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

This August, we’re adding 23 new historical individuals whose genomes were studied as part of a large-scale investigation into one of Europe’s most iconic eras—the Viking Age (800–1050 CE).



<h2 class="wp-block-heading" id="h-what-is-a-viking">What is a Viking?</h2>



The term Vikings refers to seafaring people from Scandinavia (present-day Denmark, Sweden, and Norway) who lived between the late 8th and late 11th centuries. Renowned for their sailing skills and distinctive longships, Vikings traveled widely—raiding, trading, and settling far beyond their homelands. Their influence stretched from the North Atlantic and Baltic Sea to the Mediterranean, North Africa, the Middle East, and even as far as North America.



This period of exploration and expansion left lasting cultural and genetic legacies across Europe and beyond, which scientists can now explore through ancient DNA.



<h2 class="wp-block-heading" id="h-studying-the-genetics-of-the-viking-age">Studying the Genetics of the Viking Age</h2>



In 2020, <a href="https://pubmed.ncbi.nlm.nih.gov/32939067/" target="_blank" rel="noreferrer noopener">researchers sequenced the genomes of 442 individuals</a> from archaeological sites across Europe and Greenland dating to, or around, the Viking Age. The results revealed that Viking populations were genetically diverse and spread their ancestries into many regions. For example, the study found evidence of:



<ul class="wp-block-list">
<li>Danish-like ancestry moving into England</li>



<li>Swedish-like ancestry reaching the Balkans</li>



<li>Norwegian-like ancestry influencing Ireland, Iceland, and Greenland</li>
</ul>



<h2 class="wp-block-heading" id="h-meet-some-of-the-newly-added-individuals">Meet Some of the Newly Added Individuals</h2>



The 23 historical individuals we’re adding this month come from eight archaeological sites that span the wide geographic range touched by Vikings. Highlights include:



<ul class="wp-block-list">
<li>A 10th-century ship burial on Tomme Island, Norway. Excavated in 1910, this large earthen mound overlooked a natural harbor and contained a mid-10th century ship, the remains of two individuals, and rich grave goods, including weapons and jewelry.</li>



<li>The Salme ship burials, Saaremaa, Estonia. First discovered in 2008 during construction work, the site revealed two ship burials. The first contained seven individuals; the second, 34. These burials likely held warrior-seafarers who died in an armed conflict during the Vendel Period (8th century), which directly preceded the Viking Age.</li>



<li>An Icelandic church buried under volcanic ash. Archaeologists uncovered a mid-10th century hall, an associated cemetery, and a church in southern Iceland. Based on volcanic ash layers from eruptions of Katla volcano, all individuals buried here died before 1300 CE, when the site was completely covered.</li>
</ul>



And more!



<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 Viking Age individuals—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 Europe’s Viking Age

This July, in honor of French-American Heritage Month, we’re adding four new individuals from early medieval France to our <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature.



<h2 class="wp-block-heading" id="h-studying-the-demography-of-northern-france">Studying the Demography of Northern France</h2>



In a <a href="https://www.nature.com/articles/s41467-024-51087-1" target="_blank" rel="noreferrer noopener">2024 study published in Nature Communications</a>, researchers sequenced the genomes of 3,234 present-day individuals from across northern France to explore the region’s population history. As part of this study, they also analyzed the DNA of six historical individuals who lived between the 4th and 11th centuries CE, recovered from archaeological sites in the Pays de la Loire region of northwestern France—four of whom had DNA of high enough quality to be added to the Historical Matches feature.



<h2 class="wp-block-heading" id="h-northwestern-france-in-the-early-medieval-period">Northwestern France in the Early Medieval Period</h2>



The period between the fall of the Western Roman Empire in the 5th century and the rise of the Carolingian Empire in the 9th century was one of major cultural and demographic transformations in northwestern France. While few written records survive, archaeological and linguistic evidence points to a region shaped by interactions with British, Irish, and Germanic populations. This study offers new genetic insights into this transitional period in history.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2025/07/medieval_france-1024x576.png" alt="" class="wp-image-34036" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france-1024x576.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france-300x169.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france-768x432.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france-880x495.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france-1180x664.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/medieval_france.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h2 class="wp-block-heading" id="h-dna-reveals-migration-across-europe-and-beyond">DNA Reveals Migration Across Europe—and Beyond</h2>



By studying the genomes of present-day and historical individuals, the research team uncovered strong genetic links between the people of northern France and of Great Britain and Ireland, supporting the idea that migration—not just trade or cultural exchange—connected these regions during the early Middle Ages.



The study also revealed regional differences in ancestry across northern France. For instance, people living north of the Loire River had more ancestry linked to Bronze Age populations from the Eurasian Steppe, introduced to western Europe around 2500 BCE with the spread of the Bell Beaker culture. In contrast, those south of the river retained more ancestry from earlier Neolithic farming populations.&nbsp;



While most of the historical individuals whose genomes were sequenced in this study were genetically similar to modern northern French populations, the research team was surprised to discover that one individual had recent North African ancestry. This finding highlights the fact that long-distance mobility and migration played a role in shaping the demography of northern France, even during the Medieval Period.



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



Want to see if you share a genetic connection with any of these newly added individuals from early medieval France—or to hundreds of other historical individuals? The Historical Matches 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 Early Medieval France

We’re excited to announce an update to our 23andMe Ancestry Service adding greater detail for people with East Asian ancestry. We previously introduced Genetic Groups in <a href="https://blog.23andme.com/articles/new-genetic-groups-for-japan-and-scandinavia" target="_blank" rel="noreferrer noopener">Japan</a>, and now we&#8217;ve expanded our Genetic Groups in this region to include groups in China, Korea, and Mongolia. 



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="724" src="http://35.88.189.111/wp-content/uploads/2025/07/east_asia-1024x724.png" alt="" class="wp-image-34028" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/east_asia-1024x724.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/east_asia-300x212.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/east_asia-768x543.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/east_asia-880x622.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/07/east_asia-1180x834.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



More than 70% of our customers with a majority of their ancestry from China, Korea, or Mongolia, who tested on our <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version" target="_blank" rel="noreferrer noopener">latest genotyping chip</a>, are expected to see a new match to at least one of these regions. And <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium™ members</a> will also be able to see any distant Genetic Group connections they may have.



<h3 class="wp-block-heading" id="h-china">China</h3>



With its vast geography and thousands of years of continuous civilization, China’s population tells a story of ancient migrations, dynastic expansions, and cultural blending. Beyond its borders, waves of Chinese emigration over the past few centuries—spurred by trade, labor opportunities, and political upheaval—have spread the Chinese diaspora across Southeast Asia, North America, and beyond. These new Genetic Groups may give you the opportunity to trace your lineage back to specific regions and uncover the stories of movement, adaptation, and resilience.



<h3 class="wp-block-heading" id="h-korea">Korea</h3>



Shaped by rugged mountains, fertile river valleys, and a deep sense of cultural continuity, Korea tells a story of resilient kingdoms and a people who have preserved their culture through centuries of challenge and change. From the ancient kingdom of Gojoseon to the powerful Three Kingdoms era and the long reign of the Joseon dynasty, Korean history is marked by innovation, Confucian scholarship, and a strong cultural backbone. Despite invasions, colonization, and the lasting division of the peninsula, Korea has maintained a distinct language, script, and cultural legacy.&nbsp;



<h3 class="wp-block-heading" id="h-mongolia">Mongolia</h3>



Known as the birthplace of the Mongol Empire, Mongolia has a deep nomadic heritage that stretches across the steppes of Central Asia. Mongolia rose to global prominence under the leadership of Genghis Khan in the 13th century, uniting nomadic tribes and forging connections from Europe to Asia. Despite centuries of foreign influence, Mongolia has preserved its language, identity, and nomadic heritage. Today, its past lives on not just in epic histories, but in the enduring customs and landscapes of the steppe.



<h2 class="wp-block-heading" id="h-ancestry-composition-update">Ancestry Composition Update</h2>



The 23andMe Ancestry Composition report is a living analysis that improves as we add new reference data. Underlying our Ancestry reports are powerful algorithms and analytical tools developed by 23andMe population geneticists and engineers to offer our customers more insights into their ancestral origins.



Recently, we’ve updated results for people with connections to <a href="https://blog.23andme.com/articles/new-genetic-groups-in-eastern-europe" target="_blank" rel="noreferrer noopener">Eastern Europe</a>, <a href="https://blog.23andme.com/articles/european-diaspora-genetic-groups-update" target="_blank" rel="noreferrer noopener">European diasporas in North America and South Africa</a>, <a href="https://blog.23andme.com/articles/genetic-groups-french-german-us-canada" target="_blank" rel="noreferrer noopener">French and German Groups in North America</a>, and <a href="https://blog.23andme.com/articles/genetic-groups-south-asia" target="_blank" rel="noreferrer noopener">South Asia</a> for instance.



<h2 class="wp-block-heading" id="h-find-out-more">Find out more</h2>



If you are a 23andMe customer with the <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version" target="_blank" rel="noreferrer noopener">latest genotyping chip</a>, V5, you can see your results in your Ancestry Composition report.



Curious if you’re connected? Discover 23andMe’s <a href="https://www.23andme.com/compare-dna-tests/" target="_blank" rel="noreferrer noopener">Ancestry Service and more</a>.



<h3 class="wp-block-heading">New Genetic Groups added as part of this update:&nbsp;</h3>



<h4 class="wp-block-heading">China and Taiwan</h4>



<ul class="wp-block-list">
<li>Bohai Sea</li>



<li>Central Guangdong Coast</li>



<li>Changle District</li>



<li>Chaoshan Region</li>



<li>Gan and Xiang River Basins</li>



<li>Greater Taishan Region</li>



<li>Guangdong Coast</li>



<li>Guanghai Bay</li>



<li>Hai and Liao River Basins</li>



<li>Hainan</li>



<li>Hong Kong</li>



<li>Hong Kong–Shenzhen Region</li>



<li>Hongshui River Basin</li>



<li>Jiao River Basin</li>



<li>Lower Dong River Basin</li>



<li>Lower Min River Basin</li>



<li>Luan and Songhua River Basin</li>



<li>Luoyuan Bay</li>



<li>Min River Estuary</li>



<li>North and Northeast China Plains</li>



<li>Northern Fujian Coast</li>



<li>Northern Guangzhou</li>



<li>Northern Jiangmen</li>



<li>Northern Pearl River Delta</li>



<li>Northern Taishan</li>



<li>Northern Taiwan</li>



<li>Ou River Basin</li>



<li>Pearl River Delta</li>



<li>Shandong and Liaodong Peninsulas</li>



<li>Sichuan Basin</li>



<li>Southeastern China Coast</li>



<li>Southern Guangxi</li>



<li>Southern Jiangmen</li>



<li>Southern Tibetan Plateau</li>



<li>Southwestern Taiwan and Penghu Islands</li>



<li>Taichung Basin</li>



<li>Taihang Mountains</li>



<li>Taipei Basin</li>



<li>Taiwan Strait</li>



<li>Tarim Basin</li>



<li>Wenzhou Coastal Plains</li>



<li>Western Pearl River Delta</li>



<li>Wugui Mountain Region</li>



<li>Xishuangbanna</li>



<li>Yangtze River Delta</li>



<li>Yong River Basin</li>



<li>You River Basin</li>



<li>Zhongshan–Zhuhai Coast</li>



<li>Zhuoshui and Dajia River Basins</li>



<li>Zuo River Basin</li>
</ul>



<h4 class="wp-block-heading">Korea</h4>



<ul class="wp-block-list">
<li>Gyeonggi</li>



<li>Honam</li>



<li>Honam Plain</li>



<li>Jeju Island</li>



<li>Lower Yeongsan River Basin</li>



<li>Mudeungsan</li>



<li>Naejangsan and Haenam Peninsula</li>



<li>Nakdong River Basin</li>



<li>Nam River Basin</li>



<li>North-Central Korean Peninsula</li>



<li>Northern Sobaek Mountains</li>



<li>Southern Sobaek Mountains</li>



<li>Southwestern Korean Coast</li>



<li>Yeongnam</li>
</ul>



<h4 class="wp-block-heading">Mongolia</h4>



<ul class="wp-block-list">
<li>Dzhida River Basin</li>



<li>Eastern Gobi Desert</li>



<li>Eastern Mongolian Steppe</li>



<li>Gobi Altai Mountains</li>



<li>Lake Khövsgöl and Ider River Basin</li>



<li>Lower Selenge River Basin</li>



<li>Mongolian Altai Mountains</li>



<li>Northern Great Lakes Depression</li>



<li>Northern Lake Baikal</li>



<li>Orkhon River Basin</li>



<li>Southern Great Lakes Depression and Suman River Basin</li>



<li>Southwestern Lake Baikal</li>



<li>Transbaikal Region</li>



<li>Tuul River Basin and Southern Khangai Mountains</li>



<li>Western Khangai Mountains</li>



<li>Zavkhan River Basin</li>
</ul>

23andMe Adds New Ancestry Details for China, Korea, and Mongolia

This month, we’re expanding our <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature to include a 2024 study that reminds us that, throughout human history, <a href="https://blog.23andme.com/articles/how-was-your-sex-determined-it-might-be-a-lot-more-complicated-than-you-think" target="_blank" rel="noreferrer noopener">biological sex</a> has been more complex than a simple XX or XY binary.



<h2 class="wp-block-heading" id="h-variation-in-chromosome-number-in-humans">Variation in chromosome number in humans</h2>



Most humans have a total of 46 (or 23 pairs) of chromosomes, but around 0.3% of people have a different number. This difference, known as aneuploidy, involves having extra or missing copies of one or more chromosomes. The most common forms of aneuploidy involve the sex chromosomes (X and Y). Some of these—including XXY (often associated with Klinefelter syndrome), XYY, and X (commonly linked to Turner syndrome)—are part of what is recognized today as intersex variation.*



<h2 class="wp-block-heading" id="h-early-ancient-dna-studies-failed-to-account-for-sex-chromosome-number-variation">Early ancient DNA studies failed to account for sex chromosome number variation</h2>



In the early days of ancient DNA research, scientists typically assumed that all individuals had either two X chromosomes (XX) or one X and one Y chromosome (XY). These assumptions were built into standard methods for estimating genetic sex, which relied on the expected ratio of DNA sequences from the X and Y chromosomes. Any deviation from these expected patterns was often interpreted as contamination from modern DNA—such as from an archaeologist or lab technician who had handled the remains.



As a result, individuals with one X chromosome (Turner syndrome), three X chromosomes (Triple X syndrome), or an extra Y chromosome (XYY syndrome) could appear genetically indistinguishable from those with more common XX or XY patterns. Others—such as individuals with XXY chromosomes—might have been misclassified as contaminated.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="869" height="649" src="http://35.88.189.111/wp-content/uploads/2025/06/Human_chromosomesXXY.png" alt="" class="wp-image-33997" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/Human_chromosomesXXY.png 869w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/Human_chromosomesXXY-300x224.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/Human_chromosomesXXY-768x574.png 768w" sizes="auto, (max-width: 869px) 100vw, 869px" /></figure>



<h2 class="wp-block-heading" id="h-updating-the-historical-record">Updating the historical record</h2>



To address this limitation, <a href="https://pubmed.ncbi.nlm.nih.gov/38212558/" target="_blank" rel="noreferrer noopener">a team of researchers in 2024</a> developed a new approach for estimating sex chromosome number in ancient individuals. Their method accounts for a wider range of possible sex chromosome combinations and makes it easier to distinguish genuine variation from contamination.



Using this new approach, the researchers identified five individuals from ancient Britain with sex chromosome aneuploidies. These included:



<ul class="wp-block-list">
<li>Three individuals (from the Iron Age through the post-Medieval period) with XXY chromosomes</li>



<li>One Early Medieval individual with XYY chromosomes</li>



<li>One Iron Age individual with a mosaic form of Turner syndrome, meaning they had only one X chromosome in some cells and two in others</li>
</ul>



The researchers also applied their approach to non-sex chromosomes and identified a newborn from Early Medieval Britain with a trisomy of chromosome 21, consistent with Down syndrome.



Although the study examined only a subset of ancient individuals whose genomes have been sequenced, the discovery of multiple people with chromosomal aneuploidies highlights that this kind of biological variation has long been part of human history. It also underscores the importance of using inclusive analytical methods—rather than assuming that everyone fits neatly into an XX or XY binary.



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



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



*Not everyone with a sex chromosome variation identifies as intersex. The term “intersex” is used here in the broad biological sense, to acknowledge that some sex chromosome aneuploidies fall under this umbrella in contemporary discussions of human diversity.



**Receiving a match to a historical individual who has a sex chromosome aneuploidy does not indicate anything about the number of sex chromosomes that you carry.

New Historical Matches Highlight the Importance of Thinking Beyond an XX or XY Binary When Studying the Past

In honor of World Redhead Day on May 26th, we are celebrating one of the most famous redheads in history: Erik the Red.&nbsp;



<figure class="wp-block-image alignleft size-full is-resized"><img loading="lazy" decoding="async" width="339" height="480" src="http://35.88.189.111/wp-content/uploads/2025/05/Eric_the_Red.png" alt="" class="wp-image-33944" style="width:314px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Eric_the_Red.png 339w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Eric_the_Red-212x300.png 212w" sizes="auto, (max-width: 339px) 100vw, 339px" /></figure>



Born in Norway around 950 CE, Erik Thorvaldsson is best known as the Viking explorer who founded the first Norse settlements in Greenland. His distinctive red hair and strong-willed, fiery personality earned him the nickname &#8220;Erik the Red.&#8221;



Shortly after his birth, Erik’s family moved to Iceland after his father, Thorvald Asvaldsson, was banished from Norway for committing manslaughter. In 982 CE, Erik himself was exiled from Iceland for three years for similar reasons, prompting his expedition along Greenland’s coast, where he established several key Norse settlements, including Brattahlid, where he is said to have spent his later years.



Before leaving Iceland, Erik the Red married Thjodhild Jörundsdóttir, with whom he had several children, including the famed explorer Leif Erikson. Once in Greenland, Thjodhild converted to Christianity, a decision said to have caused tension in her marriage to Erik, who, according to the Icelandic sagas and Norse history, never adopted the faith.



Thjodhild is credited with building one of the first Christian churches in the Americas at the family’s farmstead in Brattahlid. In 2020, as part of a <a href="https://pubmed.ncbi.nlm.nih.gov/32939067/" target="_blank" rel="noreferrer noopener">massive study of the Viking world</a>, researchers sequenced the genomes of Viking Age individuals who were buried in a mass grave in the church’s cemetery. While the exact location of Erik the Red&#8217;s grave remains unknown, it is possible that he was among those buried there.



In honor of Erik the Red and World Redhead Day, we have added four new individuals from Brattahlid to our <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature. If you are a 23andMe+ Premium™ member, you can check it out to learn more about this ancient site and find out if you are distantly related to them or hundreds of other historical individuals.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="690" src="http://35.88.189.111/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-1024x690.jpg" alt="" class="wp-image-33945" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-1024x690.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-300x202.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-768x517.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-880x593.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky-1180x795.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/Red_Hair_Against_A_Blue_Sky.jpg 1280w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>

New Historical Matches Could Connect You to Erik The Red’s Home

Note: We&#8217;ve updated this post to reflect the addition of even more Genetic Groups in Eastern Europe.



We’re excited to announce an update to our 23andMe Ancestry Service adding greater detail for people with Eastern European ancestry. We recently introduced new Genetic Groups in Czechia, Estonia, Hungary, Latvia, Lithuania, Poland, Slovakia, and Slovenia. We&#8217;ve now expanded our Genetic Groups in this region to include groups in Belarus, Moldova, Russia, and Ukraine.&nbsp;&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="724" src="http://35.88.189.111/wp-content/uploads/2025/05/ee_cluster-1024x724.png" alt="Map of Genetic Groups in Eastern Europe." class="wp-image-33881" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/ee_cluster-1024x724.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/ee_cluster-300x212.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/ee_cluster-768x543.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/ee_cluster-880x622.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/ee_cluster-1180x834.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The update affects around 14 percent of our customers who tested on our <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a>, and <a href="https://www.23andme.com/membership/">23andMe+ Premium™ members</a> will also be able to see any distant Genetic Group connections they may have to these regions.



Central and Eastern Europe is a region rich in cultural and historical diversity. While these new Genetic Groups provide more granularity, not everyone whose ancestors came from this region will receive a match. In particular, those with Ashkenazi Jewish or Romani heritage are less likely to see one of these new Genetic Groups at this time.&nbsp;&nbsp;



<h2 class="wp-block-heading" id="h-ancestry-composition-update">Ancestry Composition Update</h2>



The 23andMe Ancestry Composition report is a living analysis that improves as we add new reference data. Underlying our Ancestry reports are powerful algorithms and analytical tools developed by 23andMe population geneticists and engineers to offer our customers more insights into their ancestral origins.



Recently, we’ve updated results for people with connections to <a href="https://blog.23andme.com/articles/european-diaspora-genetic-groups-update">European diasporas in North America and South Africa</a>, <a href="https://blog.23andme.com/articles/genetic-groups-french-german-us-canada">French and German Groups in North America</a>, and <a href="https://blog.23andme.com/articles/genetic-groups-south-asia">South Asia</a> for instance.



<h2 class="wp-block-heading" id="h-find-out-more">Find out more</h2>



If you are a 23andMe customer with the <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a>, V5, you can see your results in your Ancestry Composition report.



New Genetic Groups added as part of this update:&nbsp;



<ul class="wp-block-list">
<li>8 new Genetic Groups in Belarus</li>



<li>17 new Genetic Groups in Czechia</li>



<li>5 new Genetic Groups in Estonia</li>



<li>6 new Genetic Groups in Hungary and nearby regions</li>



<li>3 new Genetic Groups in Latvia</li>



<li>11 new Genetic Groups in Lithuania</li>



<li>10 new Genetic Groups in Moldova and nearby regions</li>



<li>32 new Genetic Groups in Poland</li>



<li>24 new Genetic Groups in Russia</li>



<li>15 new Genetic Groups in Slovakia</li>



<li>9 new Genetic Groups in Slovenia</li>



<li>6 new Genetic Groups in&nbsp; Ukraine</li>
</ul>



Curious if you’re connected? Discover 23andMe’s <a href="https://www.23andme.com/compare-dna-tests/">Ancestry Service and more</a>.

New Genetic Groups in Eastern Europe

National Cancer Prevention and Early Detection Month: Highlighting Customer Stories

<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="768" src="http://35.88.189.111/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg" alt="Image of Jenn and her three half siblings" class="wp-image-33542" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings.jpg 1080w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Jenn (far left) and her half siblings (from left) Joe, Mechele &#038; Lisa</figcaption></figure>



They were strangers to Jenn, so as she prepared for her first in-person meeting with her newly found brother and two sisters, her anxiety rose.



“Of course, I was nervous,” said Jenn, a 46-year-old who works in a New York real estate office. “I went over everything that can go wrong, you know, especially because of what happened when I reached out to my birth mother.”



That was in 2019. The state of New York had just opened adoption records. Jenn found the identity of her birth mother, carefully crafted a letter to her, and included photos of herself as a child and another one of her as an adult. Jenn didn’t want anything from her birth mother; she just wanted to connect. Instead of an embrace, she got the kind of response many adoptees fear the most.



“She doesn’t want to have anything to do with me,” Jenn said.



<h2 class="wp-block-heading" id="h-you-have-daddy-s-eyes">‘You Have Daddy’s Eyes’</h2>



So, five years later, after connecting through 23andMe to three half-siblings on her birth father’s side, Jenn was all butterflies. Then she walked into the pizza parlor where she’d be meeting Joe, Lisa, and Mechele. She heard Lisa say, “Welcome baby sister,” and she then got her first group hug.



“Sometimes when you meet someone for the first time, you’re nervous and you hold something of yourself back,” Jenn said. “There was none of that. It’s crazy how easily we got along.”



At one point, one of her siblings said, “You have daddy’s eyes.”



One minute, they were four strangers meeting for the first time; the next, they were family.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="360" height="480" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-sister-.jpg" alt="Jenn and half-sister Mechele" class="wp-image-33543" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister-.jpg 360w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister--225x300.jpg 225w" sizes="auto, (max-width: 360px) 100vw, 360px" /><figcaption class="wp-element-caption">Jenn and Mechele</figcaption></figure>



<h2 class="wp-block-heading" id="h-creating-family-memories">Creating Family Memories</h2>



That was on January 26th, 2024, the 30th anniversary of their father’s death. Their bonds with each other have only grown since then, including a bigger family reunion in August and plans to gather again for the holidays this year.



“I am looking forward to creating memories with my family and learning more and more about our father,” said Jenn. “23andMe was a blessing, and we are so very grateful for the opportunity to make our family complete.”



Getting to the point where she could sit at this much, much bigger family table this holiday season wasn’t easy. It was 46 years in the making.



Jenn, and her brother, were adopted from different families, but they always felt lucky to have a mom that loved them unconditionally.



“When I say, ‘my mom,’ I mean the woman who raised me,” Jenn said. “She is my mother.”



That’s never going to change.



<h2 class="wp-block-heading" id="h-losing-mom">Losing Mom</h2>



When, as young kids, she and her brother learned that they’d been adopted, they didn’t tell their mom.



“I couldn&#8217;t even think about looking for (my birth parents) while she was here because it would have broken her,” Jenn said. “I would not do that.”



For Jenn, being adopted felt special. She believed that unlike other kids who just get the parents they’re born to, she and her brother had been chosen by their parents, and they won the parent lottery with their mom.



“She was my world,” Jenn said, her voice filled with emotion.



When their mom died in 1997, Jenn was devastated. She was 19.



It would be a long time before she’d start searching for where she came from and who her birth parents might have been. It wasn’t so much to make a connection but more about trying to understand herself and her story.



“I wanted to know where I came from and who I was,” she said.



She loved her mom and loves her brother, but she also felt different.



“Growing up, my mom was very quiet, very calm, cool, and collected,” Jenn said. “My brother is also like that, and here I come along and I’m loud, I&#8217;m fresh. I’m the person at the party saying &#8216;let&#8217;s dance.’ I wanted to know why I was that way.”



<h2 class="wp-block-heading" id="h-taking-a-chance-at-finding-family">Taking a Chance at Finding Family</h2>



Her first quest in 2019 started with getting ahold of her adoption records in New York and ended in rejection. She thought that was the end to her search for family.



“I closed the book on all that,” she said.



In 2017 she used 23andMe, but it wasn’t to find her family. She wanted to learn more about her ethnicity. She learned she was mostly British and Irish and had some German ancestry. She had some very distant cousins that popped up, but she didn’t really think about family connections. Then she got an email in December of 2023 notifying her that a relative had messaged her on 23andMe.



It was a message from Joe.



She scrolled down, saw his photo and that he was predicted to be a half-brother.



“I dropped my phone,” she said.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="240" height="320" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-Joe.jpg" alt="Jenn and half-sibling Joe" class="wp-image-33544" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe.jpg 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe-225x300.jpg 225w" sizes="auto, (max-width: 240px) 100vw, 240px" /><figcaption class="wp-element-caption">Jenn and Joe</figcaption></figure>



<h2 class="wp-block-heading" id="h-meeting-for-the-first-time">Meeting for the First Time</h2>



They feverishly began exchanging messages. Joe was as eager as she was to learn more. He eventually asked if he could loop in his sisters. Jenn thought, “Wait, I have sisters.” Then using Facebook, she was able to put more faces to names.



Along with Joe, there was Mechele and Lisa. They all had questions for her as well. Their dad had divorced from their mom in the early 1970s, and afterward he dated for a while. That’s when Jenn had been conceived, but the three siblings believe their father didn’t know anything about Jenn.



“He had no idea about me,” Jenn said. “Everyone swears that if he knew, he one hundred percent would have looked for me, would have found me, and would have been a part of my life.”



But he never got that chance, and then he died of a heart attack in 1994.



<h2 class="wp-block-heading" id="h-nature-versus-nurture">Nature Versus Nurture</h2>



Now Jenn is learning about her birth father from her siblings. She’s learning that they all share the same kind of boisterous personality as she does, and odd little things.



“Okay. So here&#8217;s one thing that happened when,” Jenn said offering one example. “We took a picture, all four of us for the first time and we&#8217;re all joking and just kind of sitting there living in the moment. And my sister Mechele goes, ‘Put a leg up!’”



She kicked her leg up and her sister grabbed it for the photo.



“I stopped for a second and she said, ‘Wait, what happened?’” Jenn said. “They all stopped and looked at me.”



That’s something she’s always doing for photos.



“I looked over at my boyfriend and we&#8217;ve been together for 20 years, and he just shook his head, (because) I do that all the time. I say, ‘Put a leg up!’ and you throw a leg up in the picture.”



It’s such an odd thing to imagine that could be something genetically shared, but it was also so distinctive like something she has always done.



“I was baffled, it’s so weird, but cool, in a cool way,” Jenn said.



<h2 class="wp-block-heading" id="h-your-people">Your People</h2>



&nbsp;As she gets closer to visiting again with her newfound family for the holidays, Jenn also marvels at how fortunate she has been.



“It’s beautiful, this is my family, and I finally get like, I get it all. I get sisters. I get an extra brother. I don’t know how it was so perfect or how I’m so lucky. But I am. I’m the luckiest person in the world.”



There is no question that they are going to stay in each other’s lives. The family is just bigger now.



Her brother, who she was raised with, saw it too.



“He’s my brother. We’re not blood related, but we were raised together. And he said to me when he saw the photos of that first meeting, he said, ‘Jennifer, those are your people.’”

Image of Jenn and her three half siblings

New Family Gathering This Holiday Season

Bella doesn’t know how it started, but genetics has fascinated her since she was little.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="228" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg" alt="A photo of Bella." class="wp-image-33300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg 228w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-768x1009.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-779x1024.jpg 779w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-670x880.jpg 670w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-898x1180.jpg 898w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo.jpg 1080w" sizes="auto, (max-width: 228px) 100vw, 228px" /></figure>



“I don’t know what triggered it; it just appealed to me,” said Bella, a 22-year-old college student with a passion for biology.



For Bella, genetics is like a giant puzzle, with scientists still trying to piece it together to reveal something about us as humans or why some people get sick, and others don’t. 



During the pandemic, she devoured details of how scientists used a small piece of messenger RNA, mRNA, to create a vaccine that would produce an immune response and antibodies against COVID-19. She also contemplates what might be possible in the future; as most people know, certain genetic variants can dramatically increase one’s risk for a disease. But Bella likes to imagine discovering genetic variants that might do the opposite and protect one against disease.



“There’s still so much more to discover,” she said.



<h2 class="wp-block-heading" id="h-a-gift-of-knowledge">A Gift of Knowledge</h2>



She soon learned that the same was true about her own genetics. Her mom gifted her a 23andMe Health + Ancestry kit for Christmas one year. Bella thought it was a perfect choice.



“It’s really easy to use and super detailed,” she said.



She was interested in her ancestry because she never knew much about her family tree. It turns out that she’s Turkish, Iranian and Italian. She was also interested in her health reports. She opted in to view the reports, went through a short tutorial, and opened up her reports, including her Cystic Fibrosis Carrier Status Report.*



“I found out I was a carrier of cystic fibrosis,” Bella said.



<h2 class="wp-block-heading" id="h-what-it-means-to-be-a-carrier">What it Means to Be a Carrier</h2>



Being a carrier does not typically impact your health, and it’s not unusual; depending on ethnicity, between one in 25 and one in 100 people in the United States are carriers for cystic fibrosis. But there is a chance that if you are a carrier and your partner is a carrier, you could have a<a href="https://www.23andme.com/topics/carrier/cystic-fibrosis/"> child with cystic fibrosis</a>. P



eople with cystic fibrosis inherit variants in the CFTR gene from both parents. It is relatively rare; about 35,000 people in the United States have<a href="https://www.cdc.gov/cystic-fibrosis/about/"> cystic fibrosis, according to the CDC</a>. It’s a very serious condition affecting breathing and digestion. There is no cure, but new treatments have helped people with the disease live longer.  



Learning that she was a carrier initially was a big surprise and a little scary. But it triggered some essential family conversations. 



<h2 class="wp-block-heading" id="h-planning-ahead">Planning Ahead</h2>



Bella talked to her mom and then contacted her dad to find out if there was any family history of cystic fibrosis. Then she spoke to her older brother and then a cousin. She thought this would be important information for them to know since they might be considering having children.



Her mom told her she was glad she used 23andMe.



“’Now you know,’” Bella’s mom told her.



Knowing meant she could plan ahead if she decided to have children. It would be essential to know if her partner was also a carrier.



&#8220;Knowledge is power!&#8221; Bella said more than once.&nbsp;



&nbsp;She continues to stress the importance of genetic testing and planning for the future.



Learn More



<a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health &amp; Ancestry</a>, <a href="https://www.23andme.com/membership/">23andMe+ Premium</a>, and <a href="https://www.23andme.com/total-health/">23andMe+ Total Health </a>customers can all <a href="https://you.23andme.com/health/carrier_status/">learn about their carrier status here</a>. 



Not yet a customer? Find out more about <a href="https://www.23andme.com/compare-dna-tests/">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. 



The Cystic Fibrosis Carrier Status report is indicated for detecting 29 variants in the CFTR gene and is most relevant for people of Ashkenazi Jewish, European, and Hispanic/Latino descent.

Bella Learns About Her Carrier Status

Lillian Newman decided to use 23andMe in part because she wanted to learn about her grandfather, who was from Cuba and had some Sephardic ancestry, but she thought testing could reveal so much more than that.



&#8220;The reason I chose 23andMe is that (it has) a focus not only on the ancestry side but on how your DNA relates to your health,&#8221; Lillian said.



<h2 class="wp-block-heading" id="h-what-i-know-now">What I Know Now</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/IMG_3775-225x300.jpg" alt="A photo of Lillian Neuman" class="wp-image-33205" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-768x1024.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-660x880.jpg 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-885x1180.jpg 885w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Little did she know that her 23andMe health reports would help her profoundly. She shared her story because she thought it might help others. Lillian believes that she&#8217;s not the only one who didn&#8217;t know that genetics affects how one&#8217;s body processes many commonly prescribed medications.* Despite this, clinical guidelines rarely call for testing people before prescribing those medications.



&#8220;I wish I had known then what I know now,&#8221; Lillian said. &#8220;Using 23andMe+ Premium and finding out about the SLCO1B1 gene was huge. Huge.&#8221;



Her reference to the SLCO1B1 gene refers to how different genetic variants in SLCO1B1 can affect how you process certain medications.&nbsp; Like millions of Americans, Lillian Newman has high cholesterol, which, left untreated, can lead to a whole host of issues, including heart disease, heart attacks, and strokes. She learned about her high cholesterol after a routine blood test in 2018. To address the problem, Lillian&#8217;s doctor prescribed a statin.



<h2 class="wp-block-heading" id="h-statins-save-lives">Statins Save Lives</h2>



Statins are among the most prescribed medications in the United States. According to the CDC, an estimated one in four adults in the U.S. takes a cholesterol-lowering medication, and the vast majority of those are statins.



Statins work by inhibiting an enzyme in the liver so the liver makes less cholesterol but pulls in more cholesterol from the bloodstream. That lowers the amount of bad cholesterol in the blood, stabilizing any plaques along the artery&#8217;s walls, and preventing even more plaque from building up. That, in turn, reduces the chances of a stroke or heart attack. Statins have proven<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126440/"> mostly safe and effective</a> in lowering cholesterol and thus have helped to prevent heart attacks and strokes.



<h2 class="wp-block-heading" id="h-side-effects">Side Effects</h2>



But there are some side effects from taking statins — headache, brain fog, fatigue, and sometimes intense muscle cramping and pain. Sometimes, these side effects are related to a person&#8217;s genetics, which can affect how they process medications. In turn, the side effects sometimes lead people to either change how they take their medication or stop taking it altogether, which in turn can lead to poor health outcomes.



For Lillian, the side effects — severe muscle pain — began after her doctor increased the dose of the statin she was taking. Within a few weeks, the muscles in her legs started cramping. At one point, she had such crushing chest pain that she thought she was having a heart attack and was rushed to the ER. After a cardiologist determined it wasn&#8217;t her heart, her doctor told her that sometimes people experience cramping as a side effect of taking statins but that the benefits of taking the statin outweigh the pain.



&#8220;I remember I went home feeling despondent,&#8221; Lillian said.



Lillian said no one ever mentioned genetics or how using a different statin dose might help. She thought she just had to grit her teeth and bear it. Periodically, the pain was so bad that she&#8217;d go off her medication, something that can be very risky.



<h2 class="wp-block-heading" id="h-a-simple-change">A Simple Change</h2>



A person&#8217;s genetics — specifically a genetic variant that affects the function of the <a href="https://blog.23andme.com/articles/new-23andme-report-on-simvastatin">SLCO1B1 transporter protein</a>, which in turn affects how a person&#8217;s body processes the statin known as simvastatin — plays a role in side effects like muscle pain in some people. Other non-genetic factors also play a role, but very few people are tested to see if they have a genetic marker that might impact how they process a drug. Lillian didn&#8217;t know anything about what&#8217;s known as <a href="https://blog.23andme.com/articles/23andme-granted-the-first-and-only-fda-authorization-for-direct-to-consumer-pharmacogenetics-reports">pharmacogenetics</a> or how DNA variants influence the body&#8217;s ability to process medication.



&#8220;In the five years of dealing with cholesterol issues, no one tested me for SLC01B1,&#8221; Lillian said.



Although she had been a customer of 23andMe for years, last year, she decided to upgrade to 23andMe+ Premium, which includes pharmacogenetic reports. When she opened the report on SLCO1B1 Drug Transport, specifically looking at the medication insights for simvastatin, it felt personal to her experience.



&#8220;It provided me with critical information to discuss with my doctor,&#8221; Lillian said.



Her doctor lowered her statin dosage, and that small change made a huge difference in her life, allowing her to continue to manage her cholesterol but without the debilitating pain.&nbsp;



&#8220;Now, I wanted to tell you that doing the 23andMe+ membership is the best (money) I spent this year,&#8221; Lillian said. &#8220;I am deeply grateful to 23andMe. You truly made a difference for me by having that test available. I think everyone should know about this.&#8221;&nbsp;



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



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



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



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

Customer Learns Her Genetics Impacts How She Processes Statins

By Rebecca Jones



We all have a story or an accumulation of stories that make us who we are. It&#8217;s part of being human. It&#8217;s in our DNA. If those stories vanish, what are we then?&nbsp;



<h2 class="wp-block-heading" id="h-six-million-living-with-alzheimer-s-disease">Six Million Living with Alzheimer&#8217;s Disease</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="200" height="300" src="http://35.88.189.111/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg" alt="A photo of Rebecca Jones." class="wp-image-33172" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones.jpg 426w" sizes="auto, (max-width: 200px) 100vw, 200px" /></figure>



More than <a href="https://www.alz.org/alzheimers-dementia/facts-figures#:~:text=More%20than%206%20million%20Americans%20of%20all%20ages%20have%20Alzheimer's,older%20(10.7%25)%20has%20Alzheimer's.">six million people in the United States live with Alzheimer&#8217;s disease</a>. A condition that cruelly extinguishes memories one by one—everything from the memory of holding a child for the first time to the touch of a fleeting lost love or the bracing courage we felt when we stood up for ourselves. With Alzheimer&#8217;s disease, those memories vanish until you have no stories left.&nbsp;



Not too long ago, I learned from a 23andMe genetic test that I carry the ?4 variant in the APOE gene, predisposing me toward late-onset Alzheimer&#8217;s disease.* Seeing &#8220;increased risk&#8221; in writing shook me, but it wasn&#8217;t surprising. Three of my aunts on my father&#8217;s side died of Alzheimer&#8217;s disease. After a series of follow-up visits with doctors, confirmatory testing, and then brain scans, I learned that I had early signs of Alzheimer’s disease. Soon after learning all this, I became part of a clinical trial and was among the first wave of patients treated with Eisai and Biogen’s newly approved drug, <a href="https://www.statnews.com/2024/05/09/alzheimers-leqembi-eisai-biogen-hurdles/">Leqembi.</a>



<h2 class="wp-block-heading" id="h-my-story">My Story</h2>



I want to share my story because I believe we should all rethink how we approach genetic testing for Alzheimer&#8217;s disease or any disease. Knowledge is power. Learning early through a consumer genetic test alerted me to a risk I didn’t know about before I was symptomatic. It was information that my doctors could follow up on, and then, miraculously, there was a clinical trial for which I was a good candidate. If I’d waited until I was symptomatic, it might have been too late.



I&#8217;m a mother of four and grandmother of ten. Before I retired, I was a marketing manager for a pharmaceutical company focusing on oncology. Maybe that made me particularly ready to understand the importance of learning one’s genetic risk and navigating participation in a clinical trial.



<h2 class="wp-block-heading" id="h-new-treatments">New Treatments </h2>



For too long, the prognosis for people with Alzheimer’s was bleak. So much so that doctors recommended against learning of your genetic risk because, they reasoned, there was little you could do about it; learning of your risk would cause anxiety and stress. Research <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778270/">doesn&#8217;t support that</a>, but more importantly, the options for people with an early diagnosis have changed. I’m hoping that attitudes about genetic testing, or new types of <a href="https://www.washingtonpost.com/health/2022/11/17/alzheimers-blood-test-research-treatment/">blood testing</a> to identify those at risk or who may have early-stage Alzheimer’s, change as well.&nbsp;



Learning of my risk and then getting a diagnosis spurred me to action. I studied up on new research, promising treatments, and interventions that had only recently become available. Learning of my risk wasn&#8217;t easy, but I knew it was something I couldn’t ignore. I had to educate myself.



<h2 class="wp-block-heading" id="h-a-family-conversation">A Family Conversation</h2>



After I learned of my risk, I did what a lot of people do when confronted with a health issue: I talked to my family. Alzheimer&#8217;s runs in families, so this was more than just seeking counsel; I wanted my sisters and my adult children to know that the risk I faced might be something they should be aware of as well. My older sister and two of my daughters tested and learned that they, too, carry the same genetic risk. They call this the <a href="https://www.cdc.gov/cascade-testing/about/?CDC_AAref_Val=https://www.cdc.gov/genomics/disease/cascade_testing/cascade_finding.htm">cascade effect</a> of genetic testing. One family member learns of a risk and can alert other family members to a potential risk they might not have known otherwise.



Beyond talking to family, I spoke to my doctor, who fortunately didn&#8217;t just brush it off. What followed was confirmatory testing, baseline testing for cognitive impairment — I had some — and referral to a neurologist. A brain scan revealed amyloid plaque build-up, a sign of the disease. 



<h2 class="wp-block-heading" id="h-a-clinical-trial">A Clinical Trial</h2>



I learned that I had early signs of Alzheimer&#8217;s. But I also knew I was a good candidate for a drug that was in clinical trials. I volunteered. I also learned that I was the perfect candidate for the drug Leqembi. The FDA approved Leqembi to treat people with early Alzheimer&#8217;s disease as a way to slow its progression. Knowing your APOE status is recommended before treatment because individuals with two copies of the APOE e4 variant have an increased risk for side effects. My older sister and I began infusion treatments together. 



The biggest takeaway for me is that, just like with cancer, the earlier a diagnosis, the better the odds of treating Alzheimer&#8217;s. And yet, often, people only learn that they have Alzheimer&#8217;s after symptoms become hard to ignore. However, by then, the disease has already caused significant damage. 



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



How many people are diagnosed with Alzheimer&#8217;s before significant cognitive impairment? Not many, unfortunately.



I was lucky. I had access to a genetic test that informed me of my risk early. I didn&#8217;t ignore it. I acted early with my doctor&#8217;s help. My hope lies in more people like me getting genetic testing, learning of their potential risk, and then following up and getting an early diagnosis. 



It&#8217;s given me the chance to use new treatments to stave off the erasure of my memories. I hope it will help prevent Alzheimer&#8217;s from robbing me of the stories that make up my life.



Rebecca Jones is a mother of four and grandmother of ten. She is retired and was formerly a marketing manager for a pharmaceutical company focused on oncology. She lives in Tulsa, Oklahoma.



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



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



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 



The Late-Onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the e4 variant in the APOE gene. It describes if a person has a variant associated with an increased risk of developing late-onset Alzheimer’s disease. The e4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.

The Power of Knowing

Editor&#8217;s note: For Juneteenth we&#8217;re republishing a post from earlier this year about connecting a woman and her family to the remains of a little girl buried among those of other enslaved African Americans near a historic iron furnace in Maryland. 



Agnes Jackson lives in Hagerstown, Maryland, near her four daughters and about 20 miles from the Catoctin Furnace, a historic site.&nbsp;



This long-ago shuttered iron smelter is one of the earliest industrial sites in the United States. The old iron furnace is on the edge of the Catoctin Mountain National Park, a verdant open space blanketed in forest and lined with hiking trails along the edge of the Blue Ridge Mountains.



<h2 class="wp-block-heading" id="h-an-iron-furnace">An Iron Furnace</h2>



The beauty of the place belies the brutal conditions that once made up the day-to-day lives of the free and enslaved African Americans who lived and worked there.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg" alt="A photo of Agnes Jackson." class="wp-image-32672" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1180x663.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes Jackson, as researchers explain her genetic connection to a girl buried at the historic Catoctin Furnace.</figcaption></figure>



Until recently, Agnes, who is 86, knew little of that history or her deep connection to those who lived and worked there.



Despite living so close, Agnes and her daughters visited Catoctin for the first time only about a year ago, soon after she learned about her family&#8217;s link to the site.&nbsp;



&#8220;We never knew,&#8221; Agnes said during a visit to the site last year.



With the help of the local archaeologist and president of the Catoctin Furnace Historical Society, Elizabeth Comer, and <a href="https://www.science.org/doi/10.1126/science.ade4995?adobe_mc=MCMID%3D36970045036454591841970885085615049025%7CMCORGID%3D242B6472541199F70A4C98A6%2540AdobeOrg%7CTS%3D1708709301">groundbreaking research</a> from scientists at Harvard, the Smithsonian, and 23andMe, Agnes and her family are seeing for the first time all the threads that connect them to this place and the people who toiled here.



Elizabeth, who perhaps has spent more time than anyone trying to document the legacy of the people who worked at the furnace, said adding the DNA component to this research connects this early American history to the living.



&#8220;What DNA does for the first time is connect a living, 21st-century family not just to Catoctin but to the cemetery,&#8221; she recently told Science magazine.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg" alt="Photo of Agnes and her daughters talking to Éadaoin Harney, and Elizabeth Comer." class="wp-image-32671" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">From left Éadaoin Harney, Elizabeth Comer, Agnes Green, her daughters Vicki Winston, Sharon Green, and Barbara Hart. </figcaption></figure>



<h2 class="wp-block-heading" id="h-groundbreaking-genetic-study">Groundbreaking Genetic Study</h2>



Earlier this month, Elizabeth and 23andMe scientist Éadaoin Harney visited with Agnes and three of her daughters, Sharon Green, Vicki Winston, and Barbara Hart, at a museum commemorating the Catoctin Furnace and the enslaved and free people who worked there.



Éadaoin was the lead author of a study published in the journal Science last year. The other researchers in the study included senior authors David Reich at Harvard and Doug Owsley at the Smithsonian. The researchers sequenced and studied genetic data from the remains of 27 anonymous enslaved and freed African Americans buried at the site. 



<figure class="wp-block-embed aligncenter 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="Catoctin + 23andMe" width="500" height="281" src="https://www.youtube.com/embed/FJ-wWvZVK94?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>



The remains were uncovered decades ago during a highway construction project and buried in an unmarked burial ground. Researchers noted that the genetically related individuals were clustered into five family groups: mothers, children, and siblings.



The study leveraged 23andMe&#8217;s extensive research database to find genetic connections between those anonymous individuals and more than 41,000 relatives, although most of whom are very distantly related. The paper broke new ground by providing a technical and <a href="https://blog.23andme.com/articles/ethics-and-the-study-of-historic-dna-catoctin-furnace">ethical benchmark for future studies</a> of similar, largely forgotten burial sites. Agnes and her family were the first of the living close relatives to be informed that they share a previously unknown genetic connection to a historical individual using the first-of-its-kind approach developed by 23andMe researchers for this study.



When the paper was published in August 2023, Carter Clinton, an African American geneticist at North Carolina State University, said the research was &#8220;significant for every African American in the country.&#8221;&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg" alt="A photo of the Catoctin Furnace" class="wp-image-32668" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h2 class="wp-block-heading" id="h-the-human-connection">The Human Connection</h2>



For Agnes, it was also personal. One of those family groups that the study identified at the Catoctin site included the remains of a young girl between the ages of two and three years old. There were few artifacts with the body, just some pins, nails, and screws found with her remains. The nails and screws were likely the only surviving remnants of the coffin she was buried in, and one of the pins was perhaps used to hold back the little girl&#8217;s hair, some of the researchers suspect. The other pins were likely used to fasten a burial shroud.&nbsp;



Comparing the genetic sequence of this little girl with Agnes, Éadaoin and the team of scientists saw a large amount of shared DNA, indicating they were relatively closely related. The most likely connection is with Agnes&#8217;s great-great-grandfather, Hanson Summers. It’s possible that Hanson and the girl were half-siblings or cousins.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg" alt="A photo of Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart." class="wp-image-32665" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart.</figcaption></figure>



Often, there is family lore, stories passed down from generation to generation, but it is rare for African Americans to trace back their family history, often hitting the brick wall of slavery. Often, historical records for those enslaved ancestors are spotty. Names may never have been recorded or are only partially recorded.&nbsp;



For Agnes&#8217;s family, it was no different. She knew nothing of her family&#8217;s connection to the iron furnace. That changed a few years ago during this study when researchers from the Catoctin Furnace Historical Society, who had been attempting for years to find living descendants, had their first success. Elizabeth helped connect Agnes&#8217;s family to the furnace using paper records and historical sleuthing. The connection was through her great-great-grandfather, Hanson &#8220;Henson&#8221; Summers, who&#8217;d been enslaved at the iron furnace site in the early 19th century.&nbsp;



<h2 class="wp-block-heading" id="h-a-family-s-history-and-american-history">A Family&#8217;s History and American History</h2>



The family, of course, knew that their ancestors had been enslaved. They knew he’d worked at the Antietam Furnace that operated in Hagerstown, but they didn&#8217;t know they were linked to the Catoctin Furnace until Elizabeth connected them. 



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg" alt="Photo of cannon balls produced at the Catoctin Furnace." class="wp-image-32670" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1180x665.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-768x433.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-880x496.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Among the many items produced at the Catoctin Furnace were cannonballs used by the Continental Army during the Revolutionary War.</figcaption></figure>



Hanson had been enslaved at Catoctin until he was in his 30s, at which point he and other members of his family were sold to the operators of the Antietam Furnace, according to the records. 



After the end of slavery, Hanson worked at an iron forge. Known for his strength and skill, he died in Hagerstown at 82 in 1899. Elizabeth&#8217;s work first found mention of Hanson in Maryland archives from 1834. His name was included on an inventory from Catoctin Furnace that included the names of enslaved African Americans. On it was a 17-year-old boy named &#8220;Henson.&#8221;&nbsp;



The Catoctin Furnace has a significant place in American history. 



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="168" src="http://35.88.189.111/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg" alt="A historic marker of the Catoctin Furnace" class="wp-image-32667" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-768x431.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1024x575.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-880x494.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1180x662.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



The first owner of the furnace was Thomas Johnson Jr. — a wealthy enslaver, the first non-colonial governor of Maryland, and a signer of the <a href="https://www.ushistory.org/declaration/related/assoc74.html">Articles of Association</a>, a precursor document to the Declaration of Independence. Iron production began in earnest in 1776. It contributed to the arming of the fledgling Continental Army — supplying 100 tons of shells for the Siege of Yorktown. While historians documented the industrial significance of the site, the history of enslaved workers there was not.&nbsp;



<h2 class="wp-block-heading" id="h-we-built-this">We Built This</h2>



Agnes and her family didn&#8217;t know their family’s contribution to that history. Agnes said that learning about her ancestors&#8217; contributions was important.



“Just to know that we actually were in history and that we made a difference,” she said. “We built this place.”&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg" alt="A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace." class="wp-image-32669" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Touching the burial ground.</figcaption></figure>



That history might have remained lost had it not been a forgotten burial ground, which had been unearthed in the 1970s during a freeway construction project. Archaeologists found the remains of more than 30 individuals buried there. No records existed of who those individuals were. Over the years, the Catoctin Furnace Historical Society has worked to preserve the history of the site and the people who worked there. Only with the advent of ancient DNA technology did an effort to learn more about the DNA of individuals begin.&nbsp;



This study offered the <a href="https://blog.23andme.com/articles/historical-dna-connection-to-early-enslaved-and-free-african-americans">first genetic link</a> between enslaved or freed African Americans working at the furnace and their living relatives, including Agnes.



&#8220;It&#8217;s so exciting to see my tree… to learn more about our ancestors,&#8221; Agnes said. It&#8217;s always good to know where we came from.&#8221;

A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace.

23andMe Connects Living Family to Enslaved African American from Historic Site

Maybe it&#8217;s genetics, maybe not, but Hannah and her dad, Oscar, both share interests in science and athletics.



Hannah is an avid runner. Her dad has always been active, whether it&#8217;s playing soccer or distance cycling. A patent lawyer by profession, Oscar is also captivated by science and holds a master&#8217;s degree in applied molecular biology. 



For her part, Hannah, a genetic counselor at Lemonaid Health, Inc., part of the 23andMe family, can&#8217;t remember a time when she wasn&#8217;t interested in genetic science. It happened early after her identical twin younger brothers were born. 



&#8220;I actually used 23andMe back in 2015,&#8221; Hannah said. &#8220;But I&#8217;ve been interested in genetics my whole life. I&#8217;m captivated by the intersection of genetics and health.&#8221;



That sort of sums up her dad&#8217;s outlook, too. Along with their shared interest, Hannah and her dad learned from using 23andMe that they shared something else: an increased genetic likelihood of developing type 2 diabetes. 



<h2 class="wp-block-heading" id="h-like-father-like-daughter">Like Father, Like Daughter</h2>



We wanted to share Hannah and Oscar&#8217;s story for Father&#8217;s Day this year. Hannah gifted her dad a 23andMe kit that revealed health insights that benefited both of them.



&#8220;You have these two generations of individuals,&#8221; Hannah said. &#8220;Myself, and my father, and we all have this in common. Knowing that helps to highlight how important it is for us to each have a healthy lifestyle and remain active.&#8221;



<h2 class="wp-block-heading" id="h-an-unexpected-risk-addressed">An Unexpected Risk Addressed</h2>



Hannah and her dad are fit, lean, healthy, and active. You might not expect that they had this predisposition toward type 2 diabetes. But like most health conditions, type 2 diabetes is influenced by several factors, including genetics, diet, activity levels, and whether one can maintain a healthy weight. 



Sometimes, a person&#8217;s ancestry and family history is also essential in understanding a predisposition for certain conditions. Rates of type 2 diabetes are higher among people with African, Indigenous American, Asian, Latino, and Pacific Islander ancestry. Oscar is Filipino. 



One key indicator for those at risk for type 2 diabetes is a blood test called hemoglobin A1C (HbA1C). It measures a person’s average blood sugar (glucose) level.



&#8220;I make sure that every year I get a blood test, and one of the first things I do is check my A1C number because it is high,&#8221; Oscar said. &#8220;It&#8217;s something I watch along with my diet.&#8221;



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



Because Hannah&#8217;s A1C numbers have been up and down, her doctor has recommended getting tests every six months. 



This has been important for her health. However, Hannah also said it perfectly illustrates what she does almost every day as a genetic counselor—reminding people that their health is influenced by the interplay of their genetics, lifestyle, and environment. Understanding that and your family health history can go a long way to understanding what you should be aware of and actions you could take toward prevention. 



Like her dad, it motivates her to make healthier choices and avoid processed foods and too much sugar. Seeing that she has a genetic predisposition is also motivating.



&#8220;I feel like that&#8217;s the real power of these results in a preventative sense,&#8221; she said. &#8220;The genetic result gives clarity, puts it front and center, and motivates me. It&#8217;s very powerful.&#8221;



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



Explore how genetics impacts your health and the traits you share with your family. Find out <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe has to offer here</a>.

Hannah and Her Father

It&#8217;d been 43 years since the last time Kim held her son.&nbsp;



In all those decades, she wondered what had happened after she&#8217;d given him up in a private adoption as a scared 15-year-old girl. Kim&#8217;s life turned out well: She married and has two wonderful daughters and grandkids, but the thought of her son and the questions never left her.&nbsp;



<h2 class="wp-block-heading" id="h-a-good-person">A Good Person</h2>



Did he have a good life? Did his parents love him? Was he happy?



&#8220;You know, the only thing I could ever think about in my head was, &#8216;I just want him to be alive and be a good person,'&#8221; Kim said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="284" height="300" src="http://35.88.189.111/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png" alt="Kim and her son Jason soon after meeting in person for the first time." class="wp-image-32850" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png 284w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-768x813.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-968x1024.png 968w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-832x880.png 832w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason.png 1066w" sizes="auto, (max-width: 284px) 100vw, 284px" /></figure>



With the help of 23andMe and her daughter Jenny, Kim could answer those questions. Most importantly, she was able to embrace her son, Jason, for the first time and see the wonderful father and person he&#8217;d become.&nbsp;



Their first in-person meeting was at a gas station near Des Moines, a random halfway point between where Kim had been in Minnesota and Jason in Missouri. Kim found a friendly cashier to record the moment on her cellphone, and you can hear the cashier’s sweet comments while she’s filming.&nbsp;



<h2 class="wp-block-heading" id="h-a-long-embrace">A Long Embrace</h2>



In the video, you can see their minute-long embrace in the aisles between the chips and soda fountain and the emotion welling up in them. Kim cries and pulls back to look into Jason&#8217;s eyes and touch his cheeks as the two — mother and son — soak in the moment.



For Jason, it was the first time he had looked at someone besides his kids who looked like him. 



<figure class="wp-block-embed aligncenter 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="Kim and Jason First Hug" width="500" height="281" src="https://www.youtube.com/embed/ERbWCvwZ-Ao?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>



&#8220;That was like, &#8216;Wow,'&#8221; he said.



Their story was unexpected for both of them. Jason always knew he had been adopted, but he wasn&#8217;t looking for his biological parents. Raised in a loving Midwest home with four siblings, who also were adoptees, Jason didn&#8217;t feel the need to go searching. He had questions, but he wasn&#8217;t looking.&nbsp;



Then, in late 2022, his wife, Elizabeth, gave him a 23andMe kit for Christmas. The two, who met and fell in love in high school, have three children and one grandchild. Elizabeth survived a breast cancer battle starting in 2019, and now in their 40s, the couple wanted to know more about their health.&nbsp;



<h2 class="wp-block-heading" id="h-looking-for-health-information">Looking for Health Information</h2>



Jason, who had no family health history, thought it was vital for him and his children.



&#8220;If you grew up with a mom and dad and brothers and sisters and aunts and uncles and grandparents, you&#8217;d know if there was anything you should be aware of,&#8221; he said.



Jason used 23andMe to see if he had any genetic predispositions that would concern him or his three children and one grandson.



&#8220;So, the motivation was, &#8216; Let&#8217;s (learn more) for (the kids) sake,’&#8221; he said.



He did get some health information indicating a higher likelihood of developing type 2 diabetes, but he&#8217;d also opted into DNA Relatives. Opening DNA Relatives, he saw someone matched as a predicted niece. He messaged her almost immediately, and he got a response.



&#8220;I&#8217;m not your niece. I&#8217;m your half-sister. Our mom&#8217;s name is Kimberly.&#8221;



<h2 class="wp-block-heading" id="h-someone-searching-for-me">Someone Searching for Me</h2>



Kim&#8217;s daughter Jenny knew all about her mom giving up a son at 15. She was able to fill Jason in on his biological mom&#8217;s life.



&#8220;It was unbelievable, you know, because I wasn&#8217;t looking for one, and it happened so fast,&#8221; Jason said. &#8220;It was literally within a minute or two that she responded, which blew my mind.&#8221;



The two quickly connected on the phone and talked. Jenny was in Nebraska, and Jason was at home in Missouri. So much was loaded into Jenny&#8217;s response and their conversation on the phone.



&#8220;Like, I just had no idea that there was somebody out there looking for me, you know? So, yeah, it&#8217;s hard to imagine all that when you&#8217;re an adoptee,&#8221; Jason said.



<h2 class="wp-block-heading" id="h-mom-are-you-sitting-down">Mom, Are You Sitting Down?</h2>



They&#8217;d talked in the evening, but Jenny waited until morning to call Kim.



&#8220;Mom, are you sitting down,&#8221; she said.



Kim, concerned something was terribly wrong, sat down and braced herself. Her husband stood by, concerned.



&#8220;Mom, I found your son,&#8221; Jenny said.



&#8220;We were both crying and talking,&#8221; Kim said. It took me a while to catch my breath, but as soon as I did, I called (Jason), and it&#8217;s been like it was all meant to be.&#8221;



They eventually arranged to meet in person. Kim and her husband now live in Florida but had been in Minnesota and were on a road trip to see their daughter in Nebraska, so she and Jason arranged to meet at a road stop gas station about midway.&nbsp;



<h2 class="wp-block-heading" id="h-building-a-relationship">Building a Relationship</h2>



For Kim, getting to know Jason, learning about his upbringing, meeting his family, and having them embrace her has given her peace. She&#8217;s building relationships with them that are expanding her family. Jason and his wife have visited Kim and her husband in Florida. They all spent time with Jason&#8217;s family in Missouri.



&#8220;His entire family was there to meet us, and I cannot tell you how nervous I was to meet them, but I got the best hugs and love from everybody,&#8221; Kim said. &#8220;I&#8217;m so thankful these lovely people adopted Jason.&#8221;



They&#8217;re trying to build new family traditions, but Kim said there isn&#8217;t a rush.



&#8220;I don&#8217;t need to hurry anything,&#8221; she said. &#8220;We&#8217;re a family now. We&#8217;re together, and we&#8217;re not going anywhere.&#8221;



Jason knows that many adoptees never get the opportunity to meet their birth mom or build a relationship. Maybe they never connect; if they do, it isn&#8217;t a welcoming experience.&nbsp;&nbsp;



&#8220;I didn&#8217;t even realize anything was missing in my life, but now I feel complete.&#8221;



<h2 class="wp-block-heading" id="h-discover-more-with-23andme">Discover more with 23andMe</h2>



Not everyone is searching for family, but <a href="https://www.23andme.com/dna-ancestry/">23andMe&#8217;s Ancestry Service </a>can help you learn your genetic connections to more than 3000 geographic regions or your connections to DNA Relatives with whom you share DNA. 



If you want to go deeper, <a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry</a> gives you all the great insights of the Ancestry Service, plus more than 150 personalized reports with information to help you manage your health. 



Learn more about <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe offers here</a>.

A Mother and Son Reunion

Emily&#8217;s deep curiosity drew her to try 23andMe, but she didn&#8217;t anticipate being floored by what she would learn.



&#8220;I was interested in the health information, of course,&#8221; said Emily, a mother of three who runs a small business and farm in Ohio with her husband. &#8220;But I guess the bigger part of why I tested is I&#8217;m just curious. I&#8217;m interested in history, genealogy, science, and the fun stuff that DNA can tell you. I didn&#8217;t expect this.&#8221;



Her results offered her a layer of information about her health and traits, and then something entirely unexpected expanded what she understood about herself and her family.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="769" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg" alt="" class="wp-image-32429" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-scaled.jpeg 1923w" sizes="auto, (max-width: 769px) 100vw, 769px" /></figure>



She first focused on the health reports when she got her results in early 2023. Emily, who is in her 30s, was increasingly aware that prevention was a much better approach to her health than simply treating something after you&#8217;ve already gotten sick. She wanted to know if she had any genetic health risks for things like <a href="https://blog.23andme.com/articles/23andme-updates-brca1-2-report">breast and ovarian cancer</a>*, <a href="https://www.23andme.com/en-eu/topics/health-predispositions/hereditary-thrombophilia/">blood clots</a>*, or her likelihood for certain <a href="https://blog.23andme.com/articles/heart-health-2">heart </a>conditions that she should know about and try to prevent with the help of her doctor.&nbsp;



She learned instead that she had an increased genetic likelihood for type 2 diabetes. It surprised her because she&#8217;s active and in good shape. But while lifestyle and diet play a significant role in whether one develops type 2 diabetes, genetics is also a factor.



&#8220;It&#8217;s something for me to keep an eye on and take seriously,&#8221; said Emily, who is very health conscious. &#8220;That was probably the most valuable health information for me.&#8221;



<h2 class="wp-block-heading" id="h-a-dna-surprise">A DNA Surprise</h2>



After learning a bit more about her health, Emily turned to her ancestry reports. That was when her jaw hit the floor.



&#8220;I saw that I shared 25 percent of my DNA with someone I didn&#8217;t know,&#8221; Emily said.



Customers have the option of opting into the DNA Relatives feature. DNA Relatives connects customers to other 23andMe customers who have also opted in, from close relatives to more distant third or fourth cousins.



In Emily&#8217;s case, she and an unknown relative named Eric shared 25 percent of their DNA. The DNA Relative feature predicted Eric was her uncle. Emily is in her 30s, while Eric is in his 50s. She called her sister.&nbsp;



At first, she wondered if maybe her grandfather had had a child they never knew about, but quickly looking at a dropdown list of other relatives who share 25 percent, she saw that half-brother was one of them. That made more sense. Then, she read the information Eric shared in his profile. He had been adopted and didn&#8217;t know much about his birth parents, only that his mom was a teenager when he was born.&nbsp;



Emily wanted to understand the connection, so she sent Eric a message.&nbsp;



<h2 class="wp-block-heading" id="h-a-conversation-begins">A Conversation Begins</h2>



Eric responded quickly, and the two exchanged messages back and forth before getting on the phone to talk the next day. They quickly determined that Eric was Emily&#8217;s half-brother.



&#8220;I never dreamed I&#8217;d find a brother,&#8221; she said.



They quickly determined that perhaps when Emily&#8217;s dad was a 16-year-old high school student, he&#8217;d fathered a son he didn&#8217;t know about. Eric knew his birth mother&#8217;s name. Many years ago, he&#8217;d tried to contact her or her family, but her family turned him away.&nbsp;



He learned that she had passed away sometime after he&#8217;d reached out to her family. Emily wanted to see if her dad knew the name, so she found time to talk to her dad privately. She asked him if he remembered the woman&#8217;s name. He did. She told him about Eric. He was surprised but not as surprised as she thought he&#8217;d be. They then told Emily&#8217;s mom.&nbsp;



Emily&#8217;s dad then explained that he&#8217;d had a girlfriend for two years in high school. They were both very close. Her dad had had a rough couple of years after his mom had died when he was 12. He was kind of on his own, and at least from the outside, it might not have looked like he had a future. At some point, after he&#8217;d been in a bad car accident, his girlfriend&#8217;s father asked him what his intentions were toward his daughter. He&#8217;d told him he had strong feelings for her, but soon after that, the family moved. The relationship ended after that. Looking back, Emily said her father thinks that maybe his girlfriend&#8217;s parents whisked her away, fearing their daughter might marry someone with few prospects. It wasn&#8217;t long after that she had Eric and put him up for adoption.&nbsp;



<h2 class="wp-block-heading" id="h-building-family-nbsp">Building Family&nbsp;</h2>



While Emily wanted to be careful and sensitive during this process, she felt that her mom and dad were open to talking about it all and even to Eric.&nbsp;



At some point, after learning more about the back story, Emily got Eric on the phone.



After talking with everybody, Emily gave her dad some private time to talk to Eric and answer some of his questions.



&#8220;Hearing that they all appreciated how I handled it was important for me,&#8221; Emily said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg" alt="" class="wp-image-32426" style="aspect-ratio:1;object-fit:cover" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-scaled.jpeg 1923w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Not too long after, they all met at a park and had coffee. Soon, they were talking regularly. Emily&#8217;s dad, who liked to write poems, sent a couple of letters to Eric with poems he&#8217;d written. It was something he&#8217;d done for a long time for his daughters. Now they talk almost every day. A few months in, Eric and his wife came over for a cookout to meet the extended family, cousins, aunts, and uncles.&nbsp;



&#8220;Everyone welcomed him right away,&#8221; Emily said. &#8220;It&#8217;s like family now.&#8221;



<h2 class="wp-block-heading" id="h-building-relationships">Building Relationships</h2>



But they are all still getting to know each other. Emily and her sister and relatives immediately noticed the resemblance. Eric does look like one of Emily&#8217;s uncles. Everyone said he was family once they saw his picture or him in person. 



But there are other things beyond appearances. Eric owns a print shop, and there&#8217;s an artistic bent in the family, Emily said. There are mannerisms and this enormous love of animals that they all share. Eric has several dogs. Emily owns a menagerie of animals on the farm and is especially fond of parrots. Over time, Eric started referring to their dad as Pop, which Emily and her sister&#8217;s children call their dad. It also happens to be how people once shortened their Slovak last name. It&#8217;s as if they were all meant to connect.



&#8220;There are familial similarities, personality, ways we interact, and things,&#8221; said Emily. &#8220;There hasn&#8217;t been any awkwardness.&#8221;



<h2 class="wp-block-heading" id="h-connecting-it-all">Connecting it all</h2>



Emily is most proud that what could have been difficult or potentially painful was the opposite. She understands that this kind of family surprise doesn&#8217;t always end well. It can mean different things to different people.



She points out that Eric, who didn&#8217;t have connections to their biological family, is learning things many of us take for granted.&nbsp;



&#8220;Our genetics say so much about us and our family,&#8221; said Emily. &#8220;I mean, for someone who is adopted, knowing this health stuff can be so important. How would an adoptee know if, say, their grandfather had a thyroid condition or their dad had diabetes?&#8221;



But then there are many seemingly little things, &#8220;breadcrumbs,&#8221; as Emily says, that suddenly resonate or give context to their lives—things like personality, interests, and even their Slovak heritage.



&#8220;For him, it&#8217;s probably more helpful than I can imagine,&#8221; she said.



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



<h2 class="wp-block-heading" id="h-disclaimer">Disclaimer</h2>



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports that are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks and report carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. 



Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.&nbsp;



<h2 class="wp-block-heading" id="h-warnings-amp-limitations-nbsp">Warnings &amp; Limitations:&nbsp;</h2>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. 



This report does not represent most of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers. The absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info/

Using DNA to Explore Health and Family Connections

Our customers have redefined prevention for us over the years. Hundreds of them have written to us, telling stories of how they’ve become the hero of their health journey. 



We are continually so inspired by their stories we recently launched a new campaign called The Hero Gene that celebrates some of those customers in their own words.



<h6 class="wp-block-heading" id="h-kenzie-and-shannon-s-brca1-story">Kenzie and Shannon’s BRCA1 Story</h6>



Kenzie and her mom, Shannon, are closer than the average mother and daughter, sharing a love of traveling together and their favorite foods. Kenzie knew there was Ashkenazi Jewish heritage in her background, but with no family history of breast cancer, she did not think there was a need to get screening for BRCA variants. Through 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report,* Kenzie learned she had a BRCA1 variant that put her at a greatly increased risk of developing breast and ovarian cancer.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1011" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg" alt="Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie's 16th birthday." class="wp-image-31684" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg 1011w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-296x300.jpeg 296w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-768x778.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-869x880.jpeg 869w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1165x1180.jpeg 1165w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1.jpeg 1170w" sizes="auto, (max-width: 1011px) 100vw, 1011px" /><figcaption class="wp-element-caption">Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie&#8217;s 16th birthday.</figcaption></figure>



Women with one of these variants have a <a href="https://www.23andme.com/brca">45-85 percent chance</a> of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. One of her first thoughts was, “Could my mom have cancer and not know it?” 



Kenzie immediately knew she had to call her mom.&nbsp;&nbsp;



“Mom, I have this gene, and I think you need to get tested.” 



Shannon made an appointment with her oncologist, where she shared the news about Kenzie’s report.  The oncologist referred her to a genetic counselor, who immediately set Shannon up for genetic testing. In addition, the genetic counselor suggested Kenzie talk to her doctor right away for follow-up testing.  After doing so, both were able to take steps to minimize their risks. While Kenzie is opting to go for a less aggressive route of frequent scans and discussing family planning options, Shannon (a cancer survivor) decided to go ahead with preventative surgeries to lower her risk of developing BRCA-associated cancers.  



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="683" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg" alt="A phot of Kenzie and her mom Shannon." class="wp-image-31685" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-200x300.jpeg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-768x1152.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-587x880.jpeg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-787x1180.jpeg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-scaled.jpeg 1707w" sizes="auto, (max-width: 683px) 100vw, 683px" /><figcaption class="wp-element-caption">Kenzie, left, with her mom Shannon.</figcaption></figure>



The experience has taught both women how important it is to educate themselves about their health risks, to be proactive about their well-being, and to advocate for themselves to ensure they get the care they need.&nbsp;



“Kenzie’s test and me being able to find out that I was BRCA positive was lifesaving,” said Shannon.&nbsp;



As they prepare to share another holiday together, closer than ever, Kenzie couldn’t help but beam when talking about Shannon, “I&#8217;m really proud of my mom, she&#8217;s taken her health into her hands. Her life is the most important thing to me. She wanted to show me that she will survive.”



<figure class="wp-block-embed aligncenter 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">
https://www.youtube.com/watch?v=bI6nxWiqpGE
</div></figure>



<h6 class="wp-block-heading" id="h-melissa-s-f5-story">Melissa’s F5 Story</h6>



Melissa developed symptoms of a pulmonary embolism (PE), a blood clot in the lung, after a cross-country flight from Washington to Boston for a nurses conference. As a nurse, Melissa knew her symptoms weren&#8217;t typical but knowing she had an increased likelihood to develop harmful blood clots based on a factor V Leiden variant found by her 23andMe Hereditary Thrombophilia Genetic Health Risk report* prompted her to go to the ER before taking a return flight home.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-2.jpg" alt="" class="wp-image-32365" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



Trusting her nurse’s instinct, she pushed to get evaluated a PE. 



“I am not typically … insistent, but I was really insistent on this. I am absolutely sure it&#8217;s going to happen again and I may not have another chance. And I wasn&#8217;t willing to take that chance again.” They confirmed via a blood test and CAT scan that she had developed a PE.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-1.jpg" alt="" class="wp-image-32364" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



She began taking a blood thinner right away so she could fly home. Melissa credits her knowledge of the gene with empowering her to take her health into her own hands, which means even more this time of year.  “My family is sacred to me. It truly is all that matters. I would not have been able to meet my new granddaughter. I truly believe I’m here because of 23andMe. Because I was aware of that gene, and my doctors were aware of that gene, that continues to save my life.”



<figure class="wp-block-embed aligncenter 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">
https://www.youtube.com/watch?v=-zLbFwbXH7c
</div></figure>



<h6 class="wp-block-heading" id="h-which-gene-could-empower-you">Which gene could empower you?</h6>



As we’ve heard from these and so many more customers, prevention doesn’t have to be a burden. In fact, it shouldn’t be a burden. Prevention is about advocating for yourself, and your health, so you can continue to live an incredible life for you, your family and friends. That starts with genetic insights that could lead to early detection. We hope you find your customer story. Your gene or genes that empower you, inspire you, help you and that could potentially save your life at the time you need the information most. #prevention



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



<h6 class="wp-block-heading" id="h-note">Note</h6>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is&nbsp; not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 



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



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info.&nbsp;

Your Hero Gene

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3114" title="bloodcells" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg" alt="bloodcells" width="290" height="215" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/bloodcells.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/bloodcells-300x223.jpg 300w" sizes="auto, (max-width: 290px) 100vw, 290px" />
Doctors routinely order the complete blood count (CBC) for their patients because they can learn a lot about a person&#8217;s health by measuring the numbers of different types of blood cells in the circulation, their sizes and the ratios between them.
One component of the CBC is usually a measure of the total amount of hemoglobin, the oxygen carrying protein found in red blood cells.   Low levels of hemoglobin can be a sign of nutritional deficiency, autoimmune disease or bone marrow problems, and may result in fatigue, irregular heartbeat and poor growth in children.   Abnormally high levels of hemoglobin can be caused by heart failure, COPD or kidney cancer and are associated with increased risk of stroke.
New research published online in the journal <a href="https://dx.doi.org/10.1038/ng.462" target="_blank" rel="noopener noreferrer">Nature Genetics</a> this week identifies two SNPs that account for a small amount of the variation in hemoglobin levels seen in the population and may help scientists find new ways to treat blood disorders.
John Chambers and colleagues analyzed the DNA from more than 11,000 Europeans in England and Finland and more than 16,000 Indian Asians living in London.   They found and both impacted hemoglobin levels.
In both the European and Indian study groups, each A at and each G at led to an approximately 0.1 gram per deciliter (g/dL) decrease in hemoglobin levels. The normal range for hemoglobin levels in adults is 12 to 18 g/dL.
Approximately 25% of the world&#8217;s population has hemoglobin levels low enough to be considered anemic.   The <a href="http://www.who.int/nutrition/publications/micronutrients/anaemia_iron_deficiency/9789241596657/en/index.html" target="_blank" rel="noopener noreferrer">World Health Organization</a> has deemed anemia a severe public health problem in India.   Although nutritional iron deficiencies are a large part of the problem in this and other countries with high levels of anemia, it is interesting to note that the versions of and that lead to lower hemoglobin levels were found at higher frequencies in the Indian study subjects.
Both SNPs identified in this study are in or near genes involved in regulating the body&#8217;s iron levels. One of the SNPs is near the HFE gene.   Mutations in this gene cause hereditary hemochromatosis, a condition that can result in iron overload.   The researchers found, however, that the effect of is not related to these mutations. Another SNP is located in the TMPRSS6 gene.   Mutations in this gene have been shown to cause a serious form of anemia that does not respond to treatment with oral iron supplements.   Chambers says that learning more about how this gene contributes to hemoglobin levels could lead to new treatments for people suffering from chronic hemoglobin problems.
&#8220;The enzyme protein produced by the TMPRSS6 gene is a good target for drug development. Designing a drug that enhances TMPRSS6 activity could augment hemoglobin in people such as cancer and kidney failure patients, who suffer from chronically low levels. A different drug that blocked TMPRSS6 enzyme production might bring down high hemoglobin levels,&#8221; he said in a statement.
Several other reports published online this week in Nature Genetics (<a href="https://dx.doi.org/10.1038/ng.456" target="_blank" rel="noopener noreferrer">Benyamin et al.</a>, <a href="https://dx.doi.org/10.1038/ng.467" target="_blank" rel="noopener noreferrer">Soranzo et al.</a> and <a href="https://dx.doi.org/10.1038/ng.466" target="_blank" rel="noopener noreferrer">Ganesh et al.</a>) also examined genetic contributions to blood traits.   These will be covered later this week here in the Blog.   Benyamin et al. and Ganesh et al. also both found evidence for an association between and hemoglobin concentration.

Genetic Variations Influencing Hemoglobin Levels Identified

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3655" title="anopheles_gambiae" src="https://blog-api.23andme.com/wp-content/uploads/2009/05/anopheles_gambiae.png" alt="" width="350" height="196" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/05/anopheles_gambiae.png 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/05/anopheles_gambiae-300x168.png 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Malaria is one of the leading causes of death in the developing world, claiming nearly a million victims each year. The great majority of them are African children below the age of five. The illness is caused by a single-celled parasite called Plasmodium that is transmitted by mosquito bites to humans. In a paper published today in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.388.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, a group of African and British doctors and scientists report on their study of the genetic roots of malaria susceptibility. They found no new smoking gun with this effort, but learned much about how to improve African genetic studies in the future.

The researchers gathered the SNP genotypes of 2,500 children, with the consent of their parents, from a small region in The Gambia. About 1,000 of the children had been admitted to the hospital with a case of severe malaria – the other 1,500 were newborns. In a <a href="https://www.genome.gov/20019523" target="_blank" rel="noopener noreferrer">genomewide association study</a>, the researchers checked each of a half-million SNPs (single nucleotide polymorphisms) for sharp differences in genetic composition between the group of children suffering from malaria and the group of newborns, who served as an approximation of a malaria-free group. If one version of an individual SNP was seen at high frequency among the malaria victims, but at low frequency in the newborns, then the difference might be because the SNP tends to cause malaria or is nearby one that does.
Upon scanning their data, the researchers came up more or less empty-handed: by the usual standards of the field, none of the 500,000 SNPs would pass muster.
This deflating result stands at odds with what is known already about the genetics of malaria susceptibility. Most people who have taken a biology class learn that human populations in malarial regions have developed a natural immunity to malaria infection, not through their immune systems, but through a genetic modification of hemoglobin. Hemoglobin is a molecule charged with ferrying oxygen from your lungs (and the lungs of most life forms that have them) to all your cells, an essential task. Biologists have traced hemoglobin-based malaria resistance to a change at a single DNA base pair on chromosome 11 – wouldn&#8217;t we expect at least this SNP to light up as significant?
In truth, the failure wasn&#8217;t so surprising; it arises from the interplay of genetics with our species&#8217; history. Humans first arose in Africa, so that&#8217;s where genetic variation has had the longest time to build up. Modern-day Asian, European, and Native American people descend from people who emigrated from Africa about 50,000 years ago. These migrants carried just a subset of the African gene pool with them, so non-African populations today have much less &#8220;well-mixed&#8221; genomes than African populations. The present study uses genotyping chips developed for use in European populations, and its failure to find the known hemoglobin SNP (which isn&#8217;t even genotyped by the chip) and other known genetic contributors to malaria resistance is essentially due to the fact that you&#8217;d need more like two million SNPs than half a million to do the job right.
The solution, you&#8217;d think, is just to make a chip with a lot of markers for specific use in Africa, and be done with it. But the authors show that African genomes appear to be mixed so well that no single such chip could be designed. Instead, they propose an alternative approach: use a good but inevitably suboptimal African SNP chip in your full study sample, then obtain full genome sequences from a small number of the members of that sample. Then, using a powerful statistical method called imputation, you use the full sequences of the smaller group to fill in the full genomes of the entire study sample based on their SNP genotypes. This approach, as the authors demonstrate convincingly in the case of hemoglobin-based malaria resistance, would provide a statistically powerful and economically viable means of tracking down the causes of some of the most challenging health problems of our time.

hemoglobin