
<h5 class="wp-block-heading" id="h-23andme-research-institute-attending-neurips-2025"><a href="https://neurips.cc/virtual/2025/loc/san-diego/poster/116171" target="_blank" rel="noreferrer noopener">23andMe Research Institute Attending NeurIPS 2025</a></h5>



<p>This week the 23andMe Research Institute will be presenting work at <a href="https://neurips.cc/" target="_blank" rel="noreferrer noopener">NeurIPS 2025</a> (The 39th Annual Conference on Neural Information Processing Systems). This conference gives researchers a chance to learn about and share advances in machine learning and AI that can be critical for creating the complex predictive models that can assess a person&#8217;s susceptibility to diseases based on their DNA.</p>



<p>Current and former 23andMe Research Institute scientists will be presenting their work:</p>



<p><a href="https://neurips.cc/virtual/2025/loc/san-diego/poster/116171" target="_blank" rel="noreferrer noopener">PRSformer: Disease Prediction from Million-Scale Individual Genotypes</a> on Wed December 3rd between 11 a.m. and&nbsp; 2 p.m. PST.&nbsp;</p>



<p>This paper describes the development of an advanced model that predicts 18 autoimmune and inflammatory conditions using nearly 140,000 genetic variants. The model was trained and validated on data from almost 5 million consented 23andMe research participants, and outperforms state-of-the-art methods when trained on the same data. These results highlight the power of 23andMe’s research platform and the scientists who transform that data into cutting-edge techniques and insights.</p>



<p>If you are attending NeurIPS 2025 stop by the session on December 3rd. Or if you want to dig into the details, you can read the <a href="https://www.biorxiv.org/content/10.1101/2025.10.26.684578v1" target="_blank" rel="noreferrer noopener">preprint here</a>.</p>



<p></p>


23andMe Research Institute: Disease Prediction from Million-Scale Individual Genotypes


<p>Would you rather have $10 today or $20 in a month? Your answer to this classic question gets at the heart of a trait known as delay discounting: our tendency to devalue larger future rewards in favor of smaller more immediate rewards. This trait isn&#8217;t just about money; it reflects a tendency that can influence decisions about our health, finances, and relationships.</p>



<p>For years, scientists have known that our genetics play a role in delay discounting, but they needed data from more people to gain meaningful insights. <a href="https://blog.23andme.com/articles/wait-new-genetic-research-impulsivity" target="_blank" rel="noreferrer noopener">Previously</a>, 23andMe scientists collaborated with researchers at the University of California, San Diego to conduct the first-ever genome-wide association study of delay discounting. Now, in a <a href="https://www.nature.com/articles/s41380-025-03356-8" target="_blank" rel="noreferrer noopener">recently published study</a>, the 23andMe Research Institute and UC San Diego teams, along with researchers at other institutions, have increased the number of research participants more than five-fold, creating an even clearer picture of the genetics of delay discounting.</p>



<h2 class="wp-block-heading" id="h-uncovering-new-genetic-clues">Uncovering New Genetic Clues</h2>



<p>The power of genetic research often lies in numbers. This study used data from over 134,000 consented 23andMe research participants. This huge increase allowed the researchers to identify 14 distinct genetic variants significantly associated with delay discounting, a big step up from the <a href="https://pubmed.ncbi.nlm.nih.gov/29230059/" target="_blank" rel="noreferrer noopener">previous handful of known genetic associations</a>.</p>



<p>Finding these genetic variants is a crucial first step. It gives researchers specific biological regions to investigate in order to understand the underlying neurobiology of why some people are more present-focused while others can more easily wait for a bigger payoff.</p>



<h2 class="wp-block-heading" id="h-a-web-of-connections-health-behavior-and-genetics">A Web of Connections: Health, Behavior, and Genetics</h2>



<p>This research also explored how the genetics of delay discounting overlap with 73 other complex traits, confirming some expected connections and revealing some surprising new links.</p>



<p>One of the most consistent findings was a strong genetic correlation with smoking behaviors. The genetic variants associated with steeper delay discounting (meaning a stronger preference for immediate rewards) were also linked to a higher likelihood of starting to smoke and greater difficulty quitting. This aligns with previous studies that showed that delay discounting is associated with the risk of relapse especially for nicotine addiction.</p>



<p>However, the story isn&#8217;t as simple as it might seem. The researchers found significant <em>negative</em> genetic correlations with several psychiatric and neurodevelopmental conditions, including obsessive-compulsive disorder, anxiety, schizophrenia, and autism spectrum disorder. This suggests that the genetic factors that predispose a person to wait for a later reward may overlap with genetic risks for these conditions.</p>



<p>Finally, the researchers analyzed data from a separate hospital-based cohort of nearly 73,000 individuals and found that a polygenic score for delay discounting was associated with 246 different medical conditions. While some of these links are likely due to behaviors associated with delay discounting (like smoking), others (like for cardiovascular or metabolic traits) may point to shared biological mechanisms. Together this suggests the genetics of delay discounting is intertwined with other conditions, and could have far-reaching impacts on our overall health.</p>



<h2 class="wp-block-heading" id="h-important-considerations-and-the-path-forward">Important Considerations and the Path Forward</h2>



<p>It&#8217;s crucial to remember that correlation does not equal causation. While this study found genetic overlaps, we can&#8217;t say that delay discounting <em>causes</em> these other traits or vice-versa. The relationship can be complex and even bidirectional. For instance, we know substance use can increase impulsive decision-making, but steeper delay discounting also predicts who is more likely to use substances in the first place.</p>



<p>Like all scientific research, this study also has its limitations. This analysis was conducted on research participants of European descent, and 23andMe research participants tend to be more educated, older, and have a higher socioeconomic status than the general population. Future studies in more diverse populations are essential to ensure the findings are applicable to everyone.</p>



<p>Despite these caveats, this work marks an important step forward and lays the foundation for future studies aimed at discovering better prevention strategies, diagnostic tools, and treatments for a whole host of conditions linked to the fundamental human trait of deciding between &#8216;now&#8217; and &#8216;later.&#8217;</p>



<p></p>


Can Genetics Help Us Understand Why We Choose ‘Now’ Over ‘Later’?


<p><em>In honor of Lung Cancer Awareness Month, we’re spotlighting </em><a href="https://www.lostwomenofscience.org/podcast-episodes/for-susan" target="_blank" rel="noreferrer noopener"><em>a new episode</em></a><em> of the</em> Lost Women of Science<em> podcast that shares the story of Susan Wojcicki — mother of five and former CEO of YouTube. When Susan was diagnosed with non-small cell lung cancer at age 54, she sprang into action — gaining knowledge of the disease and funding research, including the </em><a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener"><em>Lung Cancer Genetics Study</em></a><em>. This podcast features her sisters, Janet Wojcicki, professor of pediatrics and epidemiology at the University of California, San Francisco, and Anne Wojcicki, founder and CEO of the 23andMe Research Institute, who reflect on Susan’s experience and the questions it raised. Susan’s story and the experiences of other patients can teach us a lot about lung cancer.</em></p>



<h2 class="wp-block-heading" id="h-anyone-with-lungs-can-get-lung-cancer-breaking-the-smoking-myth-nbsp">Anyone With Lungs Can Get Lung Cancer: Breaking the Smoking Myth&nbsp;</h2>



<p>In a <a href="https://blog.youtube/inside-youtube/from-susan/" target="_blank" rel="noreferrer noopener">posthumous blog post</a>, Susan wrote about the shock of her diagnosis. At the time, she was otherwise healthy and active. Her childhood friend Joanna Strober explained, <strong>“Susan led the most healthy life. She didn’t eat sugar, she was very careful about exercising every day…. She was doing everything she possibly could to stay healthy.”</strong> Like many people without a history of exposure to tobacco smoke, Susan never considered that she might be at risk of lung cancer. Yet she became one of the <a href="https://jamanetwork.com/journals/jama/article-abstract/2840343" target="_blank" rel="noreferrer noopener">15–20%</a> of people diagnosed with lung cancer who have never smoked — two-thirds of whom are women.&nbsp;</p>



<p class="has-text-align-left">Susan’s surprise at her diagnosis is not unique. Public health campaigns have effectively raised awareness about the link between tobacco smoke and lung cancer risk. But they have also contributed to a myth: that tobacco exposure is the only meaningful risk factor. In reality, <a href="https://www.cancer.org/cancer/types/lung-cancer/causes-risks-prevention/what-causes.html" target="_blank" rel="noreferrer noopener">many factors</a> can impact lung cancer risk — including genetics, other health conditions, or exposure to substances like air pollution or radon gas. This misconception about tobacco smoke can be so strong that it affects even medical professionals with decades of experience. Dr. James Fanale, a retired geriatrician and former CEO and president of Care New England, one of the largest health systems in Rhode Island, shared:&nbsp;</p>



<div style="float: center; text-align: center; width: 760px; padding: 15px; margin-left: 10px;">
<p><strong><i>As an experienced physician, I was shocked when my three-month cough resulted in a diagnosis of stage 4 non-small cell lung cancer. Always healthy and in good physical condition, it came as quite a surprise. I should have recognized the signs but, even then, I had progressive disease.</i></strong></p></div>



<p>Stories like Susan’s and Dr. Fanale’s underscore a critical truth: anyone with lungs can get lung cancer, and its causes are more complex than many of us realize.</p>



<h2 class="wp-block-heading" id="h-symptoms-it-doesn-t-always-look-like-lung-cancer">Symptoms: It Doesn’t Always Look like Lung Cancer</h2>



<p>Another misconception? That lung cancer always causes obvious lung symptoms. While this is sometimes true, many people — including Susan — have no respiratory symptoms or even any symptoms at all. While lung cancer can cause symptoms at any stage, patients are more likely to experience symptoms when the disease is at an advanced or extensive stage, meaning the cancer has already spread to other organs. While Dr. Fanale was diagnosed after experiencing a cough that wouldn’t go away, Susan’s only symptom was pain in her hip, which she thought came from exercising too much. In reality, her cancer had spread to her bones. Even after Susan’s stage 4 diagnosis, her doctor <a href="https://www.youtube.com/watch?v=94cS9mRP3cw&amp;list=PLkdBca9W48D8QOExu4058j8QXrBS9ip1U&amp;index=2" target="_blank" rel="noreferrer noopener">didn&#8217;t hear anything abnormal</a> in her lungs.</p>



<table style="width:100%; border-collapse:collapse; border:2px solid black;">
<tr style="text-align:center;">
<td colspan="2" style="border:1px solid black;">
<a href="https://www.cancer.org/cancer/types/lung-cancer/detection-diagnosis-staging/signs-symptoms.html" target="_blank" rel="noreferrer noopener"><strong>The most common lung cancer symptoms according to the American Cancer Society</strong></a>
</td>
</tr>
<tr>
<td style="padding:15px;">
<ul>
<li>A cough that does not go away or gets worse</li>
<li>Coughing up blood or rust-colored sputum (spit or phlegm)</li>
<li>Chest pain that is often worse with deep breathing, coughing, or laughing</li>
<li>Infections such as bronchitis and pneumonia that don’t go away or keep coming back</li>
<li>Hoarseness</li>
</ul>
</td>
<td style="padding:15px;">
<ul>
<li>Loss of appetite</li>
<li>Unexplained Symptoms weight loss</li>
<li>Shortness of breath</li>
<li>Feeling tired or weak</li>
<li>New onset of wheezing</li>
</ul>
</td>
</tr>
<tr style="text-align:center;">
<td colspan="2" style="border:1px solid black;"><strong>Signs and symptoms of lung cancer that has spread</strong></td>
</tr>
<tr>
<td style="padding:15px;">
<ul><li>Bone pain (like pain in the back or hips)</li>
<li>Nervous system changes (such as headache, weakness or numbness of an arm or leg, dizziness, balance problems, or seizures), from cancer spread to the brain</li>
</ul>
</td>
<td style="padding:15px;">
<ul>
<li>Swelling of lymph nodes (collection of immune system cells) such as those in the neck or above the collarbone</li>
<li>Yellowing of the skin and eyes (jaundice), from cancer spread to the liver</li>
</ul>
</td>
</tr>
</table>



<p>Research also shows that symptoms can vary widely among patients. A <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7678343/" target="_blank" rel="noreferrer noopener">2020 study</a> of nearly 10,000 people in Spain diagnosed with lung cancer found that the most common symptoms at diagnosis were cough, pain, shortness of breath (also called dyspnea), and weight loss. However, each of these symptoms were present in one-third of patients or less — there was not a single telltale symptom present in a majority of patients. These findings underscore that the presence or absence of certain symptoms is not enough to rule out a diagnosis of the disease.&nbsp;</p>



<p>And because many lung cancer symptoms overlap with symptoms of <a href="https://www.moffitt.org/cancers/lung-cancer/diagnosis/" target="_blank" rel="noreferrer noopener">other conditions</a>, like pneumonia, asthma, or even acid reflux, diagnosis of the disease can be even more challenging. While Susan’s cancer was detected on an MRI she received because of her hip pain, the non-specific nature of lung cancer symptoms and the mistaken idea that smoking is the only risk factor can lead to delayed diagnosis for many patients.</p>



<p>Unlike Susan, some people have no symptoms whatsoever. The 2020 Spanish study found that more than <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7678343/" target="_blank" rel="noreferrer noopener">30% of patients</a> had no symptoms when they were diagnosed. This number increased to more than <strong>50%</strong> when patients were diagnosed at an early stage, before the disease had spread. Yovana Maria Portillo, a lung cancer patient advocate, experienced a similar diagnosis. She was shocked when she was diagnosed at age 35 — without risk factors — after receiving a scan following a car accident. <strong>“Having discovered it at stage 1 feels like I had lung cancer handed to me on a silver platter,”</strong> Yovana says. Now several years post-diagnosis, she has married and became a parent. <strong>“Without the car accident which led to early detection, who knows what may have happened.”</strong></p>



<p>Yovana’s story shows how critical early detection can be. When symptoms appear, lung cancer is more likely to have already spread and be more difficult to treat. In contrast, people diagnosed with early-stage lung cancer tend to live longer or can even be cured.&nbsp;</p>



<h2 class="wp-block-heading" id="h-closing-the-gaps-in-lung-cancer-screening">Closing the Gaps in Lung Cancer Screening</h2>



<p>Like with some other types of cancer, there <em>is</em> a way to screen for lung cancer: a low-dose CT scan (LDCT). <a href="https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/lung-cancer-screening" target="_blank" rel="noreferrer noopener">Current US guidelines</a> recommend screening for people ages 50–80 with a 20-pack-year smoking history who currently smoke or have quit within the past 15 years.&nbsp;</p>



<p>Unfortunately, the vast majority of people who are eligible for lung cancer screening don’t receive it. A recent study in the <a href="https://jamanetwork.com/journals/jama/fullarticle/2841694?guestAccessKey=c15ee108-8975-42d3-9e53-cd011faf5290&amp;utm_source=for_the_media&amp;utm_medium=referral&amp;utm_campaign=ftm_links&amp;utm_content=tfl&amp;utm_term=111925" target="_blank" rel="noreferrer noopener"><em>Journal of the American Medical Association</em></a> (JAMA) found that only 19% of eligible people are up-to-date on lung cancer screening. However, if everyone eligible were routinely screened, <strong>more than 60,000 lives</strong> could be saved by 2030. Much work remains to ensure everyone eligible for screening knows about and has access to this life-saving healthcare measure.&nbsp;</p>



<p>Even more troubling than low screening rates: <a href="https://pubmed.ncbi.nlm.nih.gov/39864777/" target="_blank" rel="noreferrer noopener">more than half</a> of people diagnosed with lung cancer <strong>would not be eligible</strong> for screening under current guidelines — including people like Susan, Dr. Fanale, and Yovana. This means that today’s system misses many of those at risk. Closing these gaps in screening eligibility could significantly improve outcomes and save thousands of lives each year. For example, the recent JAMA study estimates that extending screening to individuals with <em>any</em> history of smoking could <a href="https://jamanetwork.com/journals/jama/fullarticle/2841694?guestAccessKey=c15ee108-8975-42d3-9e53-cd011faf5290&amp;utm_source=for_the_media&amp;utm_medium=referral&amp;utm_campaign=ftm_links&amp;utm_content=tfl&amp;utm_term=111925">prev</a><a href="https://jamanetwork.com/journals/jama/fullarticle/2841694?guestAccessKey=c15ee108-8975-42d3-9e53-cd011faf5290&amp;utm_source=for_the_media&amp;utm_medium=referral&amp;utm_campaign=ftm_links&amp;utm_content=tfl&amp;utm_term=111925" target="_blank" rel="noreferrer noopener">ent up to 30,000 additional deaths</a> by 2030.</p>



<p>To further improve early detection, however, we need a clearer understanding of who is vulnerable and why.</p>



<h2 class="wp-block-heading" id="h-why-we-need-more-research">Why We Need More Research</h2>



<p>After Susan’s diagnosis, she and her family searched for answers. They tested their homes for <a href="https://www.cdc.gov/radon/about/index.html" target="_blank" rel="noreferrer noopener">radon</a> — an odorless, colorless, radioactive gas that can build up inside buildings and trigger mutations inside the lungs. Susan also had comprehensive genetic testing to look for heritable DNA changes linked to cancer. One such mutation is found in the <a href="https://go2.org/blog/groundbreaking-research-on-inherited-gene-mutation-in-lung-cancer-published-in-journal-of-clinical-oncology/" target="_blank" rel="noreferrer noopener"><em>EGFR</em> gene</a> and measurably increases individuals’ lung cancer risk (much like <a href="https://www.nationalbreastcancer.org/what-is-brca/" target="_blank" rel="noreferrer noopener"><em>BRCA</em> mutations</a> in heritable breast cancer). But neither of these efforts found anything that explained Susan’s diagnosis.</p>



<p>For many patients, the cause likely isn’t one thing — it’s an interplay of genetics, environment, and lifestyle factors we still don’t fully understand. For example, we don’t yet know why <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2409903/" target="_blank" rel="noreferrer noopener">80–90 percent</a> of people with a history of smoking never develop lung cancer. Is it possible something about their genetics protects them from harmful exposures?&nbsp;</p>



<p>These are the kinds of questions the <a href="https://www.23andme.com/lung-cancer/">Lung Cancer Genetics Study</a> aims to answer. A collaboration between <a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener">Troper Wojcicki Philanthropies</a>, the 23andMe Research Institute, and more than 20 lung cancer advocacy organizations, the study will examine data on tumor and heritable genetics alongside environmental exposure data. Greater understanding of the role genetics and lifestyle factors play in lung cancer may help researchers identify risk factors and could be a step towards improving screening and identifying those at risk earlier. As Dr. Fanale notes, <strong>“Improvement in early detection and access to treatment is absolutely necessary. The 23andMe Lung Cancer Genetics Study sets us on this path.”</strong></p>



<h2 class="wp-block-heading" id="h-susan-s-legacy-lives-on">Susan’s Legacy Lives On</h2>



<p>Just as the Lung Cancer Genetics Study was taking off, Susan’s health declined, and she passed away in August 2024. Her legacy, however, continues through this initiative <a href="https://blog.23andme.com/articles/a-legacy-of-hope-in-the-fight-against-lung-cancer" target="_blank" rel="noreferrer noopener">she helped spark</a>. Her drive to create something lasting and transformative reflects her commitment to patients, families, and future generations.</p>



<p>Today, the <a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener">Lung Cancer Genetics Study</a> stands as a beacon of hope in lung cancer research. By bringing together patients, families, and the scientific community, it holds the promise of uncovering insights that could reshape the future of lung cancer care.You can learn more about the 23andMe Research Institute study, our collaborators, and eligibility criteria at the study website: <a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener">https://www.23andme.com/lung-cancer/</a>.</p>


What Patient Stories Teach Us About Lung Cancer


<p>November is Lung Cancer Awareness Month, a critical time to highlight the <a href="https://acsjournals.onlinelibrary.wiley.com/doi/10.3322/caac.21834#" target="_blank" rel="noreferrer noopener">world&#8217;s most deadly</a> form of cancer. Unfortunately, research into this devastating disease remains significantly underfunded. At the 23andMe Research Institute, we are committed to raising awareness and changing the nature of research into this disease. In <a href="https://blog.23andme.com/articles/23andme-launches-new-genetic-study-of-lung-cancer" target="_blank" rel="noreferrer noopener">July 2024</a>, 23andMe, Troper Wojcicki Philanthropies, and 20 patient and research advocacy organizations launched the <a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener">Lung Cancer Genetics Study</a>. Overseen by scientific and patient advisory boards, the goal is to enroll 10,000 individuals who have been diagnosed with lung cancer to help build a comprehensive genetics research database that captures the diversity of people impacted by the disease.&nbsp;</p>



<p>This mission is a personal one, championed by the late Susan Wojcicki, former YouTube CEO and sister of Anne Wojcicki, the founder and CEO of the 23andMe Research Institute. After her own diagnosis, Susan dedicated herself to <a href="https://blog.23andme.com/articles/a-legacy-of-hope-in-the-fight-against-lung-cancer" target="_blank" rel="noreferrer noopener">advocating for more research and awareness</a> to improve outcomes for all patients. Her legacy and vision are at the heart of these efforts.</p>



<h2 class="wp-block-heading" id="h-more-about-lung-cancer">More About Lung Cancer</h2>



<p>Lung cancer kills more people each year in the United States than <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">colon, breast, and prostate cancer combined</a>. On top of the challenge of a cancer diagnosis, a lung cancer diagnosis often comes with the additional challenge of the myth that lung cancer affects only those with a history of tobacco use. This misconception often leads to a <a href="https://go2.org/lung-cancer-stigma/" target="_blank" rel="noreferrer noopener">harmful stigma</a>, unfairly suggesting that individuals somehow deserve the disease or brought it upon themselves. However, the truth is that anyone with lungs can get lung cancer, and no one deserves it.</p>



<p>While exposure to tobacco smoke is an important and well-studied risk factor for lung cancer, <a href="https://www.cancer.org/cancer/types/lung-cancer/causes-risks-prevention/what-causes.html" target="_blank" rel="noreferrer noopener">many other factors</a>—such as genetics, other health conditions, or exposure to harmful substances like air pollution or radon gas—can also play a role. In fact, <a href="https://www.cdc.gov/lung-cancer/nonsmokers/index.html" target="_blank" rel="noreferrer noopener">10–20 percent </a>of people who develop lung cancers have never smoked or smoked less than 100 cigarettes in their lifetime. Conversely, <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2409903/" target="_blank" rel="noreferrer noopener">80–90 percent</a> of people with a history of tobacco exposure never get the disease. The causes of lung cancer are complex, and much research is still needed to understand how different risk factors interact and why some people get lung cancer while others do not. Breaking down this stigma is critical to building awareness, driving progress, and increasing research and funding into this deadly disease.</p>



<h2 class="wp-block-heading" id="h-the-lung-cancer-genetics-study">The Lung Cancer Genetics Study</h2>



<p>In its first year alone, the Lung Cancer Genetics Study has enrolled over 1,200 participants. By studying their genetic data alongside survey responses about their experience, medical history, and lifestyle, we aim to transform the scientific understanding of this disease.</p>



<p>This research aims to help:</p>



<ul class="wp-block-list">
<li>Identify risk factors for lung cancer.</li>



<li>Improve methods for early detection and screening.</li>



<li>Better identify individuals who are at high risk.</li>



<li>Advance the development of new, personalized, and targeted treatments.</li>
</ul>



<p>One of the first questions this study is asking is how can someone’s genetics and what they’re exposed to in their environment interact to impact their risk of lung cancer. Early data addressing this question was presented at the <a href="https://wclc.iaslc.org/" target="_blank" rel="noreferrer noopener">IASLC 2025 World Conference on Lung Cancer</a>. For this analysis, 23andMe researchers explored whether a set of rare, genetic variants might impact lung cancer risk differently in people who have smoked compared to people who haven’t smoked. To do this, they examined data from 1010 individuals with lung cancer and asked whether the rare genetic variants were more common in people with or without a history of active tobacco exposure.&nbsp;</p>



<p>The researchers found <a href="https://www.sciencedirect.com/science/article/abs/pii/S1556086425022518" target="_blank" rel="noreferrer noopener">no correlation</a> between the presence of these rare genetic variants and smoking history in these individuals. But research like this often requires large numbers of research participants, so as the Lung Cancer Genetics Study grows and joins forces with other studies, researchers can reassess and continue to look for genetic variants that may influence the development of lung cancer and learn even more about how genetics and the environment impact lung cancer risk.</p>



<h2 class="wp-block-heading" id="h-collaboration-and-data-sharing">Collaboration and Data-Sharing</h2>



<p>A key part of this initiative is building powerful new tools to break down research silos. In collaboration with Troper Wojcicki Philanthropies and Lifebit, the 23andMe Research Institute introduced <a href="https://blog.23andme.com/articles/powerful-new-tool-opens-lung-cancer-data-for-research-breakthroughs" target="_blank" rel="noreferrer noopener">a secure, open-source data platform</a> for researchers to access the data from the Lung Cancer Genetics Study. This platform provides qualified researchers with no-cost access to genetic data and self-reported clinical, lifestyle, and tumor biomarker data from consented research participants, empowering the global scientific community to fast-track new discoveries. Importantly, patients will participate in the data governance process by reviewing and giving feedback on proposed research projects to ensure the work stays grounded in what matters most.</p>



<h2 class="wp-block-heading" id="h-how-you-can-get-involved">How You Can Get Involved</h2>



<p>This critical research is only possible through the participation of those directly affected by lung cancer. By participating, those who have been diagnosed with lung cancer can help build the knowledge base needed to unlock new breakthroughs for future generations.</p>



<p><strong>To learn more about the Lung Cancer Genetics Study, our collaborators, and the eligibility criteria, please visit</strong><a href="https://www.23andme.com/lung-cancer/" target="_blank" rel="noreferrer noopener"><strong> 23andme.com/lung-cancer</strong></a><strong>.</strong></p>



<p></p>


Uniting for a Cure: A Look at 23andMe’s Lung Cancer Research


<p>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.</p>



<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>



<p>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<sup>®</sup> 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.</p>



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



<p>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.</p>



<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>



<p>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.</p>



<p>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?</p>



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



<p>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.</p>



<p>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;</p>



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



<p>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.</p>



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



<p>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;</p>



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



<p>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.</p>



<p>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>.</p>



<p>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.</p>



<p></p>


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


<p>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<sup>®</sup> Research Institute contributes to a healthier future for everyone.</p>



<ul class="wp-block-list">
<li><strong>Amplifying impact:</strong> 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><strong>Fostering collaboration:</strong> 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><strong>Staying on the cutting edge:</strong> 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>



<p>For those attending, stop by our posters in the following sessions:</p>



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



<p>presented by Emily DelloRusso, Principal Regulatory Science Manager</p>
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<p id="block-e05b9433-cb70-4375-8c5a-ad9bb51dafb9">THURSDAY, OCTOBER 16TH 2:30 &#8211; 4:30 PM (Posters; Board #2035T)<br><strong>Explore23: a privacy-forward, secure, extensible, and easy-to-use web application for exploration of a large genomic research cohort</strong></p>



<p id="block-e05b9433-cb70-4375-8c5a-ad9bb51dafb9">presented by Julie Granka, Director, Statistical Genetics</p>
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<p>FRIDAY, OCTOBER 17TH 2:30 &#8211; 4:30 PM (Posters; Board #3014F)<br><strong>Learning about a genetic predisposition to depression is psychologically well tolerated among those with high polygenic risk scores</strong></p>



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



<p></p>


23andMe Research Institute Attending ASHG 2025


<p>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.</p>



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



<p>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.</p>



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



<p>Researchers found that having ever used cannabis was associated with two genetic regions: <strong><em>CADM2</em></strong>—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 <strong><em>GRM3</em></strong>. 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 <em>CADM2</em>, strengthening this gene’s role in cannabis behaviors.<br><br>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 <strong>polygenic scores</strong>—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.</p>



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



<p>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;</p>



<p>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.</p>



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



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



<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 <em>GRM3</em> 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>



<p>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:</p>



<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>



<p><strong>Takeaway:</strong> 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.</p>


New Genetic Insights Into Cannabis Use


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



<p>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.</p>



<p>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.</p>



<p>The groundbreaking research, published this week in the journal <a href="https://pubmed.ncbi.nlm.nih.gov/41028019/" target="_blank" rel="noreferrer noopener"><em>Scientific Reports</em></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. </p>



<p>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;</p>



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



<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>



<p>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.</p>



<p>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;</p>



<p>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.</p>



<p>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;</p>



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



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



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<p>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.</p>



<p>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;</p>



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



<p>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;</p>



<p>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.</p>



<p>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.</p>



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


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">
<p><em>This October, for Breast Cancer Awareness Month, we will be sharing some of the latest research on this important topic.</em></p>
</div>



<p>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.</p>



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



<p>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;</p>



<p>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.</p>



<p>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;</p>



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



<p>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.</p>



<p>Why might this be the case?&nbsp;</p>



<p>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.</p>



<p>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;</p>



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



<p>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.</p>


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


<p>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.</p>



<p>But that is now changing.</p>



<p><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.</p>



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



<p>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.</p>



<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>



<p>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.</p>



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



<p>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.</p>



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



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



<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>



<p>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.</p>



<p>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.</p>



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



<p>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</p>



<p>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.</p>



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



<p>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.</p>



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



<p>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.</p>



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Research