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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

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



Watch the Highlights: 



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



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



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



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



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



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



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



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



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



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



 #HealthHuddleLIVE #GeneticHealth #CommunityWellness

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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

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

Can You Upload DNA Data to 23andMe? 

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">
<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
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>



<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="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>
</div>
</div>



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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>
</div>
</div>



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



presented by Rebecca Berns, Sr. Product Scientist I, Genomic Health and Sciences
</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="682" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-2-682x1024.png" alt="" class="wp-image-34329" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-682x1024.png 682w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-200x300.png 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-768x1153.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-586x880.png 586w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-786x1180.png 786w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2.png 1066w" sizes="auto, (max-width: 682px) 100vw, 682px" /></figure>
</div>
</div>



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.



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

In the largest genetic study of its kind, scientists have identified more than 200 genes associated with depression that could give new insights to researchers looking for treatments to what is the <a href="https://www.who.int/news-room/fact-sheets/detail/depression">leading cause of disability</a> in the world.
Combining anonymous data from more than two million people who were part of the three different genome-wide association studies on depression, an international team of researchers led by scientists at the University of Edinburgh, identified 269 genes associated with depression.

“These findings are further evidence that depression is partly down to our genetics,” said Professor Andrew McIntosh, of the University of Edinburgh’s Centre for Clinical Brain Sciences, who led the research. “We hope the findings will help us understand why some people are more at risk of depression than others, and how we might help people living with depression and anxiety more effectively in the future.”
Published in journal <a href="https://www.nature.com/articles/s41593-018-0326-7">Nature Neuroscience</a>, the study, which included data from the <a href="https://www.ukbiobank.ac.uk/about-biobank-uk/">UK Biobank</a>, 23andMe, and the <a href="http://www.med.unc.edu/pgc">Psychiatry Genomics Consortium</a>, found that many of the strongest associations were on or near genes involved in neurotransmission and response to stimuli that are part of the central nervous system. And the associations further highlight the importance of studying cortical regions of the brain and their role in the condition, according to the researchers.
Trauma, social factors, and life events all play a role in depression, but by understanding the influence genes have and their role in how an individual responds to those external factors, could help in developing more personalized treatments, the researchers said.
This study also found that depression shared genetic associations with neuroticism — a personality type that is characterized as being more fearful and worried. Researchers also found a shared genetic association with smoking. The later association may indicate that depression could lead some people to smoke.

New Insights into the Genetics of Depression

Researchers identified more than a hundred genetic regions associated with neuroticism, a trait used to gauge personality that is also associated with risk factors for depression and schizophrenia.
For this, the largest study ever done on neuroticism, scientists used data from many studies in what researchers call a “meta-analysis.” 
Altogether the study includes data from almost half a million people, including from 23andMe customers who consented to participate in research.The study led by<a href="https://ctg.cncr.nl/people/danielle_posthuma"> Danielle Posthuma</a>, a statistical geneticist at the Vrije Universiteit Amsterdam, identified 136 genes associated with neuroticism. 
“Neuroticism is an important risk factor for depression,” said Posthuma. “Hence, insights into the biological mechanisms underlying neuroticism may eventually be informative for the development of drugs to treat depression. Our study is the most comprehensive study into the genetics and biological mechanisms of neuroticism to date, and provides very specific starting points for follow-up studies.”
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/06/Brain-e1529951057892-300x254.jpg" alt="" class="alignright wp-image-26298 size-medium" width="300" height="254" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892-300x254.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892-768x651.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892-1024x868.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892-880x746.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892-1180x1000.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/06/Brain-e1529951057892.jpg 1395w" sizes="auto, (max-width: 300px) 100vw, 300px" />The study, published in the journal <a href="https://www.nature.com/articles/s41588-018-0151-7">Nature Genetics</a>, was also able to show two distinct clusters for the neuroticism, one around “worry” and the other for what is called “depressed affect,” which describes a state of reduced emotional expression often associated with schizophrenia. In a parallel meta-analysis that also included data from 23andMe and was published in <a href="https://www.nature.com/articles/s41588-018-0152-6">Nature Genetics</a>,  Posthuma and her team found found 205 loci associated with intelligence offering a deeper look at the neurobiology of cognitive function. That study also found associations between those genetic regions and &#8220;intelligence-linked&#8221; genes, and associations with educational attainment, Alzheimer&#8217;s disease and ADHD. The researcher &#8220;suggest protective effects of intelligence (against) Alzheimer’s disease and ADHD,&#8221; but it is linked to an increased risk for autims.
This research is the latest in a<a href="about:blank"> series of studies</a> that have illuminated the underlying genetic basis for cognitive function, personality traits and psychiatric disorders. The research around personality have included work on the genetics around the so-called called<a href="https://en.wikipedia.org/wiki/Big_Five_personality_traits"> “Big Five</a>” personality traits — neuroticism, extraversion, openness, agreeableness, and conscientiousness.
On that spectrum of traits, a high level of neuroticism is associated with various mental and physical health issues including depression, anxiety, and substance abuse. High levels of neuroticism are also associated with schizophrenia.
By revealing genes associated with neuroticism, this study adds to our understanding of the underlying neurobiology of the condition. The study points to genes and gene regions involved in neurogenesis, or the process of neuron production in the brain, as well as other processes involving neural stem cells and nerve cells in the brain.
“These results are a major step forward in understanding the neurobiology of neuroticism and provide clear clues for functional follow-up experiments,” the study authors said.
&nbsp;

New Study Finds Genetic Associations for Neuroticism

Scientists have found a new method that could help illuminate the many genetic variants that contribute to personality traits and psychological disorders.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg" alt="" class="aligncenter size-large wp-image-25916" width="1024" height="576" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-1180x663.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz.jpg 1366w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />

Both genetics and environmental factors influence personality. Estimates suggest that as much as 50 percent of the variance in personality among individuals is influenced by genetics, and in recent years ever-larger genome-wide association studies have been able to identify some of those genetic associations.

But consistently finding these clues is difficult in part because there are a large number of genetic variants that individually have a small effect but together exert an influence on personality and psychological disorders.

So researchers at the <a href="http://profiles.ucsd.edu/chi-hua.chen">University of California at San Diego</a> created this <a href="https://academic.oup.com/hmg/article-abstract/26/22/4530/4097760">new method</a> for improving the statistical power for gene discovery looking specifically at neuroticism, one of the so-called <a href="https://en.wikipedia.org/wiki/Big_Five_personality_traits">“Big Five”</a> traits for measuring personality. People with high neuroticism scores tend to respond worse to stress and be moodier than average. Neuroticism is associated with various mental and physical health issues including depression, anxiety, and substance abuse, and high levels of neuroticism are associated with schizophrenia.

Using data from about 60,000 23andMe customers who consented to participate in research, as well as data from the <a href="http://www.ukbiobank.ac.uk/about-biobank-uk/">UK Biobank</a> and the international <a href="http://www.tweelingenregister.org/GPC/">Genetic Personality Consortium</a>, the researchers combined two statistical tools — relative enrichment scores and false discovery rates — as a way to extract more information regarding the genetic variants associated with the trait.

This method helped the researchers improve the statistical power of what would be a traditional large-scale genome-wide association study, revealing underlying genetic associations that couldn’t be seen otherwise. In this case, they found five genetic variants in four different genes or gene regions. Variants in one of those genes, EP300, are associated with schizophrenia.

“These genetic and phenotypic findings suggest that neuroticism might share the same biological pathways with psychiatric disorders,” the researchers concluded in the paper.

The researchers said they were able to increase “power for gene discovery for neuroticism.” Beyond that, the researchers argue that the model demonstrates, “that this statistical framework is a promising tool for improving gene discovery using existing (genome-wide association study) summary statistics.”

Go to the Journal of <a href="https://academic.oup.com/hmg/article-abstract/26/22/4530/4097760">Human Molecular Genetics</a> to read more about this study.

Researchers studying personality traits improve method for identifying genetic associations

Researchers have identified genes that influence both the risk for schizophrenia and the development of certain personality traits.<img loading="lazy" decoding="async" class="alignright wp-image-21718 size-medium" src="http://35.88.189.111/wp-content/uploads/2014/09/iStock_000015521781Small-300x200.jpg" alt="" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/iStock_000015521781Small-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/iStock_000015521781Small-768x511.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/iStock_000015521781Small.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The work published late last month in the journal <a href="https://www.nature.com/articles/s41598-017-02346-3">Scientific Reports</a>, a Nature Research publication, follows on a study published late last year by the same group of scientists that identified six loci associated with personality traits.
<h2>Correlations with Personality Traits</h2>
That study found correlations between those traits and psychiatric disorders. Still, the work published this week confirms that there is more than just a correlation between certain personality traits and schizophrenia. There are genetic variants that influence both.
The findings also provide new insights into the genetic processes underlying schizophrenia and personality traits, according to the researchers.
The research is consistent with what scientists have suspected all along: that certain personality traits and psychological disorders are related and share some genetic influences. Studies in recent years have shown correlations between psychiatric disorders and personality traits—measured on a spectrum known as the “Big Five” that includes neuroticism, extraversion, openness, agreeableness, and conscientiousness.
<h2>Insights from Large Amounts of Data</h2>
While scientists have long believed that genetics plays a role in personality and the risk for mental illness, pinpointing which genes are involved has been difficult. In the past, the limited size of genome-wide association studies has stymied efforts to identify specific genetic variants associated with these conditions.
The breakthrough with these most recent studies is that researchers have used a meta-analysis to combine data from numerous sources and power their research with enormous data sets.
In this case, researchers used data from about 60,000 23andMe customers who consented to participate in the research and data from more than 80,000 individuals who are part of the Psychiatric Genomics Consortium (PGC) cohort.  The PGC unites investigators from around the world to study the genetics around psychiatric conditions such as bipolar disorder, major depressive disorder, and schizophrenia. The group has also become a sort of repository for data that can be used for these studies.
<h2>Neurotocism and Schizophrenia</h2>
The researchers working on this latest study found six genetic variants shared between schizophrenia and openness to new experiences.
They found three variants that influence both schizophrenia and the personality trait of neuroticism. Although these associations were found using a meta-analysis of the combined 23andMe and PGC data, the researchers also demonstrated that these results could be replicated in the individual cohorts..
“Altogether, our study provides new insights into the genetic architecture of schizophrenia and personality traits,” the researchers said in the paper. “The findings comply with accumulating evidence from genetics and neuroscience suggesting that mental disorders are not discontinuous with normal variation in neurobiological and behavioral dimensions.”
<h2>Learn More</h2>
You can read the paper at Scientific Reports <a href="https://www.nature.com/articles/s41598-017-02346-3">here</a>.

The role of genetics in personality and schizophrenia

New research has found genetic markers linking schizophrenia with personality traits for the first time, shedding new light on the shared genetic <img loading="lazy" decoding="async" class="alignright wp-image-22635 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />influences for personality and psychological disorders.
The findings, published in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3736.html">Nature Genetics</a>, are consistent with research in recent decades showing that personality traits and psychological disorders are related.


In their paper, the researchers said their findings – identifying six variants associated with personality traits as well as genetic correlations between personality traits and psychiatric disorders – suggest that “part of the interrelation between personality traits and schizophrenia arises from a shared genetic basis.”

While past studies have found genetic associations for both schizophrenia and personality – there are literally hundreds of single nucleotide polymorphisms (SNPs) associated with schizophrenia, for instance – this is the first time that researchers have found indications that they share genetic influences, which in turn can help explain the clinical association between the two.


To discover these findings, a team of scientists, looked at data from a 23andMe genome wide association study on what are called the “Big Five” personality traits – neuroticism, extraversion, openness to experience, agreeableness and conscientiousness – and compared that data to findings from <img loading="lazy" decoding="async" class="alignright wp-image-24829 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/12/ng.3736-F3-300x246.jpeg" alt="ng-3736-f3" width="300" height="246" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/12/ng.3736-F3-300x246.jpeg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/12/ng.3736-F3-768x630.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/12/ng.3736-F3.jpeg 784w" sizes="auto, (max-width: 300px) 100vw, 300px" />other genome wide association studies on schizophrenia. (Last week some of the same scientists who worked on this study, announced their findings from the <a href="https://health.ucsd.edu/news/releases/Pages/2016-11-22-study-finds-rare-genetic-variations-linked-to-schizophrenia.aspx">largest genetic study to date on schizophrenia</a>. That study identified eight locations in the genome with copy number variants associated with schizophrenia risk.)
The researchers working on this latest study found that for all of the personality traits except conscientiousness, there was a polygenic overlap with schizophrenia. In addition, the researchers found that two specific genetic markers associated with neuroticism and five markers associated with openness to experience are also associated with schizophrenia.
The researchers were able to replicate their findings to confirm these associations.
In all, the researchers used data from more than 140,000 people, including data from the<a href="http://www.tweelingenregister.org/GPC/"> Genetics of Personality Consortium</a>, and from about 60,000 customers of 23andMe who consented to participate in research.
The findings are significant because they offer real clues to suggest that personality traits and schizophrenia share some of the same genetic influences. This in turn could help enlighten researchers studying the neurobiological process behind personality and the causes for conditions like schizophrenia.


You can find the paper in <a href="https://www.nature.com/ng/journal/v49/n1/full/ng.3736.html">Nature Genetics.</a>

Genetics found to influence personality and psychological disorders

In what is the largest-ever genome wide association study for social science, researchers found more than 70 genetic variants <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23930" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/31546r-257x300.jpg" alt="31546r" width="257" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/05/31546r-257x300.jpg 257w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/05/31546r.jpg 548w" sizes="auto, (max-width: 257px) 100vw, 257px" />associated with educational attainment – the number of years individuals spent in school or university.


Many of the variants found were also in genes or gene regions associated with cognitive performance, intracranial size, bipolar disorder and a decreased risk for either Alzheimer’s disease or neuroticism.
“It is not surprising that genes seem to matter for educational attainment in part because of their effects on brain development,” said the study authors, who are part of the<a href="http://www.ssgac.org/Home.php"> Social Science Genetic Association Consortium</a>. The new findings appeared in the latest issue of <a href="http://nature.com/articles/doi:10.1038/nature17671">Nature</a>.
The three primary authors of the study –<a href="https://cesr.usc.edu/people/staff/djbenjam"> Daniel Benjamin</a>, at the University of Southern California,<a href="http://econ.as.nyu.edu/object/DavidCesarini.html"> David Cesarini</a>, at New York University and<a href="http://www.erim.eur.nl/people/philipp-koellinger/"> Philipp Koellinger</a>, at Erasmus University in Rotterdam – said certain cognitive abilities and personality traits that matter most for school performance are likely also to reflect how the brain is organized.
“It is intriguing that, even though educational attainment is primarily influenced by environmental factors, our study of educational attainment generates a biological picture of brain development that is clearer than those generated by previous GWAS that focused directly on brain structures,” the authors said.


The researchers identified 74 genetic variants associated with educational attainment, and noted that these variants were in genes or gene regions associated with the development of neural tissue, particularly during prenatal development. Although the genetic associations identified only explain a small portion of the variation for educational attainment, the researchers said the results highlight candidate genes and pathways that should be the focus of future study.
This is the second time the consortium, which includes scientists from a dozen institutions around the world, has looked specifically at educational attainment.
The last study,<a href="https://osf.io/9ka46/"> published in 2013</a>, found just three variants, but that research was only a third of the size of this latest study.
This latest research includes data from more than 300,000 individuals including data from more than 76,000 23andMe customers who consented to research. 23andMe’s contribution was by far the largest of all the 64 cohorts included in the study, which included people from 15 different countries. 23andMe’s principal scientist David Hinds, director of research <a href="https://blog.23andme.com/23andme-research/a-conversation-with-23andmes-director-of-research/">Joyce Tung</a>, and statistical geneticist <a href="https://blog.23andme.com/23andme-research/a-conversation-with-23andme-researcher-nick-furlotte/">Nick Furlotte</a> also contributed to the work.
The researchers noted that it is the size of this study that allowed them to find specific genetic variants that may not have a big effect but are clearly associated with educational attainment.
For the members of the consortium the study reinforced the value of using genome-wide association studies for social science research. At the same time, they took pains to emphasize that educational attainment is much more strongly influenced by social and environmental factors such as the school system where someone is raised.

Genetic variants linked to education level

<div id="attachment_23819" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23819" class="wp-image-23819 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/04/picture-40-1425534389-1-200x300.jpg" alt="picture-40-1425534389" width="200" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/04/picture-40-1425534389-1-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/04/picture-40-1425534389-1.jpg 350w" sizes="auto, (max-width: 200px) 100vw, 200px" />Dan Benjamin, an Associate Professor of Economics at USC and one of the principal investigators with the Social Science Genetic Association Consortium. </div>
In one of the largest-ever genome wide association studies for behavioral traits, researchers have found three genetic variants associated with a person’s sense of well-being.
The study <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3552.html" target="_blank" rel="noopener noreferrer">published this week</a> in the journal Nature Genetics also looked at genetic associations with depression and what is called &#8220;neuroticism&#8221; – personality traits that are characterized by feelings of anxiety, fear and negativity. The study found two variants associated with depression and 11 with neuroticism. Most of the variants associated with depression and neuroticism were also associated with well-being, according to the study.
&#8220;We found that most of the genetic variants associated with depressive symptoms and or neuroticism also were linked to subjective well-being, and vice-versa,” said Daniel Benjamin, corresponding author and an associate professor at USC’s Center for Economic and Social Research at USC. “When examined individually, each genetic variant explains very little about these traits. But when taken together, these findings imply that the genetic influences on depression, neuroticism and subjective well-being result from the cumulative effects of at least thousands, if not millions, of different variants.”


The study was spearheaded by the<a href="http://www.ssgac.org/Home.php">  Social Science Genetic Association Consortium</a>, an international group of more than 190 scientists that was co-founded by<a href="https://cesr.usc.edu/people/staff/djbenjam"> Benjamin</a>, along with<a href="http://econ.as.nyu.edu/object/DavidCesarini.html"> David Cesarini</a>, at New York University and<a href="http://www.erim.eur.nl/people/philipp-koellinger/"> Philipp Koellinger</a>, at Erasmus University in Rotterdam. The consortium investigates the influence of genetics on human behavior, well-being and social science-related outcomes through large-scale studies of human genomes.


In this work, the researchers also found a strong link between the variants associated with these traits and those associated with anxiety disorders. The variants also had some moderate overlap with variants associated with schizophrenia and bipolar disorder.
Benjamin and the other study authors noted that the findings were driven in part by the size of the their genome wide association study, which included analysis of data from 298,420 individuals who were part of 59 different study cohorts that looked at subjective well-being.
The researchers also included data on depressive symptoms and neuroticism from other study cohorts that together included data from more than 300,000 individuals.

The role of genetics in well-being

23andMe’s <a href="https://www.23andme.com/dna-ancestry/">Ancestry Composition report</a> is an evolving analysis of your DNA that gets more precise over time. A new update offers more detail for people with African and East Asian ancestry.
The update comes thanks to the contributions of our customers and new sources of publicly available data, such as the 1000 Genomes Project. In addition, 23andMe’s own African Genetics Project has allowed for the addition of more diverse reference populations. This, in turn, enables more detailed Ancestry Composition breakdowns for customers with African or East Asian ancestry. <img loading="lazy" decoding="async" class="aligncenter wp-image-26486 size-full" title="Sub-Saharian African Ancestry" src="http://35.88.189.111/wp-content/uploads/2018/08/AC-33-Africa.001.jpg" alt="" width="1024" height="768" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-Africa.001.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-Africa.001-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-Africa.001-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-Africa.001-880x660.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h2>Sub-Saharan Africa and Senegambian &amp; Guinean Ancestry</h2>
23andMe researchers have added nine new ancestral regions to Africa and four more to East Asia, creating the most detailed view for customers with African or East Asian ancestry. The most significant part of this update is the additional granularity for Sub-Saharan Africa. This now includes 13 distinct ancestral populations, said David Poznik, a 23andMe Senior Scientist and Population Geneticist.
“Before this update, our Sub-Saharan Africa region had just three subgroups, belying the tremendous genetic diversity within the continent,” David said. “Humans were diversifying In Africa for hundreds of thousands of years before anyone left to colonize other parts of the world.”

These changes are currently available for customers on the company’s latest genotyping chip version. Our team is working to make this update available for all customers soon.
The addition of these new reference populations follows 23andMe’s update earlier this year, which increased the number of countries and regions included in Ancestry Composition from 31 to 151. The company is constantly striving to help customers access, understand, and benefit from the human genome, and the updates are a step forward in achieving these goals.
Three rich data sources made the updates possible: the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, for which 23andMe provided DNA kits to individuals with four grandparents born in the same African country; customer-supplied information; and the 1000 Genomes Project, a public repository of diverse human sequences.
For 23andMe, this is just the beginning of a series of updates that will increase the number of populations covered by Ancestry Composition over time. “The Global Genetics Project is an ambitious initiative that will fuel future updates,” said Poznik.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26482 size-full" title="Global Genetics Project" src="http://35.88.189.111/wp-content/uploads/2018/08/full_world_map.png" alt="" width="2841" height="1509" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map.png 2841w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map-300x159.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map-768x408.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map-1024x544.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map-880x467.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/full_world_map-1180x627.png 1180w" sizes="auto, (max-width: 2841px) 100vw, 2841px" />“We have a list of around 60 countries that we’ve identified as top priorities,” he said. “These are countries with fairly large populations but that aren’t well-represented in our database. We’re giving away kits to people with ancestries from these countries because we’re eager to collect data that will enable us to improve our product for other people from these regions.”
<h2>Let’s take a deeper dive into this newest update</h2>
23andMe&#8217;s Ancestry Composition report enables our customers to dig into the genetic origins of their ancestors. It allows customers to learn from the DNA that makes them who they are today. 23andMe provides two types of insights that delve into different periods: ancestry composition percentages and recent ancestry locations. Your Ancestry Composition report estimates the percentage of your DNA traces to different regions. We do this by comparing thousands of chunks of DNA across your genome to reference populations, individuals with known ancestry from specific regions. By comparing customer DNA segments with reference data, we can find which matches your DNA most closely. For recent ancestor locations, we look for stretches of DNA you may share identically with other 23andMe customers from particular countries. Together, these insights give customers a more complete view of their ancestry.
Thanks to our customers, particularly those who participated in the African Genetics Project, our researchers were able to begin breaking down African ancestry in more detail. 23andMe can now estimate what percentages of your DNA derive from each of 13 populations across the African continent.
<img loading="lazy" decoding="async" class="aligncenter wp-image-26487 size-full" title="East Asian and Native American Ancestry" src="http://35.88.189.111/wp-content/uploads/2018/08/AC-33-East-Asia.001.jpg" alt="" width="1024" height="768" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-East-Asia.001.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-East-Asia.001-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-East-Asia.001-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/AC-33-East-Asia.001-880x660.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />For details about these populations, visit our customer care webpage (Reference populations)
23andMe has also increased granularity in Southeast Asia, distinguishing four new populations: Chinese Dai, Vietnamese, Filipino &amp; Austronesian, and Indonesian, Khmer, Thai &amp; Myanma.
<h2>When will my report be updated? </h2>
Starting in July, 23andMe began making this update available to customers who were genotyped on the latest version of our genotyping chip (version 5).
Do you have an older version of our chip? Fear not—23andMe is actively working on supporting this update for customers genotyped on older chips. Existing customers will receive notifications on their reports when their results have been recalculated.
<h5>Ongoing Research 
</h5>
These new breakdowns were made possible by our customers&#8217; participation in research. In late 2016, 23andMe launched the African Genetics Project to improve diversity in research and provide better ancestry composition results for customers. More than 1,000 individuals participated in the initiative, leading to an influx of new reference data that helped to diversify our research database and has enabled 23andMe to improve results for customers with African ancestry.
23andMe is now undertaking the Global Genetics Project. As part of this effort, 23andMe is reaching out to thousands of individuals with recent heritage from over 60 countries in Africa, Oceania, Asia, and the Americas. Check out the landing page <a href="https://www.23andme.com/global-genetics/" target="_blank" rel="noopener noreferrer" data-saferedirecturl="https://www.google.com/url?hl=en&amp;q=https://www.23andme.com/global-genetics/&amp;source=gmail&amp;ust=1535037961314000&amp;usg=AFQjCNHEKE-k-xKQzlnPEpTtjXvcQwWQwg">here</a> to learn more.
Our reference panels include data from more than 10,000 people around the world, both from publicly available datasets (the Human Genome Diversity Project and the 1000 Genomes Project) and from many 23andMe customers who have consented to participate in research.
<h2>Updated List of Populations in Africa &amp; East Asia</h2>
Sub-Saharan Africa
Congolese
Southern East African
<ul>
<li>Kenya</li>
<li>Rwanda</li>
</ul>
Broadly Congolese &amp; Southern East African
Ethiopian &amp; Eritrean
<ul>
<li>Ethiopia</li>
<li>Eritrea</li>
</ul>
Somali
Sudanese
Broadly Northern East African
Senegambian &amp; Guinean
<ul>
<li>Guinea</li>
</ul>
Coastal West African
Nigerian
Broadly West African
<ul>
<li>Cabo Verde</li>
<li>Cameroon</li>
</ul>
African Hunter-Gatherer
Broadly Sub-Saharan African
East Asia &amp; the Americas 
Chinese
<ul>
<li>Mainland China</li>
<li>Taiwan</li>
</ul>
Chinese Dai
Vietnamese
Indonesian, Thai, Khmer &amp; Myanma
<ul>
<li>Indonesia</li>
<li>Thailand</li>
<li>Cambodia</li>
<li>Myanmar</li>
<li>Malaysia</li>
</ul>
Filipino &amp; Austronesian
<ul>
<li>Philippines</li>
<li>Guam</li>
<li>Northern Mariana Islands</li>
<li>Tonga</li>
<li>American Samoa</li>
<li>Samoa</li>
</ul>
Broadly, Chinese &amp; Southeast Asian
Korean
<ul>
<li>North Korea</li>
<li>South Korea</li>
</ul>
Japanese
Broadly Korean &amp; Japanese
Native American
<ul>
<li>Argentina</li>
<li>Aruba</li>
<li>Belize</li>
<li>Bolivia</li>
<li>Brazil</li>
<li>Chile</li>
<li>Colombia</li>
<li>Costa Rica</li>
<li>Cuba</li>
<li>Dominican Republic</li>
<li>Ecuador</li>
<li>El Salvador</li>
<li>Guatemala</li>
<li>Honduras</li>
<li>Mexico</li>
<li>Nicaragua</li>
<li>Panama</li>
<li>Paraguay</li>
<li>Peru</li>
<li>Puerto Rico</li>
<li>Uruguay</li>
<li>Venezuela</li>
</ul>
Siberian
Manchurian &amp; Mongolian
<ul>
<li>Kazakhstan</li>
<li>Kyrgyzstan</li>
<li>Mongolia</li>
</ul>
Broadly, North Asian &amp; Native American
Broadly, East Asian &amp; Native American
Endnote: All 23andMe customers will soon receive 23andMe&#8217;s Ancestry Composition update, which will include additional regions in Africa and East Asia.

New African & East Asian Details in 23andMe’s Latest Ancestry Composition Update

Encouraged by the success of our African Genetics Project, 23andMe is now undertaking one of its most ambitious ancestry initiatives to date, <a href="https://23andme.com/global-genetics/"> The Global Genetics Project</a>.
As part of this effort, 23andMe is reaching out to thousands of individuals with recent heritage from dozens of countries in Africa, Oceania, Asia, and the Americas. This work will help 23andMe expand its reference data sets, improve the ability of our scientists to study groups who are currently underrepresented in genetic research and reveal new insights into patterns of human migration and genetic diversity. The goal is to recruit more than 5,000 individuals over the next two years to participate in this study.
Our researchers modeled the Global Genetics Project using what we learned in doing the<a href="https://blog.23andme.com/articles/the-african-genetics-project/"> African Genetics Project</a>, which launched in late 2016. That effort was successful in quickly recruiting about 1,000 individuals with four grandparents from one of 16 countries in Africa, and the data from those participants is already yielding insights that will improve not just research, but also results for 23andMe customers trying to learn more about their African heritage.
<img loading="lazy" decoding="async" class="aligncenter wp-image-25982 size-full" src="http://35.88.189.111/wp-content/uploads/2018/01/1200x628_icon_notext.png" alt="" width="1200" height="628" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext.png 1200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext-300x157.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext-768x402.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext-1024x536.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext-880x461.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/01/1200x628_icon_notext-1180x618.png 1180w" sizes="auto, (max-width: 1200px) 100vw, 1200px" />
As did the African Genetics Project, the Global Genetics Project will recruit individuals — who are 18 years of age or older and live in the United States —  whose four grandparents were born in one of several dozen countries across the globe. Each participant will be asked to provide a saliva sample for genetic analysis and complete 23andMe’s Family Origins survey. 23andMe believes that the Global Genetics Project will not only enrich our understanding of human genetic diversity, but also power insights into conditions that may impact populations that are underrepresented in genetic research.
To do that, 23andMe is looking for people who are not currently customers and have four grandparents from the high priority underrepresented populations that are part of this project. (Go the the <a href="https://23andme.com/global-genetics/">Global Genetics Project</a> page for the full list of all 61 countries.)
While the thrust of the Global Genetics Project is to improve insights into ancestry, it could also help 23andMe conduct significant health-related research within underrepresented populations.  Although for many health-related conditions, ethnicity is correlated with risk,<a href="https://www.nature.com/nature/journal/v475/n7355/full/475163a.html"> more than 90 percent</a> of the research into the genetics underlying health conditions is on individuals of European descent alone. By diversifying its own data with efforts such as the Global Genetics Project, 23andMe believes it can conduct the kind of research that benefits a much broader community.
This effort is also part of a long standing commitment 23andMe has had to improve diversity in genetic research. From 23andMe’s<a href="https://blog.23andme.com/articles/roots-into-the-future/"> Roots Into the Future</a> project designed to study the genetics of diseases impacting African Americans, to a<a href="https://blog.23andme.com/articles/23andme-scientists-improving-diversity-in-genetic-research/"> NIH-funded project</a> to develop a new way to detect disease-causing genetic variants among ethnically mixed populations. More recently 23andMe began an <a href="https://blog.23andme.com/articles/african-american-sequencing-project/">African-American Sequencing Project</a>. That project, which was partially funded by a<a href="https://mediacenter.23andme.com/press-releases/23andme-nih-work-to-reduce-health-research-disparities-among-african-americans/"> grant</a> from the<a href="https://www.genome.gov/"> National Human Genome Research Institute</a>. These initiatives all aim to improve diversity in research. Continuing that trend, the Global Genetics Project aims to enroll at least 5,000 participants within 2 years.
Learn more about the Global Genetic Project, including eligibility,<a href="https://23andme.com/global-genetics/"> here</a>.

23andMe Launches The Global Genetics Project

A remarkable aspect of 23andMe&#8217;s Ancestry Composition feature is that the innovative machine learning technology under the hood gets better and more precise as we add new customers and refine our technology.
We&#8217;ve been revving that machine up lately, so this week some customers who have tested on our latest genotyping chip will start to see more precise detail in their<a href="https://www.23andme.com/dna-ancestry/"> Ancestry Composition</a> results.
What’s happening here reflects both changes to our genotyping chip and our ever-increasing numbers of new customers. These new customers enabled us to “retrain” the machine learning algorithm and improve the accuracy and specificity of ancestry assignments we report. So now, for example, a customer with a percentage of their Ancestry Composition previously designated as “Broadly European,” may now see some of this ancestry assigned as &#8220;French or German.&#8221;
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1024x647.png" alt="" class="aligncenter size-large wp-image-25829" width="1024" height="647" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1024x647.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-300x190.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-768x485.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-880x556.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1180x746.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
These changes improve an already fantastic feature by boosting precision and recall for many ancestral populations. Customers interested in their <a href="https://blog.23andme.com/23andme-and-you/23andme-how-to/meet-your-chromosome-painting/">Chromosome Paintings</a> may also notice improvements due to our use of an updated &#8220;phasing&#8221; algorithm. 
These changes will also help set the table for 23andMe to begin to add additional reference populations in the coming months. These, in turn, will also improve results for customers. 
Currently, we use 24 reference populations from around the world to report 31 population labels, including higher-order groupings. Adding new populations will allow 23andMe to offer more details to customers. That was in part what motivated our researchers to launch the <a href="https://blog.23andme.com/23andme-research/the-african-genetics-project/">African Genetics Project</a> last year. By adding new African reference populations, we will be able to return more precise results to customers with African ancestry. We plan to do similar work with other understudied populations around the world.
Changes to our genotyping chip will also help with this work. 23andMe periodically updates the chip we use for genotyping. We do this to take advantage of improvements in technology, to update the kind of information we can offer customers, and to offer flexibility for future research. This newest chip — our fifth version, hence the name v5 — is an Illumina<a href="http://cts.businesswire.com/ct/CT?id=smartlink&#038;url=http%3A%2F%2Fwww.illumina.com%2Fglobalscreeningarray&#038;esheet=51363623&#038;newsitemid=20160616005665&#038;lan=en-US&#038;anchor=Infinium%C2%AE+Global+Screening+Array&#038;index=2&#038;md5=29b7081699c1fde5cc84559e32a3ca42"> Infinium® Global Screening Array</a> supplemented with ~50,000 SNPs of custom content. This array was specifically designed to better capture global genetic diversity and to help standardize the platform for genetic research.
Ancestry Composition is a great tool that promises to keep getting better, so if you haven’t had a look lately <a href="https://www.23andme.com/dna-ancestry/">check it out</a>. You can read more about the science behind all this by looking at this white paper on<a href="https://www.23andme.com/ancestry-composition-guide/"> Ancestry Composition</a>.

23andMe revs up Ancestry Composition feature

February is Black History Month offering us another opportunity to talk about diversity in genetic research and why it’s important for all of us.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25259" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg" alt="" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-768x768.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-1024x1024.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-880x880.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-372x372.jpg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-574x574.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3-980x980.jpg 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/01/05242016_ig_ad_3.jpg 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe’s mission has always been to help people access, understand, and benefit from the human genome. Everyone should gain from the scientific insights we learn through research. That means people of all ethnicities. But that hasn’t happened because research — not just 23andMe research — but all biomedical and genetic research has been hampered by a lack of diversity.


A recently article published in the journal <a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759">Nature</a> found that less than three percent of the genome wide association studies published involve people of African Ancestry. And it’s not just African Americans who are being left out. More than 80 percent of biomedical research is focused on people of European ancestry.
There are very real repercussions when research is limited to just one group.
For example, a lack of diversity in research could lead to misdiagnosis. A <a href="https://www.wsj.com/articles/study-warns-of-misdiagnosis-in-genetic-testing-1471453590">recent study</a> by researchers at Harvard looked specifically at how a gene mutation was misclassified among African American patients indicating that they were at risk for a serious heart condition called hypertrophic cardiomyopathy when in fact they were not. Basically the researchers found that the variants or mutations that caused a heightened risk in patients of European ancestry were not risky for those of African or other non-European ancestry.
By studying Europeans alone, we blind ourselves to discoveries that could be found in other populations that frankly could help all people.
So what can we do about it?
A lot, it turns out.
23andMe recognized early on that we needed to do more. In 2011 early in our company’s history, we launched something called the <a href="https://blog.23andme.com/news/announcements/roots-into-the-future/">“Roots Into the Future Project,”</a> enrolling  10,000 African Americans in a study meant to bring better understanding of the connection between DNA and diseases most relevant to African Americans. We have since added another 10,000 to the study. And we’ve steadily added additional efforts to improve diversity.
In November 2013 we kicked off our African Ancestry Project, which recruited people with four grandparents from Sub-Saharan Africa to improve our knowledge of African genetic diversity. Late last year we launched an even more ambitious initiative called the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, that enrolls individuals from 16 different African countries. The purpose is not just to help people with African ancestry uncover their African roots, but it could also help yield new insights into the TransAtlantic slave trade.
We know that the Africans enslaved in the Americas were not a monolithic group but individuals from different cultures with different languages who were forced together into slavery. We hope this study will help our researchers identify direct connections between locations in Africa and the Americas.
This isn’t the first time that we’ve looked at our data to gain insights that go beyond just health research. A little over two years ago our researchers published the first <a href="https://blog.23andme.com/23andme-research/dna-usa-2/">genetic portrait of the United States</a>, illustrating the complex mix of African, Native American, Latino and European ancestry across the country and giving new insight into our social and political history.
Beyond that work, we’re also looking at how to leverage data we already have.
In early 2016, 23andMe received an NIH grant to improve how we study disease in African American and Latino populations. Both of these populations are “admixed,” meaning they have a mix of African, European and Native ancestry. By using something called mapping by admixture linkage disequilibrium, or admixed mapping, we believe we can identify disease causing genetic variants for conditions that are more prevalent among African Americans, such as high blood pressure, Type 2 diabetes and Asthma.


Then late in 2016, 23andMe launched the African Sequencing Project, which also received funding from the NIH. This effort will help 23andMe create a new reference panel for African Americans that we could share with the broader scientific community. This would make it easier for all researchers to do important health research in the African American community.
Find out more about our efforts <a href="https://www.23andme.com/roots/#commitment">here</a>.

Black History Month Draws Attention to The Need for Diversity in Genetic Research

DNA extracted from bones at a burial site in a rocky valley on a remote island in the South Atlantic could hold important information for those with ancestral roots in Africa.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-1974" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/oldafricamap1508-300x221.png" alt="oldafricamap1508" width="300" height="221" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/11/oldafricamap1508-300x221.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/11/oldafricamap1508.png 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
A fascinating article in <a href="https://www.nature.com/news/what-dna-reveals-about-st-helena-s-freed-slaves-1.21096?WT.mc_id=SFB_NNEWS_1508_RHBox">Nature</a>, describes work led by <a href="http://snm.ku.dk/english/staffsnm/staff/?pure=en/persons/368359">Hannes Schroeder</a> to make that connection. Schroeder, a researcher at the University of Copenhagen, and his team have extracted genetic material from skeletal remains of some of the thousands of slaves who were freed by the British Navy between 1840 and 1865.
Taken from slave ships on their way to the New World as many as 20,000 people, many of them children, were saved from enslavement in the Americas, but were then unceremoniously deposited on the island of St. Helena. Sick and emaciated from their brutal ordeal many of them died there. The island’s Rupert Valley is the final resting place of more than 8,000 people.

This little known history would have been forgotten altogether if the graves were not found a few years ago during a construction project. The find, and the promise of sequencing the DNA of some of the bones there, offered Schroeder and his team a tantalizing opportunity – a chance to sequence individuals who’d been destined for slavery in the New World but never got there. Their DNA could reveal what written records have failed to track, the specific regions in Africa from where slaves came.
This is the part of Schroeder’s work that is most interesting for us here at 23andMe, where our own <a href="https://blog.23andme.com/articles/the-african-genetics-project">African Genetics Project</a> is also trying to make that connection, albeit in a different way.
While much has been done to document the history of the enslavement of the more than 12 million Africans who survived the brutal Middle Passage to wind up in bondage in the New World, this effort, and 23andMe’s, offers a chance to look beyond the limitations of the written record. We know that the Africans enslaved in the Americas were not a monolithic group but individuals from different cultures and with different languages who were forced together into slavery.
Schroeder and his team have already sequenced partial genomes of about 20 individuals, and found that they represent a diverse collection of African groups. As the article notes some of the samples indicate shared ancestry with West and Central African ethnic groups, such as the Bamoun and Kongo. But for the others, matches could not be found. This is likely because there are not diverse reference data sets to compare them too. Schroeder is hoping that two medically-related sequencing efforts in Africa will help change that.
In the meantime 23andMe’s African Ancestry Project has begun to recruit people in the United States, who emigrated, or whose parents emigrated, from several specific countries in Sub-Saharan Africa to improve its set of African reference data. This will not just improve the information we can report back to people of African descent, it could also help yield new insights into the TransAtlantic slave trade.
“23andMe researchers hope to identify direct connections between locations in Africa and the Americas, possibly adding important details to the historical record,” said Joanna Mountain, Ph.D., senior director of research at 23andMe.
Like 23andMe Schroeder and his team are looking to make direct connections from specific locations in Africa and the individuals who wound up in St. Helena. In turn this may also help people of African descent living in the Americas a bridge to their own ancestral past.
Fatimah Jackson, a biological anthropologist at Howard University in Washington DC who is sequencing ancient DNA from other slave burial sites, is quoted in the Nature article as saying that his kind of research has the potential of changing people’s perception of the past.
“It&#8217;s a very personal thing for us,” Jackson said. “It&#8217;s not just ancient DNA. It&#8217;s ancient DNA of potential ancestors.”

African Genetics Project

Stay in the know.