<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:



<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
WEDNESDAY, OCTOBER 15TH 2:30 &#8211; 4:30 PM (Posters; Board #2004W) Sustaining Research Ethics in Times of Change: A Framework from the 23andMe Research Program



presented by Emily DelloRusso, Principal Regulatory Science Manager
</div>



<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:33.33%">
<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="683" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-683x1024.png" alt="" class="wp-image-34327" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-683x1024.png 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-200x300.png 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-768x1152.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-587x880.png 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-787x1180.png 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image.png 1067w" sizes="auto, (max-width: 683px) 100vw, 683px" /></figure>
</div>
</div>



<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
THURSDAY, OCTOBER 16TH 2:30 &#8211; 4:30 PM (Posters; Board #2035T) Explore23: a privacy-forward, secure, extensible, and easy-to-use web application for exploration of a large genomic research cohort



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



<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:33.33%">
<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="819" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-1-819x1024.png" alt="" class="wp-image-34328" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-819x1024.png 819w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-240x300.png 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-768x960.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-704x880.png 704w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1-944x1180.png 944w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-1.png 1280w" sizes="auto, (max-width: 819px) 100vw, 819px" /></figure>
</div>
</div>



<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
FRIDAY, OCTOBER 17TH 2:30 &#8211; 4:30 PM (Posters; Board #3014F) Learning about a genetic predisposition to depression is psychologically well tolerated among those with high polygenic risk scores



presented by Rebecca Berns, Sr. Product Scientist I, Genomic Health and Sciences
</div>



<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:33.33%">
<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="682" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/10/image-2-682x1024.png" alt="" class="wp-image-34329" style="width:150px" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-682x1024.png 682w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-200x300.png 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-768x1153.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-586x880.png 586w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2-786x1180.png 786w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/10/image-2.png 1066w" sizes="auto, (max-width: 682px) 100vw, 682px" /></figure>
</div>
</div>



Interested in reading more? 23andMe has contributed to <a href="https://research.23andme.com/publications/" target="_blank" rel="noreferrer noopener">more than 300 research publications</a>.

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

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



Watch the Highlights: 



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



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



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



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



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



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



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



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



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



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



 #HealthHuddleLIVE #GeneticHealth #CommunityWellness

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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

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

Can You Upload DNA Data to 23andMe? 

<h6 class="wp-block-heading" id="h-novel-insights-from-a-landmark-study-using-genomic-dataset-with-unprecedented-diversity">Novel insights from a landmark study using genomic dataset with unprecedented diversity</h6>



Did you know that your genetic makeup could hold important clues about your risk for depression? A groundbreaking new study, led by the University of Edinburgh and King’s College London, has analyzed the genomes of over five million people across 29 countries, including a pool of 23andMe research participants who consented to participate in studies like this.&nbsp;



Using this collaborative approach, the study uncovered nearly 300 previously unknown genetic links to depression. Crucially, it included participants from African, East Asian, Hispanic, and South Asian backgrounds, marking a significant departure from previous studies that overwhelmingly focused on individuals of European descent.



This diversity wasn’t just a milestone for representation; it was key to the study’s success. Among the newly discovered genetic variants, 100 were identified solely because of the inclusion of these underrepresented populations.&nbsp;



In total, researchers found nearly 700 genetic variations linked to depression, implicating 308 specific genes. Many of these genes are associated with neurons in brain regions that regulate emotion, offering fresh insights into depression’s biological underpinnings.



<h2 class="wp-block-heading">Depression: A Closer Look at Genetics</h2>



As winter drags on, the dark days and cold temperatures are a drain on everyone&#8217;s mood. For people predisposed to depression, though, it can mean more than that. While two people might go through the same long, dark winter, one person might feel pretty much normal, while the other might experience it as a trigger for the changes to mood, cognition, energy, sleep, appetite and more that define depression.&nbsp;



What makes some people prone to depression, and not others? <a href="https://www.23andme.com/topics/health-predispositions/depression/">Depression impacts 1 in 5 people in the U.S. in their lifetimes</a>, making it one of the most common mental illnesses. But scientists are still learning more about what contributes to an individual&#8217;s risk for depression.&nbsp;



It&#8217;s already known that the risk is increased by going through stressful life experiences like childhood adversity, discrimination, or serious health problems. And we’ve long known from family studies that depression can run in families, hinting at a genetic component.&nbsp;



Pinpointing the exact genetic factors at play has been challenging. Researchers use genome-wide association studies (GWAS) to uncover genetic variants — small differences in DNA — that might influence the likelihood of experiencing depression. However, these studies require enormous datasets to find statistically significant patterns.



<h2 class="wp-block-heading">Diversity Drives Breakthroughs in Depression Research</h2>



The results of this new study from the University of Edinburgh and Kings College London stand out for the diversity of the data set and have implications for reducing ethnic disparity in future advances in genomic medicine. The more we know about the genetics of depression in people of a given ancestry, the better our ability to predict which individuals are most likely to experience depression in that group.



The study’s findings also open up exciting avenues for treatment. Researchers identified genes targeted by existing antidepressant medications and flagged new ones that could lead to novel therapies. Intriguingly, the results highlighted two drugs — pregabalin, used for chronic pain, and modafinil, used for narcolepsy — as potential candidates for repurposing to treat depression. While more research is needed, these findings could pave the way for more effective treatments in the future.



<h2 class="wp-block-heading">23andMe’s role in advancing genomic research</h2>



23andMe&#8217;s diverse group of research participants has enabled us to conduct or contribute to <a href="https://www.23andme.com/publications/">more than 250</a> studies on a wide range of conditions, including collaborations like this study.&nbsp;



It&#8217;s also made it possible for us to offer cutting-edge genetic reports on predispositions to depression, anxiety, bipolar disorder, and more. These reports, based on methodology called polygenic scores or PRS, let individuals understand what genome-wide association study findings mean for themselves. Knowing that you have an increased likelihood of depression or another condition based on genetics can help individuals identify potential symptoms early and seek support when needed. And for many, understanding the genetic component of their condition can help reduce feelings of self-blame and stigma.&nbsp;



Our <a href="https://blog.23andme.com/articles/23andmes-new-depression-report">Depression PRS report, part of 23andMe Premium</a>, is available to people from six major ancestry groups, again thanks to our diverse research participants that enabled us to scientifically validate the model in all these ancestries.



<h2 class="wp-block-heading" id="h-how-to-be-a-part-of-depression-genomics-research">How to be a part of depression genomics research</h2>



This study — made possible by the contributions of 23andMe research participants — marks a significant step forward in understanding the genetics of depression, but there&#8217;s still more to do. If you&#8217;re a 23andMe customer and you&#8217;re interested in contributing to more research studies like this one, you can learn more <a href="https://www.23andme.com/research/">here</a> about how to get involved.



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



<ul class="wp-block-list">
<li>Depression affects millions, but this groundbreaking study uncovers nearly 700 genetic links to the condition, including discoveries made possible by the inclusion of diverse populations.</li>



<li>The findings offer insights into the biological underpinnings of depression and potential new treatment options.</li>



<li>23andMe’s Depression PRS report empowers individuals to understand their genetic likelihood and take more control of their mental health journey.</li>
</ul>



<h3 class="wp-block-heading" id="h-references">References</h3>



<a href="https://www.apa.org/topics/depression" target="_blank" rel="noreferrer noopener">American Psychological Association. &#8220;Depression.&#8221; Retrieved March 8, 2023, from https://www.apa.org/topics/depression.</a>  



<a href="https://www.cdc.gov/learnmorefeelbetter/programs/depression.htm" target="_blank" rel="noreferrer noopener">Centers for Disease Control and Prevention. &#8220;Managing Depression.&#8221; Retrieved March 17, 2023, from https://www.cdc.gov/learnmorefeelbetter/programs/depression.htm.</a>



<a href="https://www.nami.org/About-Mental-Illness/Mental-Health-Conditions/Depression" target="_blank" rel="noreferrer noopener">National Alliance on Mental Illness. &#8220;Depression.&#8221; Retrieved March 8, 2023, from https://www.nami.org/About-Mental-Illness/Mental-Health-Conditions/Depression.</a>



<a href="https://pubmed.ncbi.nlm.nih.gov/31006406" target="_blank" rel="noreferrer noopener">Øverland S et al. (2019). &#8220;Seasonality and symptoms of depression: A systematic review of the literature.&#8221; Epidemiol Psychiatr Sci. 29:e31.</a>  



<a href="https://pubmed.ncbi.nlm.nih.gov/24721040/" target="_blank" rel="noreferrer noopener">Sarris 2014. &#8220;Lifestyle medicine for depression.&#8221; BMC Psychiatry. 2014 Apr 10;14:107.</a> https://pubmed.ncbi.nlm.nih.gov/24721040/



<a href="https://pubmed.ncbi.nlm.nih.gov/29450462/" target="_blank" rel="noreferrer noopener">Hasin DS et al. (2018). &#8220;Epidemiology of Adult DSM-5 Major Depressive Disorder and Its Specifiers in the United States.&#8221; JAMA Psychiatry. 75(4):336-346.</a> https://pubmed.ncbi.nlm.nih.gov/29450462/

Landmark study breaks new ground in depression genetics research

Editor&#8217;s Note: We first published this post on the heels of our collaboration with the University of California San Diego researchers. It offers some stark reminders that loneliness has a cost not just on our mental health but our physical health as well. A new report by the Centers for Disease Control reminded us of the growing number of people alone in the United States. It also reminded us of how serious a problem loneliness is for our health, as detrimental to our health as smoking. In light of that report and others looking at the rise in mental health issues among adults, we wanted to resurface this post from 2020.



Humans are social animals. We thrive through contact with other people, and the importance of that connection can be seen by what happens in its absence.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="1254" height="836" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/iStock-1051207682.jpg" alt="Loneliness has an impact on health." class="wp-image-27918" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682.jpg 1254w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/iStock-1051207682-1180x787.jpg 1180w" sizes="auto, (max-width: 1254px) 100vw, 1254px" /></figure>



Several studies have shown the damaging impact loneliness has on human health. The adverse health effects of loneliness rival that of smoking and obesity, according to <a href="https://www.tandfonline.com/doi/full/10.1080/13607863.2019.1699022">recent studies done by scientists at UC San Diego</a>.







<h2 class="wp-block-heading" id="h-loneliness-a-growing-problem">Loneliness, A Growing Problem</h2>



Growing isolation and loneliness, particularly among the elderly, have prompted public health responses. Two years ago, the United Kingdom created the first national strategy to deal with the <a href="https://www.gov.uk/government/news/pm-launches-governments-first-loneliness-strategy">health consequences of isolation</a>. The National Academies of Sciences have begun to study the problem in the United States.&nbsp;



But beyond trying to combat social isolation, scientists are also researching for possible genetic predispositions toward loneliness. They also look at where those associations might overlap with risks for specific health outcomes.&nbsp;



<h2 class="wp-block-heading" id="h-genetics-also-plays-a-role">Genetics Also Plays a Role</h2>



Two recently completed studies offer compelling evidence of a genetic predisposition toward loneliness. Both studies, which included data from 23andMe and the UK Biobank, found shared genetic associations between loneliness and other conditions like cardiovascular disease, as well as psychiatric and metabolic disorders.



­­One study, led by researchers at the University of California at San Diego, found a clear association between loneliness and coronary artery disease, particularly among women. The study, published in <a href="https://academic.oup.com/hmg/article/28/22/3853/5568316">Human Molecular Genetics</a>, used data from more than half a million individuals. The researchers found 19 variants associated with a predisposition toward loneliness. Those variants were also associated with cardiovascular disease, as well as some psychiatric and metabolic disorders. Associations between major depressive disorder, loneliness, and heart disease have been described in <a href="https://www.sciencedirect.com/science/article/abs/pii/S104727971200292X">previous studies.&nbsp;</a> However, this study found that the associations are partly explained by genetics.



In another Vanderbilt University Medical Center study, researchers used electronic medical records and data from 23andMe, the UK Biobank, and others. That study looked at the connections between loneliness, major depressive disorder, and coronary artery disease. That study found that individuals with genetic risk for loneliness and major depressive disorder were more likely to have clinical diagnoses for coronary artery disease. This association was stronger in women than men, and the effect was specific to loneliness.



The studies come amid <a href="https://www.nia.nih.gov/news/social-isolation-loneliness-older-people-pose-health-risks">increased attention</a> to the genuine public health consequences of loneliness, particularly among older people. The researchers suggest that understanding conditions associated with loneliness could help develop ways to <a href="https://www.bostonglobe.com/metro/2020/01/20/researchers-health-officials-call-for-unified-approach-loneliness-and-social-isolation/0Jqne5IjuDL1f9fg84xJBL/story.html">address the issue</a>.



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



23andMe does not have a report on loneliness, but 23andMe+ members can learn about conditions associated with loneliness, such as their genetic predisposition toward <a href="https://you.23andme.com/reports/prs.depression/">Depression</a> and <a href="https://you.23andme.com/reports/prs.anxiety/">Anxiety</a>.



Current 23andMe Health + Ancestry Service customers on the current genotyping chip can receive this report and 35+ other reports by joining 23andMe+ from within their accounts.



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

The Genetics of Loneliness and its Impact on Health

An international team of researchers has found shared genetic underpinnings for alcoholism and several psychiatric disorders including depression, ADHD and schizophrenia.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Empty-Bottles-300x225.jpg" alt="" class="alignright size-medium wp-image-26708" width="300" height="225" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-1024x768.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles-1180x885.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Empty-Bottles.jpg 1182w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It is the largest genome-wide association study ever done on individuals with diagnosed alcohol dependency. The study led by researchers at Harvard Medical School, Yale, Indiana University, and Washington University, also bolsters <a href="https://blog.23andme.com/23andme-research/the-genetics-of-alcoholism/">other research</a> that has shown shared genetic influences between substance abuse and certain psychiatric disorders. 
“The current estimate is that one in eight Americans suffers from alcohol dependence,” said <a href="https://medicine.wustl.edu/news/alcohol-dependence-psychiatric-disorders-share-genetic-links/">senior author Arpana Agrawal</a>, PhD, a professor of psychiatry at Washington University School of Medicine in St. Louis. “And the gene we identified has a protective effect, but by no means is it the only thing affecting risk of alcohol dependence. We know environmental factors also play a role. We also think the genetic susceptibility to alcohol dependence stems from the small, cumulative effects of a very large number of variants across the genome.”
Along with the genome-wide association study — that included data from more than 50,000 people — this study, using data from <a href="https://research.23andme.com/research/">23andMe</a>, also looked at the genetic correlation between alcohol dependence and 42 different traits. Those traits were as varied as nicotine addiction, major depressive disorder, BMI, and educational attainment to name a few.
But this new study, published in the journal <a href="https://www.nature.com/articles/s41593-018-0275-1">Nature Neuroscience</a>, is unique in that the researchers included data from individuals who were diagnosed for alcohol dependency, and the study included individuals with non-European ancestry. The researchers noted that many genes influence alcohol dependence, but genes that affect how individuals metabolize alcohol play an outsized role. Researchers found that different genetic variants were more important for people with African American ancestry versus those of European descent.
Together the findings offer more insight into the causes of alcohol dependence, a major public health issue. Worldwide alcohol abuse accounts for about 5 percent of the global disease burden, and it is tied to one in 20 deaths, according to the World Health Organization.
This study also follows on the heels of a series of studies that have explicitly looked at alcohol use, including both casual consumption and much heavier alcohol use. Both studies found distinct genetic differences between occasional consumption and alcohol abuse. For example, researchers in both studies found that there was a negative correlation between the heavy drinking associated with alcoholism and educational attainment — the number of years of formal education. But there is a positive correlation between educational attainment and more casual or social drinking.
This study, and others, suggest that social drinking is not associated with depression, but problem drinking and alcoholism are. The study also found correlations with smoking, marijuana use, and measures for lower impulse control and higher tolerance for risk taking.
The work in linking these kinds of behavioral traits and psychiatric disorders has been made possible, in large part, because researchers have been able to leverage the massive amounts of de-identified aggregate data from 23andMe, the UK Biobank and several smaller research cohorts. This study also benefited from using data from individuals who were diagnosed with alcohol dependence, but an even larger study could yield more results, the researchers said.
&nbsp;

New Research Shows Shared Genetic Link Between Alcohol Dependence and Psychiatric Disorders

In honor of Mental Health Awareness Month, we’re taking a moment to highlight how anyone can be there for the people in their lives by starting a conversation about mental health. 

Whether it’s through advocating on someone’s behalf, or by simply listening, there are many ways to demonstrate your support. Now, 23andMe has added another way to help called Friends of Depression and Bipolar. As the first phase of 23andMe’s <a href="https://www.23andme.com/depression-bipolar/">depression and bipolar study</a> draws to a close, we have launched this next phase of the study that focuses on individuals who do not have a diagnosis of depression or bipolar and are interested in participating in the research. As part of this effort, we are recruiting 25,000 existing 23andMe customers who do not have a diagnosis of depression or bipolar. The research from this next part of the study will help scientists to understand if certain genetic markers and lifetime experiences are more common in people living with these illnesses. 

“As someone who works in the mental health space, I am regularly reminded of the importance of language.,” said Annie Blaine, the Marketing + Development Manager, Bring Change 2 Mind. “A kind word, an understanding tone, and a listening ear go further than any of us could ever imagine. These moments of empathy are invaluable for creating connection and for erasing stigma. And, as someone who has loved ones who are taking part in 23andMe’s depression and bipolar study, I know how critical this research is for providing hope. In the world of uncertainty that often surrounds mental illness, this study offers a chance for the answers and solutions that we are all seeking to lead full and productive lives.” 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-1024x683.jpg" alt="" class="aligncenter size-large wp-image-26202" width="1024" height="683" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/Mental-Health-Awareness-Month-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />


Participants in Friends of Depression and Bipolar will be asked to complete the same research activities as those participants living with depression or bipolar. Along the way, scientists will compare survey responses, cognitive assessments, and genetic data from both groups and try to identify what makes people living with depression and bipolar unique. In the first few weeks of enrollment, we have already recruited over 6,000 participants. 

Participating in research is just one of many ways to create more awareness and to support everyone living with a mental illness. Another way is talking about mental health with the people in your life. But, whether you are living with a mental illness or you want to reach out to someone about their mental health, we know that initiating these conversations is often daunting. That’s why we’re excited to share some resources developed by Bring Change to Mind (BC2M) that address this exact concern. 

BC2M is a national organization focused on ending the stigma surrounding mental illness through encouraging dialogue and raising awareness, understanding, and empathy. Additionally, BC2M acts as a portal to a broad coalition of organizations that provide mental health services, screening, information, support, and treatment. 
BC2M believes that every individual who speaks out inspires another. And another. Which is how we’ll end the stigma around mental illness. But, BC2M also recognizes that one of the biggest challenges in discussing mental health is getting started. So, BC2M developed a <a href="https://bringchange2mind.org/talk/talk-tool/">Talk Tool</a>, which was launched as part of their fifth PSA, <a href="https://bringchange2mind.org/learn/psas/talk-to-anyone">Talk to Anyone</a>, to offer helpful tips on how to start conversations that touch on various diagnoses and relationships. Not every conversation will be perfect, but each one fights the stigma around mental illness. And, that’s a conversation worth having. <a href="https://bringchange2mind.org/talk/talk-tool">Visit the BC2M Talk Tool today, and start your own mental health conversation!</a> <a href="https://bringchange2mind.org/talk/talk-tool"></a>

May is Mental Health Awareness Month

Just before we kick off another year of blogging, it’s worth taking a moment to look back and single out what for us were some of the big stories, breakthroughs or findings in genetics from last year. 
Here is our top five.<img loading="lazy" decoding="async" class="alignright wp-image-4565 size-full" src="http://35.88.189.111/wp-content/uploads/2009/09/iStock_000004751590XSmall.jpg" alt="" width="300" height="199" />
<h6>Diversity</h6>
For a very long time, medical research in general has focused largely on people of European ancestry and that is even<a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759"> more apparent with genetic research</a>. Less than five percent of genetic research on disease includes people of African ancestry. In fact most genetic research is focused on people of European ancestry, meaning that we risk missing key scientific discoveries that could benefit people of all ancestries. Last year 23andMe launched two separate efforts meant to help alleviate some of these disparities. Both are NIH-funded studies but they approach the diversity issue in different ways.
Kasia Bryc, a senior scientist and population geneticist at 23andMe, is leading one of the studies that will use<a href="https://blog.23andme.com/news/announcements/23andme-scientists-improving-diversity-in-genetic-research/"> admixture mapping</a> to identify genetic variants associated with disease in under-represented populations. This leverages 23andMe’s existing database, which includes a large number of African Americans and Latinos who have mixed ancestry. The second study is the African American African American Sequencing Project that is being lead by Adam Auton, a 23andMe senior scientist and statistical geneticist. This project will help address health research disparities by creating a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations.
Gene Editing, Again
This is the third year in a row we’ve singled out the innovative technique for specific bits of DNA, called CRISPR. It is a simple and quick way of snipping out deleterious sections of DNA and stitching in “corrected” sections. This offers huge potential for treating diseases or other deleterious conditions. It has already been used to treat<a href="https://www.nature.com/nature/journal/v539/n7629/full/nature20134.html"> sickle cell anemia</a> and<a href="https://www.nature.com/news/chinese-scientists-to-pioneer-first-human-crispr-trial-1.20302"> lung cancer</a>. But CRISP also presents some serious ethical issues about tampering with human DNA, and there are other issues.
For instance, researchers working on treating HIV found that the virus could quickly develop mutations that resist editing. The findings by researchers at McGill University in Montreal were<a href="https://www.nature.com/news/hiv-overcomes-crispr-gene-editing-attack-1.19712"> published back in April.</a> It illustrates the complexity of creating gene therapies with CRISPR. But even with this kind of hurdle, the promise of this technology makes it likely we’ll be hearing more about CRISPR this year.
<img loading="lazy" decoding="async" class="alignright wp-image-22305 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/03/teardrop-300x234.jpg" alt="" width="300" height="234" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-300x234.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-768x600.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-1024x800.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-880x687.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-1180x921.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h6>Not Depressing</h6>
Past efforts to study genetics of major depressive disorder all came up short until last year. It turns out that size matters when it comes to the study of depression. Past efforts were limited by numbers. However a “mega analysis” of data from more than 400,000 people  found 17 genetic variants in 15 different genetic regions associated with major depressive disorder.
<a href="https://www.washingtonpost.com/news/to-your-health/wp/2016/08/01/large-dna-study-using-23andme-data-finds-15-sites-linked-to-depression/?utm_term=.a6c976af27d5"> The study</a>, by scientists from Pfizer, Massachusetts General Hospital and 23andMe identified genes associated with depression and schizophrenia. The study also illustrates the<a href="http://jamanetwork.com/journals/jama/article-abstract/2595522"> power of big data</a>. While identifying genes associated with the condition is useful to better understand the disease and its causes. It also gives researchers studying the biology of the disease clearer paths to follow, but much work is still needed.
<h6>Love and Science </h6>
Our year started with the<a href="https://blog.23andme.com/23andme-research/love-and-science/"> moving story</a> of the married couple, Eric Minikel and Sonia Vallabh.  Together they switched careers to become medical researchers and focus all their energy on the study and treatment for prion disease. It is a rare but devastating and fatal genetic condition. It hits the nervous system, impairs brain function, and causes other neurodegenerative symptoms. It typically manifests itself around the age of 50.
Sonia’s mother died of the disease at 52. Sonia inherited the genetic mutation that puts her at a very high risk for the disease. The couple formed a<a href="http://www.prionalliance.org/"> non-profit</a> focused on the disease. They’ve incorporated data from 23andMe in<a href="http://stm.sciencemag.org/content/8/322/322ra9.full"> their work</a> and their story has been featured in both the<a href="http://www.theatlantic.com/health/archive/2015/02/insomnia-that-kills/384841/"> Atlantic</a> and the<a href="https://www.newyorker.com/books/page-turner/a-prion-love-story"> New Yorker</a>.
<h6>The Election</h6>
The ascendance of Trump to the U.S. presidency leaves open a lot of questions about the future of government funded research in the US. Not just that even the<a href="http://www.sciencemag.org/news/2016/12/waiting-science-adviser"> role of science</a> in setting policy is up in the air. Also unknown is whether the new administration will keep Francis Collins, as director of the NIH. At the helm of the agency since 2009, Collins has helped push the<a href="https://www.nih.gov/research-training/allofus-research-program"> Precision Medicine Initiative</a>, now called “All of Us.” He has deftly navigated the political waters of Washington, but<a href="https://www.statnews.com/2016/12/13/trump-collins-eisen/"> some</a> have publicly pushed for his replacement. Whether he stays or goes, it’s still unknown what if any science initiatives the new administration will champion.

Our Top Five from 2016

Editor&#8217;s note: 23andMe is now enrolling for a new genetic study on depression and biopolar disorder. Check out the <a href="https://blog.23andme.com/23andme-research/23andme-launches-new-genetic-study-depression-bipolar-disorder/">blog post</a> about the study or see more about the study <a href="https://www.23andme.com/depression-bipolar/">here</a>. 
In a new study, scientists have found genetic markers associated with depression in people of European descent.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22305" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/teardrop-300x234.jpg" alt="Pencil drawing eye" width="300" height="234" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-300x234.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-768x600.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-1024x800.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-880x687.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/teardrop-1180x921.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />


In what is by far the <a href="https://www.nature.com/articles/ng.3623.epdf?shared_access_token=2L701P0aoTugcpIZV_UxDtRgN0jAjWel9jnR3ZoTv0PP-e6MaKfwdoFYRj8g9D1xDb6bJ1uGA1UjyIKokNVDLTnRuKcWMhh79nIxx72yX9SVmCk7BF6wsPtOYEwU_jusesdKi0iT9c3E5z3SwC0sXWsNXiGGmHdldHOLvCJ7EvE%3D">largest study</a> of its kind focused on major depressive disorder, researchers from Pfizer, Massachusetts General Hospital and 23andMe identified 17 single nucleotide polymorphisms in 15 genetic loci significantly associated with depression among people of European ancestry.
The study may lead to better understanding of the biology of the condition. Major depressive disorder is characterized by mood changes, sleep disruption, fatigue and loss of appetite, and is one of the leading causes of disability and is estimated to affect more than<a href="https://www.nature.com/news/mental-health-a-world-of-depression-1.16318"> 350 million</a> people worldwide.
The study drew on massive amounts of data from 23andMe customers who’ve consented to research and completed online surveys about depression.


“These studies provide evidence for large-scale consumer genomic data as a powerful and efficient alternative  complement to data from traditional means of ascertainment for neuropsychiatric disease genomics,” according to the study. “If one reasonable strategy adopted by that study is to develop more precise or refined phenotypes, another is to efficiently identify much larger cohorts for study despite less intensive phenotyping.”


Although researchers have long known that genetics plays an important role in the development of depression, attempts in the past to study the genetics behind the disorder have failed to produce results. One<a href="https://www.ncbi.nlm.nih.gov/pubmed/22472876"> study</a> in 2013 by the Psychiatric Genomics Consortium (PGC) looked at data from more than 17,000 people with depression but couldn’t detect any genetic hits. For a time researchers thought the studies were being confounded by how major depressive disorders were being diagnosed – by basically lumping different forms of depression together – or that the studies were undersized.
Depression is a heterogeneous disease, with many genes contributing to the condition. Environmental influences also play a role in its development.
Jonathan Flint, a geneticist at the University of Oxford and a key researcher in the PGC study, concluded that he either needed more data from more individuals to find a signal or a more select group of individuals to study, according to an <a href="https://www.nature.com/news/first-robust-genetic-links-to-depression-emerge-1.17979">article</a> in the journal Nature. Flint took the latter strategy studying data from about 10,000 individuals in China, a cohort that was relatively homogenous and had the most severe depression. Last year he and other researchers published their findings, <a href="https://www.nature.com/nature/journal/v523/n7562/full/nature14659.html">uncovering two variants</a> associated with the condition among people of Han Chinese ancestry, but those variants do not appear to influence the condition in people of European descent.


Another approach would be to find a much larger cohort of individuals and that’s what this latest study has done by tapping into 23andMe’s data from customers. The study includes more than 450,000 customers, who consented to participate in research, about 120,000 of whom reported being diagnosed with depression.


By using 23andMe’s online method and collecting data from a very large group of individuals, the researchers were able to gather enough data to power their study. The sheer volume of data – the number of people, the amount of both phenotypic and genotypic data – allowed the scientists to see signals that they may not have seen otherwise.
The variant most strongly associated with depression was found in a gene region involved with brain function.
The most statistically significant variant is located between two genes that are expressed in the brain, MEF2C and TMEM161B. MEF2C is involved in the regulation of synapses and studies have associated variants in this gene with epilepsy and intellectual disability.


The remainder of the single nucleotide polymorphisms found to reach genome-wide significance for association with depression were in 13 other genes or gene regions. Many of these are expressed in the central nervous system for neurodevelopment or have been identified in other genome-wide association studies to be related to different psychiatric traits.
All of these variants are different than the two variants associated with depression in people of Han Chinese ancestry, but the variants found in both studies may help in the ongoing effort to understand the underlying biology of depression.
Researchers hope these new findings will offer a better understanding of the biology of the disease and could help in the search for the right treatments for depression.
This study can be found in the journal <a href="https://www.nature.com/ng/journal/v48/n9/full/ng.3623.html" target="_blank" rel="noopener noreferrer">Nature Genetics.</a>

New genetic variants linked to depression

Researchers have identified a genetic variant associated with severe menstrual cramps.<img loading="lazy" decoding="async" class="alignright wp-image-24518" src="https://blog-api.23andme.com/wp-content/uploads/2016/09/femalelog.jpg" alt="femalelog" width="200" height="289">
This is the first genome-wide association <a href="https://urldefense.proofpoint.com/v2/url?u=https-3A__www.ncbi.nlm.nih.gov_pubmed_27454463&amp;d=DQMFaQ&amp;c=UE1eNsedaKncO0Yl_u8bfw&amp;r=yIEbbFV-uqmMfsvimyJmaN3PWvyt_YZu77IupqdRYgQ&amp;m=qeGp7zXkxvv_tTvSZVQiMuN7567yj3qeMt22WM8sYWc&amp;s=o7oSWYiEBZD26QuppR_qZDJbKJ_ZJiSzToO2RBhJfxc&amp;e=">study</a> of this form of chronic pain. Known as dysmenorrhea, it is the most common gynecological condition among women over 18 and can be debilitating in certain cases.
According to a physician’s handbook description of dysmenorrhea, the pain can be severe enough to interfere with daily activities in up to <a href="http://www.aafp.org/afp/2012/0215/p386.html">20 percent of women</a> who suffer from the condition.
&#8220;To date the genetic basis of pain severity for dysmenorrhea remains largely unknown,” said Nick Furlotte, senior scientist at 23andMe. “Our findings could provide deeper insight into potential treatments for what is a chronic and debilitating condition for many women.&#8221;
The study, conducted by scientists at Pfizer Inc. and 23andMe, found a single variant in the gene encoding nerve growth factor (NGF) associated with the condition in women of European ancestry. The researchers looked at data from more than 11,800 female customers of 23andMe, who consented to participate in research and answered survey questions ranking the severity of their menstrual cramps.
NGF is located in a region of the genome that also regulates ovarian and fat tissues, and has been linked to other pain disorders, although the function of the NGF gene as it relates to dysmenorrhea is not entirely known. The pain from menstrual cramps is mostly a function of the increased production of lipids known as prostaglandins during menstruation.
Although nonsteroidal anti-inflammatory drugs (NSAIDs) – such as ibuprofen or aspirin – are often effective in treating the pain, in about 15 percent of women the drugs are either ineffective or trigger adverse side effects.*
*Campbell MA, McGrath PJ. Non-pharmacologic strategies used by adolescents for the management of menstrual discomfort. The Clinical journal of pain 1999;15(4):313-320.
You can find the study in the journal <a href="https://www.ncbi.nlm.nih.gov/pubmed/27454463">Pain</a>.

Genetics found to influence menstrual cramps severity

<img loading="lazy" decoding="async" class="aligncenter wp-image-19144 size-full" src="http://35.88.189.111/wp-content/uploads/2013/08/PMS1.jpg" alt="" width="566" height="848" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/08/PMS1.jpg 566w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/08/PMS1-200x300.jpg 200w" sizes="auto, (max-width: 566px) 100vw, 566px" />
By Alexandra Carmichael, Co-Founder of CureTogether 
Some of the most effective treatments for women with symptoms from Premenstrual Syndrome (PMS), are also some of the simplest. CureTogether – a free resource owned by 23andMe that allows people to share information about their health and treatments – surveyed more than 1,000 women who reported having PMS who reported that interventions such as heat, Ibuprofen, massage, extra sleep, and even eating dark chocolate helped.
<div id="attachment_19148" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-19148" class="size-medium wp-image-19148" src="https://blog-api.23andme.com/wp-content/uploads/2013/08/PMS-Graphic-300x193.jpg" alt="PMS Graphic" width="300" height="193" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/08/PMS-Graphic-300x193.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2013/08/PMS-Graphic.jpg 724w" sizes="auto, (max-width: 300px) 100vw, 300px" />For the live-updated, fully-labelled, interactive version of this infographic, <a href="http://curetogether.com/pms/ig/treatment-effectiveness-vs-popularity" target="_blank" rel="noopener">click here</a>.</div>
Symptoms for PMS can include both emotional and physical distress and range from mild to more severe and can sometimes interfere with day-to-day activities. Participants in the study said they found that over-the-counter pain relievers, heat from hot pads or a bath, and relaxing activities like massage and meditation were among the most effective treatments. The survey also found that exercise and some drugs like Cannabis and Fluoxetine helped some women. Conversely, some common treatments such as contraceptive pills, fish oil, and calcium were among the least effective, according to the study.
The American College of Obstetricians and Gynecologists estimates that at least 85 percent of menstruating women have at least 1 PMS symptom as part of their monthly cycle. It can be painful and embarrassing to talk about, and finding accurate recommendations on treatments that work well can be challenging, so CureTogether asked women who experience PMS to rate the effectiveness of 29 different patient-reported treatments.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
Most Effective Rated Treatments for PMS 
1. Balancing hormones 
2. Heat 
3. Ibuprofen 
4. Midol 
5. Massage 
6. Aleve 
7. Cannabis 
8. Reduce sugar 
9. Adequate sleep 
10. Dark chocolate
</div>
Where did this data come from? This is the result of a four-year CureTogether study on <a href="http://curetogether.com/pms/symptoms/">PMS</a>, in which 1,179 women shared information about their symptoms and what treatments worked best for them. We’d like to thank those who participated. And just as they shared their experience with treatments, we’re freely and openly sharing the results of the PMS study.
This is part of a regular series of CureTogether <a href="http://curetogether.com/blog/category/research-findings/">research findings</a>. CureTogether’s research findings are different than <a href="https://www.23andme.com/about/factoids/">those made by 23andMe</a>, which look at genetic associations with illness, traits and drug response. But as we continue our work with the CureTogether community, 23andMe hopes to incorporate more of this kind of self-reported information into our own research. CureTogether present its findings just as they are – patient-reported data – to stimulate discussion and generate new insights for further research.
Please tweet, blog, or pass this along to anyone who can benefit or is interested in PMS. Thank you!

menstruation

A Big Step Forward for Patient Safety

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

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

23andMe Research Institute Attending ASHG 2025

New Genetic Insights Into Cannabis Use

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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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

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

A Major Leap Forward in Understanding the Genetics of OCD

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

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

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

Can You Upload DNA Data to 23andMe?

Landmark study breaks new ground in depression genetics research

The Genetics of Loneliness and its Impact on Health

New Research Shows Shared Genetic Link Between Alcohol Dependence and Psychiatric Disorders

May is Mental Health Awareness Month

Our Top Five from 2016

New genetic variants linked to depression

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

23andMe Research Institute Attending ASHG 2025

New Genetic Insights Into Cannabis Use

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

Genetics found to influence menstrual cramps severity

What Women Say Works Best for PMS

Stay in the know.