caste societies very closed, or &#8216;endogamous.&#8217; If this endogamy continues over many generations, it will leave a behind a genetic signature for scientists to discover.
Reich and his team found such a signature, indicating a long history of endogamy in several of the groups. In fact, the research team calculated that the DNA of six of the groups can be traced back to just a few individuals who lived anywhere from 30 to more than 100 generations ago. Assuming a generation time of 25 years, that establishes the existence of the caste system in the range of 750 to more than 2,500 years ago – long before the British colonial era.
In a second analysis, Reich and his team examined how ancient migrations could have influenced the formation of castes. First the researchers divided the Indian groups into language families: Indo-European and Dravidian. Dravidian tongues, like Tamil and Malayalam, are mainly spoken in southern India and are believed to be a remnant of languages spoken by some of the earliest inhabitants of the region. Indo-European languages, like Punjabi and Urdu, are more common in the north. They are believed to have arrived with a migration of farmers from southwestern Asia or the Near East about 9,000 years ago.
Reich and his colleagues then compared the genetics of each of the Dravidian and Indo-European groups to a sample of European DNA. The team reasoned that, if Indo-European groups were really descended from the farmers, they would show more genetic similarity to the Europeans than the Dravidians.
Not surprisingly, the authors&#8217; hypothesis held true. The Indo-European speakers, like the Kashmiri Pandit and Vaish, were more genetically similar to Europeans. And because the majority of the upper castes speak Indo-European languages, while the lower ones tend to be Dravidian speakers, there could be a relationship between the arrival of Indo-European people and the formation of caste structure. Further evidence that an ancient caste system has permeated through India for thousands of years.

New Genetic Analysis Sheds Light on Origins of Indian Castes

<img loading="lazy" decoding="async" width="350" height="260" class="alignright size-full wp-image-2914" title="lung_xray" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/lung_xray.jpg" alt="" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/lung_xray.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/lung_xray-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
In the 1950s, a child born with <a href="http://www.23andme.com/topics/carrier/cystic-fibrosis/">cystic fibrosis</a> didn’t have much chance of making it to elementary school.   But now, thanks to a better understanding of the disease and improved treatments, people with cystic fibrosis live well into adulthood.
A person must inherit a mutated copy of the CFTR gene from each parent in order to develop cystic fibrosis.   Hundreds of disease-causing mutations have been documented, and the different mutations and combinations of mutations are known to lead to varying constellations of symptoms and degrees of disease severity.   But even in patients with the same combination of mutations there can be differences in how the disease manifests, suggesting that factors beyond CFTR — either environmental or genetic — are involved.
The results of a new study, published online today by the journal <a href="https://dx.doi.org/10.1038/nature07811" target="_blank" rel="noopener noreferrer">Nature</a>, identify a gene that appears to modulate the severity of obstructive lung disease, the major cause of morbidity and mortality in cystic fibrosis patients.   And paradoxically, although cystic fibrosis lung disease is largely the result of inflammation brought on by repeated bouts of infection, a variation that leads to reduced levels of lung disease seems to make certain immune cells known as neutrophils less effective at fighting infections.
“Neutrophils appear to be particularly bad actors in cystic fibrosis.   They are important to the immune system’s response to bacterial infection.   In cystic fibrosis, however, neutrophilic airway inflammation is dysregulated, eventually destroying the lung,” said the study’s senior author, Dr. Christopher Karp, director of Molecular Immunology at Cincinnati Children’s Hospital Medical Center, in a statement.
The researchers tested the DNA of more than 3,000 people with cystic fibrosis and found that the IFRD1 gene was associated with lung disease severity. Specifically, people having the CT genotype at rs7817 showed worse lung function than people with either two Cs or two Ts at this SNP.
That would suggest a lung function advantage for CF patients with one copy of each version of rs7817. But in laboratory experiments with cells taken from healthy volunteers, a different and more plausible pattern emerged: Each C at rs7817 led to reduced neutrophil activity. This reduced activity may be the link between IFRD1 and lung disease severity in cystic fibrosis patients.
Research in mice supports that view. Mice genetically engineered to lack the IFRD1 gene show less neutrophil activity, further supporting the importance of this gene in controlling the activity of these cells.   When infected with P. aeruginosa, a type of bacteria that often infects the lungs of people with cystic fibrosis, IFRD1-deficient mice were less able to rid their lungs of the bacteria than normal mice.   But, as would be predicted from the results in humans, these mutant mice showed fewer signs of inflammation and were actually healthier than the normal mice.
The researchers reason that variations in IFRD1 that reduce neutrophil activity prevent excess inflammation, and therefore reduce the severity of lung disease. The scientists did not address why patients with two Ts had better, not worse, lung function compared to those with one.
Although they caution that more research will be needed, the authors of the study conclude that, “the current data suggest probable benefit for therapeutic targeting of neutrophils in this devastating disease.   These data also suggest that [IFRD1] may provide a tractable therapeutic target in CF, and other diseases in which neutrophils have an important pathogenetic role.”
(23andMe customers can find out about their data for one of the most common CFTR mutations, Delta F508, in the Carrier Status Clinical Report for cystic fibrosis.   It is important to note that not carrying this mutation does not mean that another mutation is not present.)

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