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



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



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



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



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



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



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



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



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



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



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



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



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

A Big Step Forward for Patient Safety

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

<div class="wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-6c531013 wp-block-group-is-layout-flex">
This October, for Breast Cancer Awareness Month, we will be sharing some of the latest research on this important topic.
</div>



What if the same genetic factors that put you at higher risk for developing cancer could potentially increase the chances you&#8217;d survive longer if you do get cancer? This counterintuitive possibility is exactly what researchers discovered in a groundbreaking collaboration between the 23andMe Research Institute and the Dana-Farber Cancer Institute.



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



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



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



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



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



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



Why might this be the case?&nbsp;



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



Why are certain populations combined?



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



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



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



Why are some reference panels smaller than before?



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



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



Why is there no Indigenous Caribbean population?



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



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



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



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



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



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



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



Why did the colors change?



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



Who will get this update?



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



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



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



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

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

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



But that is now changing.



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

A Major Leap Forward in Understanding the Genetics of OCD

The FDA cleared 23andMe <a href="https://www.23andme.com/therapeutics/">Therapeutics</a> to begin dosing patients with advanced solid tumors as part of a Phase I clinical trial for a new investigational cancer drug.&nbsp;



This clinical trial, to begin later this year, will be the Company&#8217;s second clinical trial for a cancer drug. The first, 23ME-00610, <a href="https://investors.23andme.com/news-releases/news-release-details/23andme-initiates-phase-1-clinical-trial-first-wholly-owned?_gl=1*6ipvci*_ga*MTQxMjAyNTMyNC4xNzA0OTE0NjI0*_ga_G330GF3ZFF*MTcwNjEzOTU1Mi41LjEuMTcwNjEzOTk4My4wLjAuMA..">begun in early 2022</a>, is now enrolling patients in the Phase 2a portion of its Phase 1/2a  clinical trial. 



<h2 class="wp-block-heading" id="h-the-new-investigational-cancer-treatment">The New Investigational Cancer Treatment</h2>



The new drug, 23ME-01473, or ‘1473, is designed to restore anti-tumor immunity by activating two types of immune cells — Natural Killer (NK) cells and T cells. It binds to ULBP6, a protein that binds to the immune-activating receptor NKG2D on NK and T cells.



&#8220;The team is excited to initiate our next immuno-oncology program, ‘1473, which is particularly interesting given its two mechanisms of action, which may synergize to enhance NK and T cell immunity against certain tumors,&#8221; said Jennifer Low, MD, Ph.D., Head of Therapeutics Development at 23andMe.



Typically, cells express ULBPs on their surface in response to a stressor such as an infection or cancer to signal to NKG2D on immune cells that there is an abnormality. However, some cancers shed ULBP6 from the cell surface, which acts as a decoy to evade immune cell recognition through NKG2D.



<h2 class="wp-block-heading" id="h-immune-activation">Immune Activation</h2>



By binding the shed ULBP6, immune activation through NKG2D activation may restore the immune cells&#8217; ability to recognize and fight cancer. 



Additionally, the fragment crystallizable (Fc) region of &#8216;1473 is designed to further promote cancer cell killing by immune cells, offering another mechanism for anti-tumor activity.



Part of 23andMe Therapeutics&#8217; mission is to create new treatments to address unmet needs. The hope is that ‘1473 could help cancer patients with tumors resistant to other therapies. Combining NK and T cell activation as part of this process could initiate a broader and deeper immune system response and delay tumor resistance, often seen with traditional checkpoint inhibitor treatments for these cancers.



As with other Phase 1 clinical trials, this one will assess safety and identify a safe and efficacious dose level and frequency for this newly developed drug in a small group of cancer patients.



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



Learn more about <a href="https://therapeutics.23andme.com/">23andMe Therapeutics</a>, its <a href="https://therapeutics.23andme.com/pipeline-programs/">pipeline, and programs</a> at the updated website <a href="https://therapeutics.23andme.com/about/">here</a>.

23andMe’s Second Clinical Trial of New Investigational Cancer Treatment

<a href="https://www.nature.com/articles/s42003-023-05241-y">A study by scientists from 23andMe’s Therapeutics</a> team offers new insights into the structural properties of nanobodies, a type of antibody but with a different structure and shape making them much more adaptable for drug development. The findings from this new study could help in developing targeted therapies, new treatments, and new diagnostic tools.



“By combining 3D structural information of antibodies with the genetic information we gained a unique insight on how the immune system functions to generate nanobodies,” said Patrick Koenig, director in <a href="https://www.23andme.com/therapeutics/">23andMe Therapeutics</a>’ Antibody &amp; Protein Engineering team and lead author of the study. “We believe using this deeper understanding will help us to generate better nanobody-based drugs faster.&#8221;



<h6 class="wp-block-heading" id="h-first-line-of-defense">First Line of Defense</h6>



Antibodies, produced in B-cells, are our bodies’ first line of defense against disease. They attack infection, or malignant growths. These and other foreign invaders, known as antigens, trigger an immune response and the production of antibodies that defend against them.&nbsp;



Drug hunters have long enlisted antibodies in their search for new treatments and diagnostics for disease. The quest for scientists is to help our bodies create antibodies that target specific cancers, diseases, or infections, while leaving healthy cells alone.



<h6 class="wp-block-heading" id="h-camels-llamas-and-alpacas">Camels, Llamas and Alpacas</h6>



For more than three decades drug hunters have leaned heavily on an unlikely ally in this effort, camelids — camels, llamas, and alpacas — as part of this quest for new targeted therapies. These animals, and a few others, produce slightly different types of antibodies.&nbsp;



Camelids produce antibodies that are smaller — hence the name nanobodies — and have a different shape. The distinctive shape is described in their name single-variable, heavy chain-only antibodies. They are also known as VHH antibodies or nanobodies, but the long name is a reference to their shape and size. That difference in shape and size — especially at the distinctive Y-shaped tips of these nanobodies — makes them much more adaptable. Nanobodies more easily fit and bind to proteins that block viruses and other invaders from infecting cells in the body. 



In 2019 the FDA approved the first treatment developed from a nanobody for use against a rare blood disorder.



<h6 class="wp-block-heading" id="h-kinked-and-extended">Kinked and Extended</h6>



The VHH nanobodies can be grouped into two types based on their 3D shape. One has a distinctive kinked end, the other has an extended end. Understanding the structure of these nanobodies — why they are shaped the way they are, and the process involved in how they are formed — could help scientists engineer nanobodies with improved characteristics tailored to fight against certain diseases.



The study was published in the journal <a href="https://www.nature.com/articles/s42003-023-05241-y">Communication Biology</a>. The research, completed by scientists in 23andMe’s Therapeutics team, offers insights into how the different shapes of nanobodies are formed. It also illustrated how those nanobodies interact differently with antigen to perform their binding function. The study indicates that the structure of these nanobodies are not random but rather the result of specific selection processes during B-cell development in the immune response.



Learn more about the work of <a href="https://www.23andme.com/therapeutics/">23andMe Therapeutics here</a>.

Structure of Antibodies Plays a Role in Targeted Therapies

23andMe is working on a potential new cancer therapy, an antibody referred to as 23ME-00610 (23ME’610), currently in a Phase 1/2a clinical trial. Results from the Phase 1 portion of the trial <a href="https://investors.23andme.com/news-releases/news-release-details/23andme-announces-phase-1-results-first-human-phase-12a-study">were reported</a> recently at the annual American Association for Cancer Research (AACR) meeting in Orlando.



The class of drugs referred to as ‘Immune Checkpoint Inhibitors’ are designed to correct and reverse a tactic that some cancers deploy to allow them to grow and spread in the body.&nbsp; Some tumors are able to survive because they hijack what is referred to as an immune checkpoint, to prevent the immune system from recognizing and attacking cancer cells. Immune Checkpoint Inhibitors restore the function of key immune checkpoints, helping people with cancer to turn their immune cells back on, so the immune cells can recognize and kill the tumor cells.&nbsp;



23ME’610 is designed to do something similar, by binding to a receptor called CD200R1, which was identified as a promising anti-cancer target by 23andMe scientists studying the 23andMe database. CD200R1 is a cell surface receptor protein that is mostly expressed on human immune cells, specifically cancer-fighting T cells and myeloid cells. Tumor cells can express CD200, the only known binding partner for CD200R1, and use this regulatory protein to turn off the activity of T cells. A drug that blocks the ability of CD200 to bind to CD200R1 may activate T cells and enhance their ability to kill cancer cells.



The Phase 1 portion of the clinical trial evaluated the safety and tolerability of 23ME’610 in patients with advanced or metastatic solid tumors across a range of different doses. This Phase 1 portion also looked at whether 23ME-00610 bound to the intended target, CD200R1, on immune cells in the blood.



&#8220;We are pleased with the Phase 1 data,&#8221; said Jennifer Low, MD, Ph.D., Head of Therapeutics Development at 23andMe. &#8220;The Phase 2a portion of the study is now underway, and we look forward to further evaluation.&#8221;



In the Phase 1 portion of the study, 23ME’610 demonstrated an acceptable safety profile as well as other criteria including how it is metabolized and eliminated by the body. No dose limiting toxicities or <a href="https://toolkit.ncats.nih.gov/glossary/serious-adverse-event/">serious side effects </a>related to 23ME’610 were observed. The most commonly observed side effects were headache, fatigue, nausea and itching. More immune-related side effects, including hypothyroidism, rashes, fatigue, and chills were observed at higher doses of 23ME’610. The overall findings from Phase 1 support the progression of 23ME’610 to the next phase of clinical development.



In the Phase 2a portion of the trial, researchers are evaluating whether 23ME’610 can reduce tumor size and stop disease progression in patients with different cancer types, using a dose of 1400 mg, given intravenously every three weeks.&nbsp;



You can find additional details about our key results from the study presented at the AACR meeting <a href="https://investors.23andme.com/static-files/11a8206f-1f24-47c7-a64a-fe6b3b443b3a">here</a>.&nbsp;



Learn more about 23andMe&#8217;s Therapeutics along with the work on <a href="https://www.23andme.com/therapeutics/pipeline/23me-00610/" target="_blank" rel="noreferrer noopener">23ME&#8217;610 here.</a>

An Update on Clinical Trial for 23ME-00610

Aarathi Sugathan, Ph.D., found her calling in an undergraduate bioinformatics course at the University of Toronto. “I was intrigued,” she recalls. “Here was a way to answer biological questions using the computer in addition to laboratory research.”

This intrigue propelled her through college and a subsequent Ph.D. program and eventually led her to the 23andMe Therapeutics team.
As a Senior Scientist of Computational Biology at 23andMe, Aarathi uses genetic insights to identify and create actionable therapeutic targets for patients. The role feels tailor-made. 
“I get to work on problems that are both interesting to me and really matter to the world,” she says. “In hindsight, it makes perfect sense.”
<h6>How did your academic background lead you to 23andMe?</h6>
My Ph.D. work was on quite basic biology, trying to understand the mechanisms of gene regulation in mouse liver. My postdoc was primarily in a genetics lab.
Then I moved into industry; my first job was at a biotechnology company that aimed to discover new immunotherapy drugs for cancers.

	<figure class="wp-block-image size-full is-style-default"><img loading="lazy" decoding="async" width="1016" height="1526" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580.jpg" alt="" class="wp-image-29785" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580.jpg 1016w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580-768x1154.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580-682x1024.jpg 682w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580-586x880.jpg 586w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/05/Aarathi-Sugathan©PITER2019-23andMe3580-786x1180.jpg 786w" sizes="auto, (max-width: 1016px) 100vw, 1016px" /></figure>
	
 I feel that 23andMe is a combination of all the above – genetics and drug discovery, and of course, there’s a need to understand underlying biology to put those two things together.
 And I’ve always told people that working here feels like a mix between my postdoc lab (the genetics focus and an academic-like environment in some ways), my previous job (drug discovery and working closely with wet lab scientists), and a tech company (for obvious reasons). It’s a very unique and exciting place to be.
<h6>Can you give an overview of your role?</h6>
 As a member of the Computational Biology team, my job is to help move from a promising genetic association to an actionable therapeutic target that we can use to develop therapies that will ultimately help patients. 
I work closely with people on different teams across the company and use data from our customer-consented genetics research database and other types of data from public sources, as well as data that wet lab scientists in our Therapeutics group generate. 
Using that data, I help prioritize new possible targets. I assess their genetic and biological rationale. I also help answer questions like when and where genes are expressed and what happens in disease conditions compared to normal tissue to help us narrow down the correct targets and understand their mechanisms of action. 
<h6>Earlier this year, 23andMe began clinical trials of its first immuno-oncology (I/O) antibody developed in-house. The Computational Biology team played a key role in each phase of this process. What was that experience like?</h6>
I haven’t worked directly on the CD200R1 program, but I frequently interact with my colleagues who do; it’s certainly very exciting to see how work by our team directly helped identify the target and has continued to support the program all the way through to the clinic.
One of the things I am working on now is thinking about ways to use an approach similar to what we use in immuno-oncology, to try and put together genetic data across different phenotypes to aid in target discovery for other diseases. 
<h6>Does working with such a large genetic data set ever present challenges?</h6>
Definitely. Honestly, I’ve handled them by working together with very talented people across multiple teams who have figured out and continue to figure out better ways to meet these challenges. 
<h6>What projects are you working on that you’re most excited about?</h6>
 Probably the one I am most excited about is the work I’m doing to prioritize the genetic hits that are the most promising for drug target discovery. 
This has involved figuring out the best metrics and benchmarks for a “good” target and using these to evaluate hypotheses. I’m also working on how best to integrate other types of non-genetic data in the public domain that are relevant to specific disease areas, which would help understand and make use of the underlying biological mechanisms that lead to a disease phenotype.
 Another exciting project I’m working on is the Black Representation in Genomic Research project. Through consented research participation, we were able to gather gene expression and genetic data from individuals with African ancestry. Their contribution to this project has helped us better map genetic signals to the underlying causal genes in a way that better represents the variation between humans with different ancestral compositions.
My work for this project has been focused on investigating differences in gene expression between different populations to determine how much our ability to map genetic signals to causal genes is limited by using only datasets that are predominantly from individuals of European descent.

Gene Screen: Computational Biologist Aarathi Sugathan Uses Genetic Insights to Fuel Drug Discoveries

If you’re a recent Ph.D. graduate interested in opportunities to work with genetic data in the search for new insights into human disease and new treatments for those conditions, then 23andMe wants you.
23andMe has many new positions as part of our <a href="https://research.23andme.com/postdocs/">Postdoc Program</a>. Positions will include work in labs, data science, computational biology, or translational biology.  These positions offer the right candidates unrivaled opportunities to collaborate, investigate and discover together with our seasoned scientists known for world-class innovation.
“23andMe has a very large database of re-contactable customers who have consented to participate in our research driven by genetic data,” said Davide Foletti, a Research Fellow in Drug Discovery on the 23andMe Therapeutics Team.  “The unparalleled size of our unique database gives us enormous discovery power to study all manner of diseases. It shapes our approach to target discovery and guides our process to drug development generating insights at an unprecedented scale. The postdoc positions at 23andMe offer a unique opportunity for the right candidate.” 
The positions include generous compensation, with competitive salaries as well as top-notch benefits, and a wonderful working environment. The positions will be for two, or three years, and in the case of the biology postdoc positions within the Therapeutics Team, there will be an optional fourth year. Some positions may be remote. Two postdoc positions within the Research Team will be sponsored by the Michael J. Fox Foundation.
We are interested in recent Ph.D. graduates who are ready to pursue research focused on a number of areas, from Long COVID and Parkinson’s disease, to developing and improving upon polygenic risk scores, and studying the genetics of complex diseases within diverse populations.. Within our Therapeutics Team, there will be positions focused on genetics, biology and translational science, novel technologies, and computational and functional genomics approaches to target and drug discovery. 
Each Postdoc will be supported in expanding their research experience and skills while being highly encouraged to present their work externally at scientific meetings and publish in top-ranked peer-reviewed journals. The program offers the opportunity to work with the largest genetic and phenotypic database of its kind in the world,opportunities to develop project management skills and to work cross-functionally with multiple groups and functions within the company.
23andMe’s mission is to help people access, understand, and benefit from the human genome. Our Postdoc program will focus on therapeutics and the opportunity to ensure that more people benefit from the human genome. Qualified postdocs leading innovative projects push our mission forward, translating great research into great discovery.
Stay tuned for information and links to more details in the coming weeks for this great opportunity for the right candidate.  
<h6>Key Facts</h6>
<ul>
<li style="font-weight: 400;" aria-level="1">23andMe’s postdoc positions are for two, or three years with the option of a fourth year for the biology postdoc position on the Therapeutics team. While we cannot commit to hiring any of our postdocs, we encourage them to apply for open positions with the company after completion of their training. </li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">The program is funded by 23andMe except for two positions created with the support of the Michael J. Fox Foundation.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">The program aims to prepare the postdoc for success in research in academia or industry.</li>
<li style="font-weight: 400;" aria-level="1">23andMe postdocs will be working on real-world challenges alongside our scientists.</li>
</ul>
<h6>Eligibility Criteria</h6>
To be eligible for a 23andMe research postdoc position, you must have completed a Ph.D. in a STEM field within the last two to four years.
<h6>Recruiting Timeline</h6>
Details for the openings will be posted by the end of May 2022, with the aim of hiring qualified candidates this summer.
<h6>Diversity, Equity, and Inclusion</h6>
Diversity, equity, and inclusion at 23andMe foster a workplace that embodies respect and transparency, helps us empower one another, and provides access to opportunity for everyone. Learn how you will experience diversity, equity, and inclusion <a href="https://www.23andme.com/diversity-equity-inclusion/">at 23andMe</a>.
<h6>Applying</h6>
Visit our <a href="https://research.23andme.com/postdocs/">Postdoc Program Website</a> to learn more and apply for positions through <a href="https://www.23andme.com/careers/jobs/">our careers page</a>.

Postdoc Opportunities at 23andMe

If there’s a sweet spot between discovery and medicine — between answering the big scientific questions of the day, and administering the small but personal care required of the best physicians — then John Matthews is there.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2022/02/HUmans_23andME_me-1-36-1-576x1024.jpg" alt="" width="400" height="711" class="alignright wp-image-29473" />
That has a lot to do with his unique background and experience.
 Born in Malawi to a dad who was an agricultural scientist with a Ph.D., and a mom who worked as a hospital nurse, John grew up curious about both science and medicine. (His parents met in Rhodesia while John’s father was flying in a helicopter over farms and spotted his future wife in a red dress having a picnic among the white of a cotton field.) One of John’s uncles was also a doctor, and John developed a natural affinity toward helping people, even performing first aid on the playground in grade school.
“I learned various solutions to deal with simple problems like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc.,” he said. “I was very curious about how the body worked, and why it didn’t.”
Now the senior clinical development fellow on 23andMe’s Therapeutics team, John is still wrestling with those questions. He is both a physician who trained in pulmonary medicine and a scientist with a Ph.D. from the National Heart and Lung Institute at Imperial College in the UK. He worked directly with patients in an intensive care unit at a hospital in London, and after leaving clinical practice he spent years working at companies developing medicines meant to treat people with the kind of serious illness he often attended to on the ward.
And he still draws on his early years as a doctor for inspiration. John points to a handful of patients who he said fundamentally changed him and continue to motivate him. One, in particular, was a dying man with HIV who struggled simply to swallow food. Although there were new anti-retroviral treatments, those treatments didn’t become widely available for patients for another ten years. And those lifesaving drugs weren’t available to help this patient. For John, who cared for this patient as he died, it cemented the need to develop medicines faster.
“It was hard to be in a situation where novel therapeutics were so desperately needed and this patient is a constant reminder of the urgency to find new medicines for severe unmet needs,” John said. 
That’s a central mission for <a href="https://www.23andme.com/therapeutics/">23andMe’s Therapeutics</a> efforts and part of what drew John to work here.
On a day-to-day basis, John focuses on refining 23andMe drug discovery. Some of that involves developing plans for good clinical practice for such things as safety and data management. But he also brings understanding from those early days on the ward caring for people who were sick or dying. He has been instrumental in 23andMe’s efforts studying rare diseases for instance and explaining the science to patient advocacy groups.
We sat down with John to talk about his career, why he came to 23andMe, and what drives him as a scientist and physician.
<h6>You were born in Malawi, can you tell us a little bit about that, and about where you grew up?</h6>
John: “My parents were living in Malawi — Dad started working as an entomologist at Imperial College, in 1967 and through a UK government grant was based in the newly independent country Malawi to study cotton pests. Mum was working for a hospital as a nurse and Dad was doing his Ph.D. 
We left when I was almost five. But I went back just before I qualified as a doctor, visiting Zimbabwe and Malawi, working on a project comparing asthma in urban and rural areas. 
I visited the Makoka research station and the house I grew up in. I trekked out to the countryside and with various guides and contacts found the man who had taken care of me as a child. I went back daily for a few days buying fertilizer and new wellington boots for him — feeling guilty the whole time. He can’t speak English but he had a photo of me in his kitchen. I feel bad that (our family) didn’t do enough for him. My effort now is to regularly fund Kiva loans for Malawians (<a href="http://www.kiva.org">www.kiva.org</a>) and support various efforts in Malawi  — but it always feels like a drop in the ocean.”  
<h6>You trained in medicine and practiced for a while. Why did you go into medicine?</h6>
John: “My mum was a nurse and my uncle Seamus was a pathologist in Dublin. Between my mum and my uncle “medicine” was referred to a lot. I grew up knowing that medicine was a responsibility to care for anyone in need. When I was at school (aged 7-to-10) kids used to come to me in the playground with injuries – and I learned various solutions to deal with simple problems – like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc. I was very curious about how the body worked and why it didn’t.”
<h6>You’ve said before that you’re interested in physiology, body metabolism, and aging. Why is that?</h6>
John: &#8220;I did an extra year at medical school to study physiology. I wanted to go deeper into science. Physiology seemed to be the best way to actually look into how the body worked and it seemed a lot more fun than learning more anatomy or biochemistry. The physiology faculty at my medical school were always the best lecturers. The experiments to make discoveries were also more accessible than imagining what was happening in a chemical reaction. I even took part in <a href="https://pubmed.ncbi.nlm.nih.gov/1400059/">human physiology experiments</a> as a subject. 
I was encouraged to study areas with little scientific consensus, such as the control mechanisms of the exercise ventilatory response. I worked in an intensive care unit in London called the Mead ward. It was set up by Professor Ron Bradley, the first full-time intensive care clinician in the UK. He also ran the ICU at St Thomas’ Hospital, London. When I was on the ward, Ron, who had retired, still came in every week to give us tutorials. He had developed a way to estimate cardiac output through his work deriving simple equations that he had developed with quantitative data from human experiments. 
Without going into too much detail, the takeaway for me was that a close physical examination of the patient can give quantitative data on the circulatory state of the patient. The challenge is the ability to capture clinical information and lump or split patients in ways that can help us get to a molecular understanding of disease. 23andMe has pioneered capturing self-report data from the patient, but we haven’t yet mastered capturing the reports of the doctors and nurses that look after them.” 
<h6>What are your hopes for the work you are doing?</h6>
John: “My hope is to see our work yield significant new medicines in the shortest time frame possible.
I’m also very interested in what 23andMe can do around rare diseases. I hope we can communicate the potential of 23andMe to make genetic findings for a large number of rare diseases for which there is very little known currently. 
We’ve recently finished <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">a paper</a> illustrating that potential. There are more than 7,000 rare diseases. Being able to find a genetic basis for some of these conditions could offer valuable insights into diagnosis and treatment. We have the potential to do that for many conditions if we are able to find enough individuals with these conditions to participate in our research.”  
&nbsp;

Patients Inspire Therapeutics Scientist

Kipper Fletez-Brant, a computational biologist with our Therapeutics division, thought he’d be a physicist one day.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/09/kipper_pic_2-196x300.jpg" alt="" class="alignright wp-image-29155 size-medium" width="196" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2-196x300.jpg 196w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2-768x1176.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2-669x1024.jpg 669w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2-575x880.jpg 575w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2-771x1180.jpg 771w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/09/kipper_pic_2.jpg 1288w" sizes="auto, (max-width: 196px) 100vw, 196px" />Growing up in Phoenix, Arizona, Kipper escaped the heat reading “hard-sci-fi novels” with mind-bending plots woven with currently understood science about things like dark matter, wormholes, and the bending of the space-time continuum.
“But I realized at some point I liked living things and physics wasn&#8217;t the best fit,” he said.
Physics is sometimes referred to as the philosopher’s science. So perhaps it was appropriate that instead of a hard science, Kipper tackled other kinds of hard questions and studied philosophy as an undergraduate at St. John’s College.
After four years of wrestling with the eternal questions of life, he wanted something different.
“I wasn&#8217;t keen on the fact that there aren&#8217;t answers in philosophy,” Kipper said.
And that in turn motivated him to “think about science again.”
After graduation, while doing clerical work for an ophthalmologist, a doctor who noticed his aptitude and interest suggested he consider bioinformatics.
“I learned that was a way to put math and biology together,” Kipper said. “There was just one catch. I hadn’t studied either.”
It’s what motivated him to go back to school and break into the field. What followed was a Masters in Biotechnology giving him crash courses in computer science and molecular biology. He went on to work in a genetics lab and then spent time at the <a href="https://www.niaid.nih.gov/about/vrc">National Institutes of Health’s Vaccine Research Center</a>, working on data related to vaccine trials. Work that he’s been thinking about on a daily basis since the pandemic.
“Our mission was to understand, on a molecular level, what changes vaccines caused, so that we could make better, more effective vaccines,” Kipper said. 
The mission was important but Kipper wanted to lead research himself, and so he returned to school, but this time for a Ph.D. in Human Genetics from the <a href="https://www.hopkinsmedicine.org/institute-genetic-medicine/">McKusick-Nathans Institute of Genetic Medicine</a> at Johns Hopkins University’s School of Medicine and a Masters in Statistics from the School of Public Health.
Now three years into his work at 23andMe, Kipper is a critical part of the team of scientists and computational biologists looking for potential drug targets. One of the projects that Kipper is working on is a research effort called the<a href="https://blog.23andme.com/23andme-research/black-representation-in-research/"> Black Representation in Genomic Research Study</a> (BRGR) in which scientists are studying the genetics of gene expression with the aim of improving diversity in biomedical research. Ultimately, the aggregated and de-identified RNA and whole-genome sequencing data from the project will be made available to qualified researchers through the NIH’s dbGap. The hope is that this will assist those developing more effective drugs that can treat conditions and diseases affecting members of the Black community who have been underrepresented in traditional research.
It’s just one of many examples of what excites Kipper about working at 23andMe. For a scientist still fascinated by the potential of genetics to lead to novel therapies, he said being part of <a href="https://therapeutics.23andme.com/">23andMe’s Therapeutics </a>division offers rare opportunities.
“The genetic and phenotypic data at 23andMe is unparalleled,” Kipper said. “There is simply no other resource that compares to the 23andMe database in terms of the scale of phenotypes surveyed or size of the cohort.”
As part of an occasional series about scientists working at 23andMe, we sat down with Kipper to talk more about computational biology, 23andMe, and what it’s like being a scientist in 23andMe’s Therapeutics division.
<h6>Where did you grow up?</h6>
I grew up in Phoenix, AZ. I remember when it hit 122F in the early 90s. It grounded airplanes, many people had heatstroke. We didn&#8217;t have AC at the time, so my mom sprayed us with the hose (this motivated my parents to get AC)
<h6>What did you study as an undergrad?</h6>
I studied philosophy at St. John&#8217;s College, a small liberal arts college in Annapolis, Maryland. (It is directly across the street from the United States Naval Academy).
<h6>Did you always want to be a scientist?</h6>
Intermittently. As a child, I thought I might want to do physics because I read a lot of &#8220;hard&#8221; sci-fi where they talked about the physics of things like space travel. But I realized at some point I liked living things and physics wasn&#8217;t the best fit. I did philosophy because at least I thought about difficult things a lot, but I wasn&#8217;t keen on the fact that there aren&#8217;t answers in philosophy, which motivated me to think about science again.
<h6>Was your interest inspired by a person or a book or an experience?</h6>
After undergrad, I was working as an administrative assistant in a North Baltimore suburb for an ophthalmology office, and one of the doctors told me I should look at bioinformatics. I learned that was a way to put math and biology together. The catch was I hadn’t studied either. But that motivated me to look around for ways to break into the field.
<h6>Why did you get two master’s degrees (in Statistics and Biotechnology) and was there something that changed to prompt you to get your Ph.D. in human genetics?</h6>
I somehow talked my way into my first masters, in Biotechnology at Johns Hopkins, despite having a degree in philosophy and no scientific training. I was essentially making up for lost time. I studied computer science and molecular biology during this degree, while also interning as a laboratory technician in a molecular genetics lab. It really set me up for success, and after graduating I took a job as a data analyst at the National Institutes of Health’s (NIH) Vaccine Research Center, mainly working on datasets that came from participants in vaccine trials. Our mission was to understand, on a molecular level, what changes vaccines caused so that we could make better, more effective vaccines.
<h6>Why did you leave the NIH?</h6>
While the NIH was a great job with really smart people, I knew I wanted to lead research projects, and I did not have the training for that. I also missed working in genetics and genomics, and so I enrolled in the Human Genetics program at the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. While there, I knew I needed serious training in statistics to match the biological training from my Ph.D. program, so I did my Ph.D. work with Kasper Hansen, a professor in the Department of Biostatistics in the School of Public Health, and also did a master&#8217;s degree in biostatistics. In addition, I was a fellow of the Maryland Genetics, Epidemiology and Medicine (MD-GEM) training program, where I also trained in genetic epidemiology. 
<h6>What are the kinds of questions or problems you like to study?</h6>
I really like difficult problems that don’t have clear answers and make you think in several disciplines at once. At the NIH, I developed a tool for doing quality control of vaccine data that uses statistical concepts typically used in geology. While a Ph.D. student, I worked on statistical methods to find genetic variants that impact what 3D structure DNA actually takes when it is in a cell.
<h6>What attracted you to working for 23andMe’s Therapeutics team?</h6>
At the NIH I was working very closely with clinical research, and I knew that after my Ph.D. I wanted to return to more translational work. 23andMe, where everything is based on genetics, was a natural choice for me. And to date, I have used every part of my training, from molecular genetics to epidemiology to statistics, to answer questions about how to take our genetic findings and identify drug targets using them. 
<h6>Could you explain a little bit about your job analyzing functional genomics data and how it plays a role in characterizing potential drug targets?</h6>
At 23andMe, everything we do starts with genetics.  We know which genetic variants are associated with which diseases. The problem is that knowing that some genetic variant is associated with a disease often tells you nothing about how the variant causes disease, nor what you might do about it. The Computational Biology group helps generate ideas about how diseases are caused by genetic variation, and which genes might be good drug targets, by using our genetic data in conjunction with other biological data, such as the gene expression profiling we did in the BRGR study. Specifically, we often ask questions about whether particular variants affect the expression or function of possible target genes — maybe a particular gene is over-expressed in some diseases with an unmet medical need, for example.
<h6>What is unique about working at 23andMe either in terms of the kind of data you’re working with or the culture?</h6>
The genetic and phenotypic data at 23andMe is unparalleled. There is simply no other resource that compares to the 23andMe database in terms of the scale of phenotypes surveyed or the size of the cohort. Many GWAS that we run yield signals seen in no other cohort. In this context, drug development is very exciting, in that how to use genetic information to hone in on a drug target is a topic of active research in the community. 23andMe Therapeutics is breaking ground on hard questions and is one of the leaders in this space.
<h6>How is what you’re doing now different from what you were doing at St. Johns, or different from other jobs you’ve had?</h6>
My role at 23andMe is closer to the drug/therapeutic development process than any other job I’ve had, which was a huge draw for me, to be honest. At Johns Hopkins, I worked on questions that were focused on understanding basic biology, and at the NIH I was downstream of the development process. Here I am actively helping the Therapeutics team find new targets.
<h6>What are your hopes for the work you are doing?</h6>
I am optimistic that we will find “the best” way to use genetics to inform drug discovery. Our comprehensive dataset allows us to target a wide variety of diseases, and I am hopeful we can make an impact on many of them and the lives of people living with those diseases.

Tackling Tough Problems with the 23andMe Therapeutics Team

This month marks the two-year anniversary of 23andMe’s collaboration with GlaxoSmithKline (GSK). In <img loading="lazy" decoding="async" class="wp-image-28361 size-medium alignright" src="http://35.88.189.111/wp-content/uploads/2020/07/Therapeutic-300x119.jpg" alt="" width="300" height="119" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/07/Therapeutic-300x119.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/07/Therapeutic.jpg 564w" sizes="auto, (max-width: 300px) 100vw, 300px" />July 2018 the two <a href="https://blog.23andme.com/news/collaboration-with-gsk/">joined forces</a> to focus on increasing the probability of success in drug development by prioritizing candidates validated by human genetics.
<a href="https://www.biorxiv.org/content/10.1101/513945v1">Studies</a> show that treatments that have been validated with genetic data are at least twice as likely to succeed when compared to traditional approaches.
Ultimately, the goal of the collaboration is to drive the discovery of novel, genetically validated drug targets to bring new transformational medicines to patients. There are now close to 30 therapeutic targets that have been identified in oncology, immunology, neurology, cardiovascular and metabolic disease. The majority of these preclinical programs are in the target validation phase, and the remainder are in early drug discovery programs.
“Since our inception, 23andMe has strived to help people access, understand, and benefit from the human genome,” said Anne Wojcicki, 23andMe co-founder, and CEO. “We launched our research program more than a decade ago with the idea that we could make a significant impact on drug discovery with a crowdsourced genetic community. The collaboration with GSK accelerates us making that a reality.”
In a significant milestone for the collaboration, GSK and 23andMe have advanced the first joint asset into the clinic, a potential first-in-class cancer treatment that was discovered by GSK and being co-developed by the two companies. GSK and 23andMe were working on similar programs independently prior to the collaboration; GSK’s was chosen to advance to the clinic. The axis was genetically validated by 23andMe using a proprietary algorithm that compares potential drug targets to a unique data set from the 23andMe research platform. This data set comprises detailed genetic information integrated with thousands of phenotypes (non-genetic information) to help uncover genetic patterns, enabling scientists from 23andMe and from GSK to identify potential therapeutic candidates.
The benefit of this exclusive collaboration goes well beyond the programs. The collaboration is bringing together great science, new technology, and outstanding people to steer research where the data shows we can have the most impact. 23andMe brings large-scale genetic resources, antibody and protein engineering, and substantial biology experience and with its 300-year history, GSK provides tremendous expertise and resources to turn new ideas into new medicines and vaccines.
Data studied as part of the collaboration — and for all 23andMe research — is contributed by customers who explicitly opt-in to a separate research consent. 23andMe scientists study the data in-house and share summary statistics, stripped of any personal information. Collaborating with GSK allows 23andMe to much more quickly deliver on what many customers have been asking for — better treatments for diseases where current therapies are inadequate today.
“We give our customers the opportunity to participate in <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">novel research programs</a> across a wide variety of areas,” said Anne. “When we talk with customers who are suffering from a disease, they are hoping our research community can impact their lives, or future lives, by understanding the genetic cause of a disease and possibly finding a treatment.”

23andMe and GSK Clinical Trial

<div id="attachment_27155" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27155" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/Kenneth-Hillan-1-300x300.jpg" alt="" class="wp-image-27155 size-medium" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-768x768.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-1024x1024.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-880x880.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-1180x1180.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-372x372.jpg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-574x574.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/Kenneth-Hillan-1-980x980.jpg 980w" sizes="auto, (max-width: 300px) 100vw, 300px" />Kenneth Hillan, M.B., Ch.B. 23andMe’s Head of Therapeutics</div>
We recently sat down with Kenneth Hillan, M.B., Ch.B. 23andMe’s Head of Therapeutics, to learn more about his journey, career, and vision for Therapeutics. Prior to coming to 23andMe Kenneth was CEO of Achaogen, Inc where he also served on the board of directors. Before that he spent 17 years at Genentech rising to the position of Senior Vice President and Head of Clinical Development and Product Development Strategy in Asia-Pacific for Roche in Shanghai, China. Originally from Scotland, Kenneth studied medicine and became a surgeon and pathologist before coming to the United States.
&nbsp;
<h6>Tell us about your childhood.</h6>
I grew up in a pretty traditional family, for the west of Scotland, in a town called Renfrew, near Glasgow. I went to school at Glasgow University, where I studied Medicine. Student life in Scotland was a wee-bit different from what normally happens in the States. It was a great place to learn and make lasting friendships. I’ve always enjoyed the outdoors, and as a keen hiker, I probably spent more time walking the hills of Scotland than I did studying.

<div id="attachment_27156" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27156" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/IMG-2544-225x300.jpg" alt="" class="size-medium wp-image-27156" width="225" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/IMG-2544-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/IMG-2544-768x1024.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/IMG-2544-660x880.jpg 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/IMG-2544-885x1180.jpg 885w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/IMG-2544-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" />Glasgow University, Scotland</div>
<h6>What did you want to be when you were a kid??</h6>
I always wanted to be a doctor, and it’s ultimately what I became, although that’s not exactly what I do now.
&nbsp;
<h6>What eventually brought you to the US?</h6>
While you should listen to what people tell you, you shouldn’t always do what they say.
&nbsp;
Earlier in my career, when I was thinking about coming to the States, my then boss, Roddy MacSween, said to me, “You definitely should not go to the States — you’ll be lost to British pathology.”
&nbsp;
However, getting on a British Airways flight bound for SFO on July 31, 1994 turned out to be one of the best decisions I ever made, as it opened my mind to all of the incredible possibilities created through the emerging science of biotechnology.
&nbsp;
I planned to spend just two years in a lab at Genentech, working on a newly discovered gene,<a href="https://www.ncbi.nlm.nih.gov/gene/3082"> hepatocyte growth factor</a>, that caused the liver to grow. It’s a remarkable protein, when you give it to animals, their liver doubles in size in just three days!
&nbsp;
So, I thought I was going to Genentech to figure out how to cure patients with liver failure using hepatocyte growth factor and eventually to return to the UK; neither of those two things came to pass.
After my first two years was over, Genentech made me an offer to join research as a scientist. So, I decided to stay, which meant giving up a career in medicine and not going back to the UK.
&nbsp;
<h6>What was the best career advice you received?</h6>
When I was training as a doctor in Glasgow, I wanted to be a surgeon but wasn’t really sure what kind of surgery I should pursue.
&nbsp;
So, I asked my mentor, Harry Burns, what he would do if he were in my shoes. He said, “When I was at your stage, I would have explored going someplace else to learn new surgical techniques and to travel, as you have forty years of operating ahead of you.”
&nbsp;
Harry helped me find a place, through his network, as a surgical research fellow at the Hôpital Saint Antoine in Paris, France, which was the biggest GI surgical center in Europe.
&nbsp;
I spent a year in Paris doing half clinical and half research. I had the chance to learn French and to meet many interesting surgeons and researchers from all over the world and also started to develop an interest in liver disease, liver regeneration, and liver cell transplantation. It eventually became the bridge that took me to Genentech ten years later.
&nbsp;
My advice to people is to surround yourself with people who encourage and support you to do things that are a little unconventional in areas in which you have conviction.
<h6>What surprised you about 23andMe since joining?</h6>
The most surprising thing is the amount of data we have at 23andMe and our incredible data scientists who can transform that data into actionable information.
&nbsp;
I love the fact that I can sit at my desk and ask a question in my mind, then with a click of a button, I can find out what genes might be associated with a condition or disease.
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When I had lunch with Richard (Scheller, 23andMe’s Chief Scientific Officer) last November, he lured me in with data, specifically around the question, ‘are you a morning person or a night owl?’ I didn’t know the answer to what made someone a morning or night person, but Richard explained to me it had to do with the PER gene that controls circadian rhythm.
The fact you can ask our customers that question, and because of the size of the 23andMe customer database, you can find the gene that controls circadian rhythm – that blew me away! It took scientists 40 years to discover the gene that controls our body clock, and they won the Nobel prize for their work. And now at 23andMe we can find it with a click of a mouse!
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<h6>What are you most excited about this year?</h6>
I joined because I’m excited about what 23andMe is doing. The ability to marry the consumer and research sides of the business, together with therapeutics, exists no place else on planet Earth. Leveraging our database and our knowledge of human genetics to select the best possible drug targets for a given disease is incredibly powerful.
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We know that using genetics as a starting point in drug discovery approximately doubles the probability of creating a successful medicine, and selecting patients based on their personal genetics improves clinical outcomes. This is all part of our secret sauce and has never before been done on the scale that we are working on at 23andMe.
We have a really strong and committed Therapeutics team and are continuing to add new people and capabilities as we advance our pipeline. 
<div id="attachment_27163" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27163" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/IMG-0216-300x183.jpg" alt="" class="wp-image-27163 size-medium" width="300" height="183" />23andMe&#8217;s Therapeutics team</div>
The database continues to grow and scale, and with the GSK collaboration we continue to make new discoveries.
It’s our ability to advance a portfolio of programs at 23andMe that is so important, as even with the best science and scientists, some programs will still falter, for reasons like toxicity or an inability to create a molecule with all of the drug-like properties needed to treat patients.
23andMe has the potential to turn the future of healthcare on its head.
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<h6>What is your vision for Therapeutics in the next five years?</h6>
The mission at 23andMe is all about helping people access, understand and benefit from the human genome. Therapeutics is one of the key ways we can help our customers to reach the full “benefit” from the human genome by successfully bringing targeted therapies based on human genetic data to them.
With products and patients selected based on a deep understanding of the genetic drivers of disease, we have a goal of delivering better patient outcomes and real value to the healthcare system. We are still on our way to realizing that vision and I feel extraordinarily privileged to be a part of what I know is going to be the incredible journey of getting from here to there.
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<h6>Final thoughts about Therapeutics</h6>
Unlike our consumer business where we improve and refine our product every year and can react and respond to marketing data on a real time basis, in Therapeutics, it&#8217;s very different, it is a longer journey.
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While the return on all of the work is potentially enormous, it occurs over five, six, or seven years. We need to understand that it takes time and while I wish we could move more quickly, we’re making real progress, and I’m confident it will be worthwhile.

Meet 23andMe’s Head of Therapeutics Kenneth Hillan

Since the inception of 23andMe, our mission has been to help people access, understand and benefit from the human genome. 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-252x300.jpeg" alt="" class="alignright wp-image-26375" width="280" height="334" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-252x300.jpeg 252w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-859x1024.jpeg 859w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-990x1180.jpeg 990w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-768x915.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/07/Anne-headshot_2018-e1532470981667-739x880.jpeg 739w" sizes="auto, (max-width: 280px) 100vw, 280px" />
We have also built a significant research team that has published over 100 scientific papers. In 2015, we launched 23andMe Therapeutics to develop novel treatments and cures based on <a href="https://www.23andme.com/dna-health-ancestry/">genetic insights</a> from the consented 23andMe community.
<h6>Novel Treatments</h6>
Today, I am thrilled to <a href="https://mediacenter.23andme.com/press-releases/gsk-and-23andme-sign-agreement-to-leverage-genetic-insights-for-the-development-of-novel-medicines/">announce</a> that we are launching a collaboration with GlaxoSmithKline (GSK) to accelerate our ability to make those novel treatments and cures a reality. <code style="display: none;"> </code>
I hear regularly from customers that they want to be part of a solution that is improving health care. We all have some disease or health issue that we care about. 23andMe has created a research platform to enable customers to actively participate in research — to not wait for solutions to appear, but for people to come together and make discoveries happen.  By working with GSK, we believe we will accelerate the development of breakthroughs. Our genetic research — powered by millions of customers who have agreed to contribute — combined with GSK’s expertise in drug discovery and development, gives us the best chance for success.
<h6>Choice</h6>
Our top priority is our customer, and empowering each individual with the options to participate in research. As always, customers choose whether or not to participate in research. Customers can choose to opt-in or opt-out at any time. 
I started 23andMe with the belief that by getting people interested in learning about themselves and participating in research, we would all benefit. Today is an important milestone in how 23andMe will be able to impact the lives of those with disease and how we will be able to improve the future of healthcare.
Finally, I want to recognize GSK for their commitment to empowering consumers to play a role in creating impactful new treatments and helping redefine how we discover novel medicines in the future.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg" alt="" class="aligncenter wp-image-23161 size-full" width="318" height="133" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/sig_small_transparent.jpg 318w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/10/sig_small_transparent-300x125.jpg 300w" sizes="auto, (max-width: 318px) 100vw, 318px" />

drug development