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.



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

<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>



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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.



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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

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This October, for Breast Cancer Awareness Month, we will be sharing some of the latest research on this important topic.
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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

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.



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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

For many of us, reading is second nature, but it&#8217;s an arduous challenge for 5–10% of school-aged children with dyslexia. <a href="https://pubmed.ncbi.nlm.nih.gov/40825760/" target="_blank" rel="noreferrer noopener">A new genetic study</a>—the largest of its kind to date—is helping scientists to expand our understanding of the genetic foundations of reading and dyslexia, uncovering dozens of previously unknown genetic factors. 



<h2 class="wp-block-heading" id="h-what-we-already-knew">What We Already Knew</h2>



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="683" src="http://35.88.189.111/wp-content/uploads/2025/08/open_book-1024x683.jpg" alt="" class="wp-image-34166" style="width:364px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book-1180x786.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/open_book.jpg 2048w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<a href="https://blog.23andme.com/articles/study-identifies-genetic-links-to-dyslexia" target="_blank" rel="noreferrer noopener">Previous research</a>, using data from consented 23andMe research participants, had already successfully identified 42 genetic variants linked to a self-reported diagnosis of dyslexia and demonstrated that many of these genetic variants are also linked to cognitive ability and educational attainment.



This earlier work also supported a key idea: dyslexia isn&#8217;t a biologically distinct condition, but rather represents the lower end of a continuous spectrum of reading ability that varies naturally across the population.



<h2 class="wp-block-heading" id="h-a-bigger-bolder-approach">A Bigger, Bolder Approach</h2>



So, how do you find even more subtle genetic clues? You build a more powerful magnifying glass.



In this latest effort, researchers used a method, called multi-trait analysis of GWAS (MTAG), to combine the statistical power of two massive datasets:



<ol class="wp-block-list">
<li>The GenLang Consortium&#8217;s study on reading skill (involving ~27,000 people).</li>



<li>The 23andMe study on dyslexia (involving over 1.1 million research participants).</li>
</ol>



By merging the results, scientists created an effective sample size of over 1.2 million individuals, dramatically boosting their power to detect genetic variants associated with dyslexia.



<h2 class="wp-block-heading" id="h-landmark-discoveries">Landmark Discoveries</h2>



The results from this powerful analysis represent a leap forward in our understanding of the genetics of dyslexia and reading ability.



<h3 class="wp-block-heading" id="h-dozens-of-new-genetic-loci">Dozens of New Genetic Loci</h3>



The study found 80 independent genome-wide significant regions linked to dyslexia. Of those, 36 had never been found by previous studies. Even more exciting, 13 of these regions were completely novel, with no prior known association with dyslexia.



<h3 class="wp-block-heading" id="h-clues-in-brain-development">Clues in Brain Development</h3>



Digging deeper, many of the genes located in these newly identified regions play a role in early brain development. Specifically, they are highly active in neuronal pathways, especially during embryonic brain development. This provides new insights into how the brain may be wired for reading ability.



<h3 class="wp-block-heading" id="h-an-evolutionary-angle">An Evolutionary Angle</h3>



Interestingly, the researchers looked to see if there was evidence that the genetic factors influencing dyslexia have been subject to recent evolutionary pressure and found none. In other words, there does not appear to be any evolutionary advantage from the genetic variants associated with dyslexia for humans as we transitioned from hunter-gatherer societies to agricultural ones in Europe.



<h2 class="wp-block-heading" id="h-the-big-picture-and-what-s-next">The Big Picture and What&#8217;s Next</h2>



This research expands our map of the genetic landscape of dyslexia. By identifying the biological pathways involved, new avenues for future research into why reading is difficult for some people and how to develop better support strategies are opened.



It’s crucial to remember that genes are not destiny. The research team created a polygenic index—also known as a polygenic score—that tallies the effects of multiple genetic variants. This index was able to predict between 2.3% and 4.7% of the variance in reading skills in a separate, independent group of individuals. Meaning that there may be other genetic factors, but also education, environment, and support systems that help determine reading skills.



Finally, like much genetic research, this work was conducted primarily in people of European descent. A critical next step is to conduct similar large-scale studies in more diverse populations to ensure that the insights and potential benefits of this research can apply to everyone.

New Study Expands Our Understanding of the Genetics of Dyslexia

Have you ever wondered why some people stutter? You’re not alone. Developmental stuttering—disruptions in the normal flow of speech, like repeating sounds or involuntary pausing on words— affects more than 400 million people worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/40721530/" target="_blank" rel="noreferrer noopener">A new genetic study</a>, powered in part by data from more than one million consented 23andMe research participants, offers exciting insights into the genetics behind stuttering.



<h2 class="wp-block-heading" id="h-stuttering-often-starts-young-and-many-kids-recover">Stuttering Often Starts Young—And Many Kids Recover</h2>



Most people who stutter begin showing signs between ages 2 and 5. For many, it’s temporary—about 80% of children who stutter will recover, often naturally and sometimes with the help of speech therapy. Interestingly, boys and girls are about equally likely to start stuttering, but by the time they reach adulthood, men are four times more likely to continue stuttering compared to women.



<h2 class="wp-block-heading" id="h-the-genetics-of-stuttering-a-new-look">The Genetics of Stuttering: A New Look</h2>



Until recently, research into the genetics of stuttering has been limited to a handful of rare genetic variants identified in families. But a new large-scale study is changing that. By combining genetic data from over a million individuals, researchers identified 57 genetic variants (in or near 48 unique genes) linked to self-reported stuttering.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="616" height="378" src="http://35.88.189.111/wp-content/uploads/2022/11/Visualize-GWAS.jpg" alt="" class="wp-image-30872" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/11/Visualize-GWAS.jpg 616w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg 300w" sizes="auto, (max-width: 616px) 100vw, 616px" /></figure>



Some of these genetic signals were ancestry- or sex-specific, meaning they were only significant associations in certain populations. Others were shared across groups, highlighting the complex nature of the genetics behind stuttering.



And there’s more: while most previously reported variants were too rare or not included in the dataset, this study still found strong genetic signals in three of the six candidate genes previously linked to stuttering—GNPTAB, GNPTG, and AP4E1—adding new weight to past findings.



Some of the genetic findings in this study also overlap with traits like depression, autism, and even beat synchronization (your ability to accurately synchronize your movements with a musical beat). These overlaps suggest that stuttering might share some genetic similarity with these other traits.



<h2 class="wp-block-heading" id="h-the-value-of-diversity-in-genetic-research">The Value of Diversity in Genetic Research</h2>



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="406" height="444" src="http://35.88.189.111/wp-content/uploads/2024/02/CRC-Group.jpg" alt="An image to represent African Americans participating in 23andMe's colorectal cancer research." class="wp-image-32581" style="width:240px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/02/CRC-Group.jpg 406w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/02/CRC-Group-274x300.jpg 274w" sizes="auto, (max-width: 406px) 100vw, 406px" /></figure>



One important takeaway from this study is the value—and the current limits—of genetic diversity in research. Researchers were able to create a polygenic risk score (PRS) for stuttering using data from people of European descent and found that it predicted stuttering risk well in both independent clinical and self-reported datasets. However, a lack of large, diverse datasets meant that the team couldn’t validate similar scores for people from other ancestry groups.



That’s why increasing diversity in genetic studies is so important. It helps ensure that the insights we gain are applicable to everyone.



<h2 class="wp-block-heading" id="h-what-this-means-for-the-future">What This Means for the Future</h2>



This study marks a major step forward in understanding the genetic contribution to stuttering. It confirms that stuttering, like many other traits, is influenced by a complex mix of genetic factors. And it highlights the importance of building inclusive, diverse research databases to ensure that discoveries can benefit as many people as possible.



Whether you’ve experienced stuttering yourself, know someone who has, or are just curious about the science of speech, studies like this help us better understand the fascinating interplay between genetics and communication.



Learn more about this study from our collaborators at <a href="https://news.vumc.org/2025/07/28/large-scale-study-defines-genetic-architecture-of-stuttering/" target="_blank" rel="noreferrer noopener">Vanderbilt University Medical Center</a> and learn more about <a href="https://www.23andme.com/research/" target="_blank" rel="noreferrer noopener">research at 23andMe</a>.

Why Do People Stutter? Genetics Holds Some Clues

A <a href="https://pubmed.ncbi.nlm.nih.gov/40691366/" target="_blank" rel="noreferrer noopener">new study</a> published this week demonstrates just how powerful large-scale genetic research can be when it comes to predicting health traits—like body weight. By combining data from consented 23andMe research participants with the GIANT consortium, an international group of scientists have created the most predictive polygenic score for body mass index (BMI) to date. The study used genetic data from up to 5.1 million individuals from diverse backgrounds, helping push the science forward in important and inclusive ways.



<h2 class="wp-block-heading" id="h-what-s-a-polygenic-score">What’s a Polygenic Score?</h2>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg" alt="" class="wp-image-25916" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz-1180x663.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/12/Data-Viz.jpg 1366w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Think of a polygenic score (sometimes called a polygenic risk score or PRS) as a genetic summary. It adds up the small effects of many different genetic variants—often thousands or even millions—that are each linked to a trait, like BMI. The higher your score, the higher your predicted BMI. These scores are increasingly used in research, and even clinical settings, to better understand traits and potential health risks.



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



One of the big takeaways from this research? The more data we include in building a polygenic score, the more accurate the predictions become. Thanks to the massive dataset, this new BMI polygenic score is one of the most accurate developed so far—and it&#8217;s also more applicable to people of diverse ancestries than previous versions.



Still, it’s important to note that while this polygenic score performs better across different populations, its accuracy is still highest in individuals of European descent. That’s because most genetic research to date has been heavily based on European-ancestry populations. Studies like this one help move the field toward more inclusive and equitable research.



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



<ul class="wp-block-list">
<li>Childhood weight gain: A higher BMI polygenic score was linked to faster weight gain starting from age 2.5 onwards and an earlier “adiposity rebound”—a key moment in childhood growth when BMI dips and then begins to increase again. This could help identify children at higher risk of becoming overweight before other warning signs appear. </li>



<li>Adult weight change: Between ages 20 and 50, people with higher BMI polygenic scores were more likely to gain weight. Interestingly, this was especially true for those who started adulthood at a weight lower than what their genetics might predict. It suggests that individuals with a genetic predisposition to higher weight may eventually &#8220;catch up&#8221; to their genetic set point over time. </li>



<li>Lifestyle changes: In lifestyle intervention studies (think: intensive diet and exercise programs), people with a higher genetic predisposition to obesity tended to lose more weight during the first year—but they were also more likely to regain it. This pattern fits with previous research showing that people who are genetically predisposed to obesity often respond more dramatically to environmental changes, both positive and negative. </li>
</ul>



<h2 class="wp-block-heading" id="h-what-this-study-doesn-t-say">What This Study Doesn’t Say</h2>



This research doesn’t mean that lifestyle doesn’t matter. In fact, it’s just the opposite. Even with a high genetic predisposition to obesity, lifestyle choices—like diet, physical activity, sleep, and stress management—still have a meaningful impact. What polygenic scores offer is insight into who may be at higher risk and might benefit most from early interventions or targeted prevention strategies.



<h2 class="wp-block-heading" id="h-final-thoughts">Final Thoughts</h2>



Your genes are only one part of the story. While this research gives us a clearer picture of how genetics influence weight over time, it also highlights the importance of using that information wisely. At 23andMe, we believe that understanding your genetics can empower you to make informed health decisions—not define your destiny. As science continues to evolve, so do the tools we have to support healthier, more personalized approaches to wellness.

What Your DNA Can (and Can’t) Tell You About Weight: New Study Highlights the Power of Polygenic Scores

A new genetic study looking at smoking and drinking has confirmed much of what we already know about their impact on your health, but the study also found genetic associations that offer new insights into alcohol and tobacco use, as well as addiction.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/01/Smoking-image-2-300x201.jpg" alt="" class="alignright size-medium wp-image-26841" width="300" height="201" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2-300x201.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2-768x514.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2-1024x685.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2-880x589.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2-1180x790.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/Smoking-image-2.jpg 1252w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published this week in the journal<a href="http://dx.doi.org/10.1038/s41588-018-0307-5"> Nature Genetics</a>, the study is one of the largest genome-wide association studies to date, using data from more than 1.2 million people. Researchers working on this study found more than 500 genetic variants associated with smoking and alcohol use, including newly identified genetic associations that link alcohol and tobacco use with the release of dopamine in the brain. Dopamine plays an essential role in reward-based behavior, and the finding may help researchers better understand why quitting smoking or problem drinking is more difficult for some than it is for others.
<h6>Smoking, Drinking and Disease</h6>
The study also showed that tobacco use was closely associated with a range of diseases — not just lung cancer. While that was not unexpected, the researchers were surprised that social drinkers — those who drank a moderate amount of alcohol each week — had fewer illnesses. This adds more fodder to the debate around whether moderate drinking may be beneficial to one’s health. Of course, there may be other explanations for this; for example, individuals who are more open and extraverted may be more likely to be social drinkers, and individuals with outgoing personalities may have better outcomes than those who are more anxious and less social, who in turn may be less likely to drink.
Much of the data for this study came from 23andMe customers who consented to participate in research and answered survey questions about smoking and drinking. The remaining data came from more than two-dozen other study cohorts. Led by researchers at the University of Minnesota, the work on this study also involved contributions from dozens of other scientists from institutions that are part of<a href="https://gscan.sph.umich.edu/"> GWAS &amp; Sequencing Consortium of Alcohol and Nicotine Us (GSCAN)</a>.
<h6>Other Studies</h6>
This is one of several genetic studies published in the last few months to look at addictive behavior, including alcohol and nicotine use. In November, a team of researchers<a href="https://blog.23andme.com/23andme-research/new-research-shows-shared-genetic-link-between-alcohol-dependence-and-psychiatric-disorders/"> found shared genetic influences</a> between alcohol dependence and depression, ADHD, and schizophrenia. They also looked at genetic correlations between alcohol dependence and individual traits, like nicotine addiction, depression, and BMI. That study also found a distinct difference between casual alcohol consumption and heavier alcohol use, suggesting that social drinking is not associated with depression, but problem drinking and alcoholism are.
Another study on<a href="https://blog.23andme.com/23andme-research/the-genetics-of-alcoholism/"> alcohol dependence</a> published last fall also found genetic associations that overlapped with increased genetic risk for major depression, schizophrenia, and attention-deficit/hyperactivity disorder.
The GSCAN study published this week adds to these previous findings, offering more information to better understand the genetics of substance use and addiction.
You can find the paper in<a href="http://dx.doi.org/10.1038/s41588-018-0307-5"> Nature Genetics</a>.

Genetic Study of Nicotine and Alcohol Use Offers Insight into Addiction

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4551" title="iStock_000005457151XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/iStock_000005457151XSmall.jpg" alt="iStock_000005457151XSmall" width="346" height="229" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/09/iStock_000005457151XSmall.jpg 425w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/09/iStock_000005457151XSmall-300x199.jpg 300w" sizes="auto, (max-width: 346px) 100vw, 346px" />
Although environment plays a major part in addiction – you can&#8217;t get hooked on something you&#8217;ve never tried – genetics plays a substantial role in determining whether a person who does use a drug will become addicted to it.
A few DNA variations have been identified that seem to increase the odds a person will become addicted to a specific drug. But <a href="https://www.ncbi.nlm.nih.gov/pubmed/10401514" target="_blank" rel="noopener noreferrer">twin studies suggest</a> that there might be genes influencing addiction in general.
Xiang Chen and colleagues at Yale and Princeton set out to find some of these genes by analyzing the genetic data from several cohorts of people previously studied for addictions. &nbsp; The researchers&#8217; approach was to look for variations found more frequently in people addicted to at least two out of six categories of substances: nicotine, alcohol, marijuana, cocaine, opiates and other drugs. &nbsp; Their results, published online this week in the Proceedings of the National Academy of Sciences, reveal a significant association between addiction and variations in a gene, PKNOX2, previously associated with alcohol dependence in mice.
The strongest signal was seen with in white women was found at a SNP inthe PKNOX2 gene and was associated with a higher risk for addition. The association of with addiction did not hold when the researchers looked at individual substances separately.
&#8220;This suggests that substance dependence or addiction as a whole has different risk genes compared to any single addiction outcome,&#8221; the authors write.
The authors admit that there are weaknesses in their study. &nbsp; For example, people addicted to two or more substances might just have more access to drugs – not a biological predisposition to addiction. &nbsp; Moe research in this area will definitely be needed.
SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.
&nbsp;

Genetic Variation Associated With Addiction In Caucasian Women

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? 

In the hunt for new medications where the odds are stacked against you, where fewer than one in ten drug programs succeed, you need an edge.



A new study by <a href="https://therapeutics.23andme.com/">23andMe’s Therapeutics</a> and Research teams builds upon<a href="https://www.nature.com/articles/s41586-024-07316-0"> previous research</a>, indicating that human genetic data offers that kind of advantage and doubles or triples the success rate of drug development. 



If you add improved gene mapping to your toolbox, as 23andMe has done for this study, the success rate improves by four or five times. Moreover, the <a href="https://blog.23andme.com/articles/the-power-of-large-genetic-datasets">sheer scale </a>of the 23andMe data ensures that genetic insights linking a drug target to disease are available for 60 percent more drug targets than from other resources. 



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="489" src="http://35.88.189.111/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-1024x489.png" alt="An illustration of genetic driven drug discovery from GWAS to Clinical Trials." class="wp-image-33337" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-1024x489.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-300x143.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-768x367.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-880x420.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/Genetic-Driven-Drug-Discovery-1180x564.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Traditional drug development is risky, time-consuming, and costly.<a href="https://www.nature.com/articles/s41598-019-54849-w"> Ninety percent</a> of drugs fail. All those failures add time and money to the process. That means that getting a drug approved costs, on average,<a href="https://jamanetwork.com/journals/jama/article-abstract/2762311"> about $1 billion</a> and takes more than a decade. Only about 50 new drugs are approved in an average year by the FDA. There were<a href="https://www.fda.gov/drugs/novel-drug-approvals-fda/novel-drug-approvals-2023"> 55 in 2023</a>, and so far this year, there have been 24. This is despite the billions spent each year by pharmaceutical companies on research and development for new medications.



<h2 class="wp-block-heading" id="h-a-massive-opportunity">A Massive Opportunity</h2>



Previous work has pointed to human genetics as one way to reverse this trend, and several companies are now relying on human genetics as a starting point for drug target discovery. We now show unequivocally that using human genetic data at scale could radically change the hunt for new drugs, helping to get new medicine to people who need it faster and more efficiently. 



&#8220;There&#8217;s still a massive amount of value left utilizing human genetics for <a href="https://blog.23andme.com/articles/drug-discovery-explained">drug development</a>,&#8221; said Adam Auton, Ph.D., Vice President of Human Genetics at 23andMe and a study co-author. &#8220;We&#8217;ve just scratched the surface, and the scale of the 23andMe dataset allows us to draw links between genes and disease that aren’t possible to find anywhere else. 23andMe continues to invest in new capabilities and computational approaches such as integrating artificial intelligence and machine learning into our discovery pipeline.&#8221;



The new study, released on<a href="https://www.medrxiv.org/content/10.1101/2024.06.17.24309059v1"> MedRxiv</a>, a preprint server for health scientists, offers a peek behind the curtain into 23andMe&#8217;s massive and powerful therapeutic research database. In this post, we hope to highlight some of its critical findings and illustrate how using human genetic data can support drug target discovery, target validation, and target de-risking in the drug development process.



“Traditional approaches to drug development are often a gamble, where nine out of ten programs fail. But with the scale and precision of 23andMe’s human genetic data, we&#8217;re changing the odds,&#8221; said Xin Wang, PhD, a 23andMe Therapeutics Senior Scientist and the lead author of the study. 



&#8220;Our study demonstrates that leveraging genetics can double or triple success rates and, when combined with advanced gene mapping, improve success by up to fivefold. Our methods ensure we&#8217;re targeting diseases more accurately and efficiently, bringing life-saving treatments to patients faster.&#8221;



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<iframe loading="lazy" title="Genomics Unmuted: The impact on clinical success from the 23andMe cohort" src="https://player.vimeo.com/video/998331419?dnt=1&amp;app_id=122963" width="500" height="281" frameborder="0" allow="autoplay; fullscreen; picture-in-picture; clipboard-write"></iframe>
</div></figure>



<h2 class="wp-block-heading" id="h-size-amp-scale-why-big-is-better">Size &amp; Scale: Why Big is Better</h2>



23andMe has the world&#8217;s largest genetic and phenotypic database for therapeutic research. It&#8217;s vital to grasp the power of a resource of that scale.



For this study, 23andMe scientists used de-identified data from more than 7.5 million individuals who consented to participate in research. For perspective, that research cohort is almost twice the size of the combined total of all the major public biobanks worldwide.  Most of these biobanks number in the tens of thousands, while the largest are between 500,000 and one million. 23andMe has more than 15 million customers with genotype and phenotype information. More than 80 percent of 23andMe customers consent to participate in research and have contributed over 4 billion health and trait data points, including disease diagnosis, medication use, medication side effects, lifestyle, diet, and family health history.



Overall, the combined phenotypic and genetic data available for life sciences research from 23andMe is an order of magnitude larger than any other cohort.



The size and scale of 23andMe&#8217;s drug discovery database are critically important because they capture much more diversity. Having a diverse research database is essential for equity and because having enough data from people of different ethnicities helps discern genetic variants causing disease across these populations. Sometimes, a variant is more common in one population than in another. Including people of diverse ethnicities offers more potential to identify targets not easily identified in a more homogenous dataset.



Bigger is better because as the size of 23andMe&#8217;s database grows and as we apply new technologies like AI and machine learning to this massive dataset, researchers can find more genetic associations, leading to more potential drug targets.



<h2 class="wp-block-heading" id="h-gene-mapping-and-more-targets">Gene Mapping and More Targets</h2>



For example, the total number of target-indication pairs is 60 percent greater with 23andMe&#8217;s dataset than from public biobank data. A target-indication pair is the pairing of a specific condition or disease, known as ‘an indication,’ to a specific protein or biological ‘target.’ Identifying these target-indication pairs is an essential first step in drug discovery and development. As part of this study, 23andMe scientists found about 1,050 target-indication pairs for medically relevant conditions related to more than 41 disease categories, including different cancers, metabolic conditions, neurological conditions, and autoimmune diseases.



Just look at one of these conditions, asthma, to illustrate the power of size and scale. 23andMe has data for more than three million individuals within its asthma cohort — this includes those with asthma and those without the condition who are used as controls. From that cohort, researchers identified 652 significant genetic associations for asthma. For comparison, a <a href="https://www.cell.com/cell-genomics/pdf/S2666-979X(22)00165-3.pdf">2022 meta-analysis by researchers at the Broad Institute </a>included about 1.6 million individuals and identified 49 novel genetic associations among a total of 179 genetic associations found. 



The 652 significant genetic associations found for asthma is an example of one of more than 1,050 target-indication pairs for a medically relevant condition. In all, 23andMe scientists found more than 140,000 significant genetic associations for different common and rare conditions. That amounts to an average of 130 different genetic associations for each condition. In addition, those associations point to 15,007 genes associated with therapeutically relevant conditions, including 1,355 genes associated with conditions that scientists had not previously identified in public genetic studies. That amounts to about 5.9 to 18.8 novel indications per genetic association.



By adding gene mapping, scientists can more easily identify the likely causal gene for a genetic association and determine the mechanism for how a specific gene is related to a disease or condition. 23andMe researchers found that improved gene mapping methods from human genetic associations also improve relative success by four or five times. 



This is a potent tool for scientists who want more power in their work and offers a head start for those hunting for higher-confidence potential drug targets.



&#8220;The scale of the data enables me to perform studies in an afternoon at 23andMe that would have taken years in my previous academic life,&#8221; Auton once said about the research database.



<h2 class="wp-block-heading" id="h-from-gene-to-drug">From Gene to Drug</h2>



Traditional target-based drug discovery often doesn’t follow a direct path like a game of chutes and ladders. There are many dead ends, much trial and error, that might force researchers to scrap one target and start with another.



With a target identified, researchers can search for a compound that will hit that target. They then must test whether it is safe and effective. It must adequately bind to a specific disease-causing target in the body and trigger the correct response without affecting other parts of the body. If the drug has no effect or triggers an adverse reaction, the effort returns to square one. Each step in the process— from identifying the right target to finding a molecule or drug that will properly bind to that target to determining if that drug elicits the right response— is a potential point of failure.



However, using human genetic data offers an edge at each point, improving the potential for success. We’ve shown how human genetics dramatically boost the identification of a potential target; it can also enhance the chances of success at further steps in the process.&nbsp;



<h2 class="wp-block-heading" id="h-disease-subtypes">Disease Subtypes</h2>



But leveraging human genetic data isn’t just about boosting potential targets; it can also help in identifying disease subtypes and safety signals and identifying individuals best to recruit for clinical trials. Human genetic data can be used to identify disease subtypes, which may include different symptoms and progression and may also respond differently to a therapeutic. In addition, human genetic data can be used to identify safety signals, giving researchers more confidence that targeting a gene is safe. For example, with this large dataset, 23andMe researchers can identify individuals with a loss of function variant. Knowing that turning off that specific gene is not deleterious is incredibly important for drug development. Finally, researchers can use genetic data to help identify individuals for clinical trial recruitment who are most likely to respond to a therapeutic, further improving the chances for clinical trial success.



A drug target for an indication is not an actual target; it’s a potential target. Researchers must do additional work to determine if it is the right target for a specific condition. Making that determination is another crucial step that can be enhanced using human genetic data in gene mapping. Gene mapping is vital for understanding whether a potential target is relevant to a specific condition.



23andMe’s massive research data allows scientists to create a gene-mapping algorithm that, in turn, can improve the likelihood of clinical success of a drug target by four or five times, according to 23andMe’s new study. As part of this research, 23andMe scientists mapped 416 unique gene-trait associations, genes linked explicitly to about 190 different diseases or conditions.



Mapping a variant or drug target indication to a nearby gene is called “variant-to-gene mapping.” This “variant-to-gene mapping” helps researchers determine the most likely causal gene from a genetic association. Mapping that out involves using functional data—information on protein and molecular structures, data on biochemical interactions, and other data— to understand the link between a potential drug target and a specific health condition. 



Researchers use gene mapping to understand how a specific variant affects the function of a gene and its role in a disease or condition. Is it protective against a disease or condition, or is it causal? What happens if that gene expression is changed or turned on or off?



Rare variants offer another way of making these determinations because a rare variant precisely pinpoints causal genes at the point of a genetic association, something common variants don’t. In some cases, these rare variants might turn off gene expression, known as a “loss-of-function” variant. From a research standpoint, identifying these rare variants and understanding whether that loss of function is either deleterious or protective is incredibly powerful. Knowing that ahead of time gives researchers more confidence that targeting that variant is safe and or has the desired effect. One well-known example of this is a loss-of-function variant in the<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447476/"> PCSK9 gene that</a> lowers the level of LDL in the blood. That information has been used to develop cholesterol-lowering medications.



So, identifying rare variants offers researchers a shortcut for focusing on targets with the most promise for success. In addition, 23andMe researchers use machine learning to discern patterns in the data, match genes to diseases using genetic associations, and suggest possible useful drug candidates that match the target variants. 



<h2 class="wp-block-heading" id="h-the-human-genetic-advantage">The Human Genetic Advantage</h2>



For this research, 23andMe scientists analyzed trillions of data points to illustrate the advantage of adding human genetics in efficiently identifying drug targets, de-risking the drug development process, and dramatically boosting the probability of success.



The new study just scratches the surface of what is possible with this data resource&#8217;s vast scale and diversity. It also hints at what is possible when artificial intelligence and machine learning techniques are applied to this powerful human genetic database for drug discovery. 



“In an industry where just one in ten drugs make it to patients, the potential impact from what we’re doing at 23andMe and what our scientists have demonstrated with this paper could be game-changing,” said Auton. “We believe that 23andMe can enable the broader biotech industry to bring new drugs to patients faster and more cheaply. ”

A New Era for Human Genetic Data in Drug Development

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



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



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



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



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



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



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



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



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



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



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



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



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

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

Analyses of large genotyped and phenotyped datasets can provide valuable information for therapeutic development and research. Many sizable genetic research data sets have been used for this purpose, such as the UK Biobank, the Million Veterans Project, and the NIH&#8217;s All of Us.



What is unique about 23andMe&#8217;s approach is that we have data at a scale that significantly exceeds many other entities. The size of our data increases our ability to detect disease associations with a given genotype and identify individuals with unique genomic composition for participation in additional research opportunities.



Early results from a <a href="https://blog.23andme.com/articles/searching-for-unique-genes">pilot project 23andMe launched this year</a> inspired us to look deeper into our Research Cohort at the gene MAP3K15, where previous research found a loss of function variant that protects people against developing type 2 diabetes.



If someone has a loss of function variant, for example, the MAP3K15 loss of function variant, and they are healthy, it tells scientists that turning off that gene could be safe. Knowing that a loss of function variant is not deleterious is incredibly important for drug development. Understanding this helps not just with target validation but with potentially de-risking and safety concerns around developing therapeutics that might turn off the expression of that gene.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="703" height="443" src="http://35.88.189.111/wp-content/uploads/2024/01/image.png" alt="" class="wp-image-32464" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/01/image.png 703w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/01/image-300x189.png 300w" sizes="auto, (max-width: 703px) 100vw, 703px" /></figure>



<h2 class="wp-block-heading" id="h-unique-insights-into-map3k15">Unique Insights into MAP3K15</h2>



Our researchers wanted to see if the size of the 23andMe database could enable additional insight into the metabolic role of MAP3K15 that might not have been discoverable in other datasets. The findings from this work was recently published on the <a href="https://www.medrxiv.org/content/10.1101/2024.01.09.24301012v1">preprint server MedRxiv</a>.



For this study we performed various genetic analyses for MAP3K15 to see what we could learn from the &gt;11 million consented customers in the 23andMe Research Cohort. In addition to confirming the protective effect for diabetes, analysis of our database resulted in several new insights for MAP3K15 loss of function (LoF):



<ol class="wp-block-list">
<li>MAP3K15 LoF is associated with an increased risk of high blood pressure&nbsp;</li>



<li>MAP3K15 LoF is associated with a decreased risk of high cholesterol</li>



<li>Among individuals determined to be at a high genetic risk for type 2 diabetes, those who also have MAP3K15 LoF show a potential 4.5-year delay in the median age of disease onset compared to non-carriers</li>
</ol>



<h2 class="wp-block-heading" id="h-genetics-driven-recruitment">Genetics-driven Recruitment</h2>



We wanted to know if we could establish a recruitment capability to obtain clinical laboratory evidence for the new MAP3K15 findings from genetic analyses of the 23andMe database. Because we have a very, very large number of people who have consented to participate in this additional level of research, we could readily identify potential research participants of interest with the protective MAP3K15 loss of function variant.



In this study, we were particularly interested in clinical lab values related to participant blood pressure and high cholesterol in individuals with or without a particular loss of function variant in MAP3K15. To obtain these lab values and biobank blood samples from consented participants, we set up a research protocol to recruit participants nationwide to answer survey questions and participate in a blood draw. This protocol was reviewed and approved by an Institutional Review Board (an independent ethical and regulatory review board) to ensure protection for the rights and welfare of our study participants.



Results from this pilot study enabled us to find evidence supporting our database findings, including elevated systolic blood pressure, reduced cholesterol levels, and lower LDL/HDL ratio in 23andMe participants with the protective variant compared to controls without the variant.



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">Research Opportunities Based on Your Unreported Genetics

The participants in this study represent a group of our research participants who&#8217;ve gone through an additional layer of consent.

For this research, our research participants have opted-in to being contacted by our researchers about research opportunities based on genetic information not included in their 23andMe reports.

These research opportunities might be related to specific conditions for which we do not yet have a report. Those who agree to participate and who are contacted for specific studies may only learn about the condition being studied but not the specific variant.

Like all our research, participants must opt in to be included, and those currently participating can change their minds and then opt out at any time.

Learn more <a href="https://therapeutics.23andme.com/collaborations/">here</a>.</div>



<h2 class="wp-block-heading" id="h-dna-driven-discoveries">DNA-Driven Discoveries</h2>



This recruitment capability opens a whole host of capabilities for researchers. Dubbed &#8220;The DNA-Driven Discoveries Study,&#8221; this genetics-driven recruitment approach could potentially inform drug target safety concerns, improve patient selection and efficacy in clinical trials while also helping to identify hard-to-find drug targets, rare genetic variants and even reveal more about the underlying biology of certain conditions.



&#8220;I&#8217;m not aware of any other entity out there with this capability and scale,&#8221; said Jen Brady, Ph.D., a senior scientist in 23andMe&#8217;s Therapeutics division who helped lead the study. &#8220;We&#8217;re leveraging the discovery power of what is the world&#8217;s largest re-contactable genetic database. 



Our (DNA-Driven Discoveries) study allows 23andMe scientists to recontact consented individuals based on genetic variants they may have but do not know about. Contacting these individuals based on their genetics is a key capability for 23andMe. It could help inform drug discovery efforts for 23andMe and our collaborators, improve how we create genetic research hypotheses, and help us build an internal deeply-phenotyped biobank.&#8221;



<h2 class="wp-block-heading" id="h-next-steps">Next Steps</h2>



We believe the ability to identify, recruit, and characterize research participants based on genetics unknown to them is a critical capability for 23andMe to inform drug development and genetics research.



Future studies using this method could enable similar recruitment and study designs for other conditions. They could also potentially help in clinical trials as we determine a drug’s efficacy and potential toxicity, modeling control and treatment arms. It may also help recruit family members, which could increase power for studying, especially rare variants that might run in families. We may also use this genetic-driven research to test the validity or interpretation of some self-reported data from research participants.&nbsp;



These <a href="https://therapeutics.23andme.com/our-platform/">DNA-driven discoveries</a> will improve our important work and may lead to important insights into the treatment and diagnosis of disease.&nbsp;



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

The Power of Scale in Drug Development

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



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



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



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



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



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



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



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



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



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



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



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



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

Structure of Antibodies Plays a Role in Targeted Therapies

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



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



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



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



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



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



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



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



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

An Update on Clinical Trial for 23ME-00610

Scientists from 23andMe’s <a href="https://www.23andme.com/therapeutics/">Therapeutics</a> organization recently presented details on the study design of the company’s ongoing Phase 1 clinical trial for a potential new cancer treatment, an&nbsp; <a href="https://blog.23andme.com/articles/an-update-on-23andmes-clinical-trial-for-23me-00610-in-patients" target="_blank" rel="noreferrer noopener">immunotherapy antibody called 23ME-00610</a>. 



The details on the types of cancers to be included in an expansion phase of the company’s clinical trial were presented this month at the annual meeting of the Society for Immunotherapy of Cancer (SITC) in Boston.&nbsp;



The Phase 1 clinical trial is designed to assess the safety and blood levels of 23ME-00610 in patients with advanced solid tumors whose cancer has come back or continued to spread after having taken all available treatments. 



23ME-00610 is an antibody that targets a receptor called CD200R1 expressed on T-cells and myeloid cells, and may restore those cells’ ability to kill cancer cells in patients.&nbsp;



<h6 class="wp-block-heading" id="h-trials-in-progress">Trials in Progress</h6>



The details presented at SITC were in a “Trials-in-Progress” poster, and included the specific types of tumors that will be studied in this trial. Patients with certain kinds of cancer will be enrolled into the clinical trial in the coming months. 



23andMe is looking to enroll patients with clear cell renal cell carcinoma; epithelial ovarian, fallopian tube or primary peritoneal carcinoma; neuroendocrine cancers including small cell lung cancer; and microsatellite instability-high (MSI-H) or tumor mutational burden-high (TMB-H) cancers that have progressed on standard therapies.&nbsp;



<h6 class="wp-block-heading" id="h-a-phase-i-clinical-trial">A Phase I Clinical Trial</h6>



A Phase 1 clinical trial is meant to assess safety and identify a dose level and dosing frequency for newly developed drug candidates. 



Typically a Phase 1 clinical trial includes a small group of patients who receive the investigational drug. Following close safety monitoring and analysis of drug levels in patients, if the compound is deemed to be well-tolerated, a higher dose of the drug is administered, either within the same group or a separate group of patients. When an appropriate dose level and dosing frequency has been identified, additional patients are typically enrolled to better assess that dose level. 



The plan for this Phase 1 study is to enroll about 100 patients. 23andMe plans to present the results of this clinical trial at an upcoming scientific conference.&nbsp;



<h6 class="wp-block-heading" id="h-the-power-of-big-data">The Power of Big Data</h6>



23andMe has more than 13 million genotyped customers, 80 percent of whom have consented to participate in research. Scientists are able to study the aggregate, de-identified genetics of these millions of participants. 



Pairing this data alongside more than 4 billion self-reported health data points, our scientists use sophisticated analyses to identify potential drug targets. 23andMe has one of the largest research platforms for therapeutic discovery. To date, the 23andMe Therapeutics division has initiated more than <a href="https://www.23andme.com/therapeutics/pipeline/">50 therapeutic program</a>s, including 23ME-00610.&nbsp;



&nbsp;“Our hypothesis, backed by published research, is that drug targets based on human genetics are at least twice as likely to become successful medicines than those with no underlying human genetic evidence,&#8221; said Dr. Jennifer Low, Head of Therapeutics Development at 23andMe. “We hope that 23ME-00610 will ultimately show clinical benefit to patients with a number of types of cancer.”

23andMe’s First Clinical Trial of New Cancer Treatment

Listening to those with a rare disease, a common refrain is that they often feel isolated, unheard, and alone.
But they’re not alone.&nbsp;&nbsp;
<h6>Much to Learn</h6>
While each rare disease is by definition uncommon — affecting fewer than 200,000 people — there are more than 7,000 known rare diseases. There are more than 300 million people worldwide who have a rare disease. Yet because these rare diseases are unique and affect small groups of people, the conditions are difficult to study.&nbsp;
Disease research can sometimes be a numbers game, and research into rare diseases is often stymied as scientists struggle to gather enough individuals with the condition who are able to participate in their research. While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments.&nbsp;&nbsp;
<h6>Potential for Insight</h6>
23andMe hopes to change that. Part of our mission as a company is to focus our therapeutics efforts on conditions with unmet needs and to maximize our chances of discovering novel genetic insights to help in that search.&nbsp;
In the last few years, our researchers have discovered how powerful our unique research platform is for making important discoveries about these rare conditions. People with rare diseases are not limited by geography, and can easily participate in research if they choose, while our scientists can leverage online tools and data on a massive scale, to study a broad range of conditions.
“We have the potential of making genetic findings for several rare diseases for which there currently is very little known,” said John Matthews, Ph.D., M.D., and the Senior Clinical Development Fellow on 23andMe’s Therapeutics team.
<h6>23andMe’s Rare Disease Research Study</h6>
23andMe’s Rare Disease Research Study will start with a handful of rare diseases, recruiting individuals to participate in innovative genetic research around —<a href="https://www.23andme.com/systemic-sclerosis-study/"> systemic sclerosis</a> (a study we first started in 2021), ANCA-associated vasculitis, pemphigus vulgaris, and dermatomyositis.&nbsp;
<ul>
<li style="font-weight: 400;" aria-level="1">Systemic sclerosis causes the hardening of the body’s connective tissue.</li>
<li style="font-weight: 400;" aria-level="1">ANCA-associated vasculitis (AAV) is actually a group of autoimmune diseases that are characterized by inflammation of small vessels.&nbsp;</li>
<li style="font-weight: 400;" aria-level="1">Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.</li>
<li style="font-weight: 400;" aria-level="1">Dermatomyositis is an inflammatory disease marked by muscle weakness and a distinctive skin rash.</li>
</ul>
In addition to these four conditions, 23andMe will expand another existing rare disease study on <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">&nbsp;idiopathic pulmonary fibrosis</a>, which causes irreparable scarring of the lungs that progressively worsens lung function. The study now will broaden to include other types of lung fibrosis as part of this program.&nbsp;
The hope is that this work will lead to discoveries and insights into possible new treatments. We plan to slowly expand the number of conditions we study in the coming months.
In typical rare disease research, scientists have relied on very small cohorts of perhaps a few dozen individuals or studied members of the same family who all might share a rare condition. But that makes it very difficult to gain new insight into genetic variants that were previously unknown to be associated with these rare conditions.
<h6>A Revelation</h6>
In what at the time was believed to be the largest genetic study of rare diseases, 23andMe published research in 2021 explaining how the company is uniquely positioned to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a>&nbsp;
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists conduct genome-wide association studies on 33 different rare diseases. The 23andMe study is the first Genome-Wide Association Study (GWAS) ever done for a few of these rare conditions. The study identified new genetic associations for each. The research was a revelation. Finding these associations offers scientists a deeper understanding of the biological pathways for the conditions and offers the possibility for identifying potential treatments.
“It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals,” said 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D., who worked on the study. “Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected.”
You can learn more about 23andMe’s Rare Disease Study by following the links to the disease-specific landing pages below:
<ul>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/systemic-sclerosis/">Systemic sclerosis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/anca-associated-vasculitis/">ANCA-associated vasculitis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/">Pemphigus vulgaris</a></li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/dermatomyositis/">Dermatomyositis</a></li>
</ul>
<h6></h6>

23andMe Launches Rare Diseases Study

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

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

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

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

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

Postdoc Opportunities at 23andMe

Diseases are considered rare if they affect fewer than 200,000 in the United States, but collectively rare diseases — there are nearly 7,000 — are more common than we realize, affecting about 25 million Americans and more than 300 million people worldwide.<img loading="lazy" decoding="async" class="alignright wp-image-16566 size-medium" src="http://35.88.189.111/wp-content/uploads/2009/02/lung_xray-300x223.jpeg" alt="" width="300" height="223" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/lung_xray-300x223.jpeg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/lung_xray.jpeg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Because these are rare conditions finding enough research participants to study these conditions can make studying them immensely challenging for scientists. But the 23andMe research model is uniquely suited to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a> We’ve launched a series of studies on rare diseases like <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, and<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> idiopathic pulmonary fibrosis (IPF)</a>. Earlier this month we added one more to the list with a <a href="https://www.23andme.com/sarcoidosis-representation/">new study of sarcoidosis</a>. April also happens to be Sarcoidosis Month, and April 30th is National Sarcoidosis Day in the United States.
So, take a moment to learn a bit more about this little-known condition.
<h6>An Inflammatory Disease</h6>
Sarcoidosis (pronounced SAR-COY-DOE-SIS), is an inflammatory disease that mostly affects the lungs in people with the condition but can affect any organs in the body. 
The disease leads to the clumping together of inflammatory cells in different organs, which in turn can lead to scarring and organ dysfunction. While it impacts both men and women, and people of any ethnicity or age, it disproportionately affects people of African ancestry, particularly women, and people of Northern European ancestry. 
Early symptoms may include fatigue, swollen lymph nodes or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough or chest pain. When it affects the heart, the condition may result in irregular heart beat, or accelerated heart beat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision,
There currently is no cure and few approved treatments.
<h6>Searching for Treatments</h6>
23andMe’s study will look at genetic associations in what we hope will be the world’s largest study of this disease in African Americans. We hope the research identifies potential new treatments for sarcoidosis. Our efforts will involve recruiting people with the condition to participate in our research. That ensures that people of African ancestry are well-represented in the research. This is to ensure that any new potential treatments are effective for underrepresented populations.
In general, studying rare diseases is a challenge because patients are hard to find and recruit in large numbers. Simply finding enough people with one of these conditions who can participate is often the first hurdle for researchers. But 23andMe is uniquely positioned to do this work. We believe that by leveraging online tools and reaching out to individuals diagnosed with sarcoidosis we can accelerate the pace of research.
Just as with most other rare diseases, there is a strong genetic component to sarcoidosis. However, many of the genetic variants associated with the condition have not yet been identified. 
<h6>More</h6>
Learn more about 23andMe’s sarcoidosis study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a>.
Questions about the study? Contact us at <a href="mailto:sarcoidosis-representation@23andme.com">sarcoidosis-representation@23andme.com</a>.

23andMe Launches Sarcoidosis Study

By Bethann Hromatka
The human brain is hardwired to receive chemical signals from our environment. It primarily does this through receptors–proteins on the surfaces of cells that catch specific molecules when they pass by.
An interesting class of receptors is the mu-opioid receptors, so named because they influence responses to opiates (for instance morphine). These receptors are also involved in processing reward and dealing with stress.
<h6>Addiction Studies</h6>
A few years ago, researchers identified a SNP ( in the opioid receptor gene OPRM1) associated with <a title="SNPwatch: Evidence for Gene-Environment Interaction in Alcoholism" href="https://blog.23andme.com/articles/snpwatch-evidence-for-gene-environment-interaction-in-alcoholism/">alcohol addiction</a>. This SNP also appears to be involved in processing responses to physical and emotional pain. In addition, studies have linked to heroin addiction and responses to Naltrexone, a medication used to treat alcohol dependence and heroin addiction.
A <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0024203" target="_blank" rel="noopener">study</a> published this month suggests that also influences learning through positive reinforcement. The researchers behind this study tested if individuals with different versions of were more or less likely to continue choosing the right answer in a video game if they received reinforcement (in the form of a small cash prize) for correct answers.
<h6>Positive Reinforcement</h6>
The authors found that positive reinforcement prompted individuals with specific genetic variant tended to continue to choose the right answer over time. That is, positive reinforcement motivated these individuals to learn. In contrast, individuals with at another version of this marker were less motivated by positive feedback – these participants did not continue to choose the right answer over time.
In general, giving a child ice cream for good performance on a spelling bee will prompt him/her to continue to learn.  This study suggests that such responses are influenced by genetics. This report also suggests that the same version of is simultaneously involved in reinforcement learning. Many consider this to be a beneficial behavior, and alcohol addiction, an unhealthy behavior. Studies like this one may eventually help elucidate the pathways that govern both normal human conduct and complex disorders.

Genetic Variation Influences How We Respond to Reinforcement

Some of the same genes associated with cannabis use are also associated with risk-taking personality types and psychiatric conditions like schizophrenia, according to a new large-scale genetic study.
&nbsp;
The <a href="https://www.nature.com/articles/s41593-018-0206-1">study</a>, conducted by a team of scientists who are part of the <a href="https://www.ru.nl/bsi/research/group-pages/substance-use-addiction-food-saf/vm-saf/genetics/international-cannabis-consortium-icc/">International Cannabis Consortium</a>, is the largest genome wide association study to date that looks at the use of cannabis.
&nbsp;
The researchers found that people who are at a higher genetic risk for schizophrenia are also more likely to use cannabis. The study also identified 35 different genes associated with cannabis use with the strongest associations in the gene CADM2.
&nbsp;
“CADM2 has already been associated with risky behaviour, personality and alcohol use,” said Jacqueline Vink of <a href="https://www.ru.nl/bsi/">Radboud University</a>, and the study’s lead author.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/08/Cannabis-use-1024x683.jpg" alt="" class="aligncenter size-large wp-image-26491" width="1024" height="683" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/Cannabis-use-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/Cannabis-use-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/Cannabis-use-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/Cannabis-use-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/Cannabis-use-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />For this study, the researchers were able to look across more than a million genetic variants and found a genetic overlap between cannabis use and the use of tobacco and the use of alcohol. The researchers also saw an overlap between a higher likelihood for the use of cannabis and an increased risk for schizophrenia. There was a similar overlap between cannabis use and personality types that were prone to more <a href="https://blog.23andme.com/23andme-research/genetics-associations-personality-traits/">risky behaviour</a> or were more extraverted. This means that genetic variants impacting cannabis use partially impact other psychological or psychiatric features as well, according to the researchers.
&nbsp;
For this study, the researchers used data primarily from the UK Biobank, as well as association data from 23andMe customers who consented to participate in research. On top of that data the researchers used data from individuals in 16 other smaller study cohorts. In all the study included data from more than 180,000 people. In all the researchers found 35 genes associated with cannabis use, offering more insight into the genetic influences on personality types. The team of researchers was lead by Prof. Vink of Radboud University, and included contributions from researchers at QIMR Berghofer Medical Research Institute in Australia, as well as scientists at Virginia Commonwealth University, and 17 different research groups from Europe, North America and Australia.
The study showed that the genes increasing the risk of cannabis use partially increase the risk of schizophrenia as well. The researchers used an analysis technique called &#8220;Mendelian randomisation&#8221; to show a causal relationship between a genetic predisposition for schizophrenia and an increased risk of cannabis use. This may indicate that people with schizophrenia use cannabis as a form of self-medication. However, the researchers cannot exclude a reverse cause-and-effect relationship, meaning that a genetic predisposition for cannabis could contribute to the risk of schizophrenia.
&nbsp;
The team that worked on this study are already starting to explore which genes play a role in the frequency of cannabis use and the amount of cannabis used.
&nbsp;
.

Scientists Identify Genes associated with Cannabis Use

Up until recently, genetic research on personality has yielded few results, but that has changed with the availability of massive datasets for <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/iStock_000015521781Small-300x199.jpg" alt="" class="alignright wp-image-21718 size-medium" width="300" height="199" />genome-wide association studies.
In a series of papers published since mid-2016, scientists have established promising new findings that rely on vast amounts of data from the likes of the the<a href="http://www.ukbiobank.ac.uk/"> UK Biobank</a>, the international<a href="http://www.med.unc.edu/pgc"> Psychiatric Genomics Consortium</a>, and 23andMe.
By conducting genome wide association studies — or meta-analyses — with data from hundreds of thousands of people, researchers have found genetic associations where they could not before. In the last year alone, they’ve found associations for such traits as <a href="https://www.nature.com/nature/journal/v533/n7604/full/nature17671.html">educational attainment,</a> depressive symptoms, <a href="https://www.nature.com/ng/journal/v48/n6/full/ng.3552.html">neuroticism</a>, and <a href="https://www.nature.com/ng/journal/v48/n6/full/ng.3551.html?foxtrotcallback=true">risk-taking behavior</a>. 
The success on these fronts has opened up the hunt for more genetic signals associated with psychological and behavioral traits. Scientists are also doubling back on the research over the last year attempting to replicate the findings — when replication was not conducted in the initial study — to ensure the associations are valid. 
<h5>The Big Five</h5>
In July, scientists from St. Louis University, the University of Cambridge and 23andMe zeroed in variants in two genes, CADM2 and MSRA, found to be associated with personality, specifically risk-taking behavior and irritability. The gene CADM2 is important in organizing the synapses in the brain, while MSRA encodes a family of enzymes in the body.
By going back and conducting a replication study, the researchers were also able to broaden the range of traits they looked at, and include additional personality traits beyond the so-called “Big Five” —neuroticism, extraversion, openness, agreeableness, and conscientiousness. 
For this <a href="https://www.sciencedirect.com/science/article/pii/S2405844017317346?_rdoc=1&#038;_fmt=high&#038;_origin=gateway&#038;_docanchor=&#038;md5=b8429449ccfc9c30159a5f9aeaa92ffb">replication study</a>, researchers included 19 additional measures to more fully describe the Big Five, adding in data for such things as anxiety, risk-taking, order, altruism, and self-discipline.
The study replicated the associations with a variant in the CADM2 gene for risk-taking, agreeableness, and extraversion. The researchers were also able to replicate the variant in the MSRA gene associated with irritability.
While both exciting and promising, the new findings are also tempered by the hurdles faced by genetic research in general. Just finding the associations is not enough — researchers are still trying to learn more about the genetic architecture and biological mechanisms underlying these complex traits. Also, these associations often have a small effect on the traits. But the findings suggest that with even larger sized studies may offer more insight.
You can read the full replication paper <a href="https://www.sciencedirect.com/science/article/pii/S2405844017317346?_rdoc=1&#038;_fmt=high&#038;_origin=gateway&#038;_docanchor=&#038;md5=b8429449ccfc9c30159a5f9aeaa92ffb">here</a>.

Research Confirms Genetic Associations For Personality Traits

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

The role of genetics in personality and schizophrenia

A massive new study that included data from more than a million people suggests that genetics may nudge some individuals toward taking risks like smoking, drinking, and speeding.<img loading="lazy" decoding="async" class="alignright wp-image-26803 size-medium" title="risk taking, risky behavior, parachute, skydiving" src="https://blog-api.23andme.com/wp-content/uploads/2019/01/riskparachute-300x200.jpg" alt="" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute-1180x787.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/01/riskparachute.jpg 1254w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Conducted by an international team of scientists led by researchers from the Social Science Genetic Association Consortium (SSGAC), the study published today in the journal <a href="http://dx.doi.org/10.1038/s41588-018-0309-3">Nature Genetics</a> identified 124 genetic variants associated with a person&#8217;s willingness for taking risks. The study looked at a person’s propensity for “risky behaviors” like smoking, drinking, driving fast, and having multiple sexual partners.
“Risk tolerance is a fundamental parameter in the behavioral sciences and has been widely studied in social science genetics,” said Jonathan Beauchamp of the SSGAC, a lead researcher on this paper and an assistant professor at the University of Toronto. “But until now few genetic variants had been robustly linked to risk tolerance. The study is an effort to get a fuller picture of the genetic factors involved and is a first step towards understanding how those factors interact with environmental factors to influence risk-taking.”

<h2>The Role of Genetics</h2>
The focus of the new research looks at genetic influence, but researchers note that environmental, cultural and demographic circumstances play a much more significant role in a person’s tolerance for risk. The study, however, illustrates that genetics has a small but important role. The genetic variants identified account for just a fraction of the difference in risk tolerance observed between groups of people. By using a “polygenetic” score the researchers were able to capture the combined effect of a million genetic variants. Together these variants allowed the reserachers to estimate that genetics accounts for about 1.6 percent of the variation in risk tolerance across individuals.
The genetic associations point to the role of genes that regulate neurotransmitters such as glutamate and GABA, which are chemical messengers that both stimulate and calm the brain.
This study is significant on many levels. For one, risk tolerance is among the most intensively studied traits in social science, because it plays a role in predicting economic and social outcomes as well as personality measures. This study may also contribute to the debate around whether having a risk tolerance in one area, say a willingness to bungee jump, corresponds with taking a risk in another realm, like taking a risk financially. The researchers found evidence of shared genetic influences across risk tolerance and risky behaviors.
“Genetic variants associated with more risk tolerance tend to also be associated with more speeding, drinking, smoking, and cannabis consumption, and with riskier investments and sexual behavior,” Beauchamp said.
<h2>Study Size</h2>
The study is also significant for its size. It dwarfs past genetic research on risk tolerance and risky behavior that relied on data from perhaps a few hundred or a few thousand individuals. In this work, the researchers look at data from more than a million people including data from about 500,000<a href="https://research.23andme.com/"> 23andMe</a> customers who consented to participate in research. An almost equally large set of data from the<a href="https://www.ukbiobank.ac.uk/"> UK Biobank</a> was also included in the study. The researchers then replicated their findings using data from about ten other small studies. The massive sample size for this study — orders of magnitude larger than previous genetic studies on risk tolerance — allowed researchers to see associations they were not able to see before.
“The study illustrates the power of big data and the potential of the research model pioneered by 23andMe,” said David Hinds, Ph.D., a research fellow and statistical geneticist at 23andMe. “AT the same time it is important to point out that these results do not explain much of the variation in risk tolerance. More work is needed.&#8221;
23andMe data has helped this same group of researchers, the Social Science Genetic Association Genetic Consortium, to complete a series of similarly large studies into such things as<a href="https://www.nature.com/articles/s41588-018-0147-3.epdf?author_access_token=mOl3bhpk8c_xDeys2HqzLtRgN0jAjWel9jnR3ZoTv0Nqad92v-7y1ilkmPqR7KMJHDW55vpz34OKXMkmhVwlgvPoaqODhnDKkVq1UFW2F8gQupoTN2ZHfreXqFs1jFbMOR4l0MzK7mNxPA9U6Agilg%3D%3D"> educational attainment</a>,<a href="https://www.nature.com/articles/ng.3552"> depression and subjective well-being</a>.

The Genetics of Taking Risks

Spit, iHeartRadio’s newest Podcast with 23andMe is among the top podcasts for a reason.
<div id="attachment_26513" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26513" src="https://blog-api.23andme.com/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-300x200.jpg" alt="" class="wp-image-26513 size-medium" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/217_WesandAlex_JohnLegend_7_17_2018-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Anne Wojicicki, John Legend and Baratunde Thurston in conversation for the podcast Spit.</div>
Hosted by the writer, comedian and cultural critic,<a href="http://baratunde.com/"> Baratunde Thurston</a>, the four episodes so far offer unscripted conversations with an eclectic mix of artists, scientists, and thinkers, on how DNA testing is changing perspectives about identity, family, and race.
Listening to Spit feels a bit like eavesdropping on frank intimate conversations. Whether it’s<a href="https://www.johnlegend.com/"> John Legend</a> talking with 23andMe CEO and co-founder Anne Wojcicki about his ancestors who were slaves, or<a href="https://falloutboy.com/"> Fall Out Bo</a>y singer<a href="https://www.instagram.com/petewentz/"> Pete Wentz</a> speaking with Dr.<a href="http://www.genomes2people.org/about/director/"> Robert Green</a> of the Broad Institute, whether genetics is deterministic, the themes are wide-ranging and fascinating.
“Genetics is wild and interesting,” Wentz said during his free-flowing conversation with Dr. Green.
<div id="attachment_26512" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26512" src="https://blog-api.23andme.com/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-300x200.jpg" alt="" class="wp-image-26512 size-medium" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663-1180x787.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/KatherineTyler_PeteWentz_Spit_2018-3663.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />Pete Wentz talking with Baratunde Thurston for the Podcast &#8211; Spit 2018. Photo: Katherine Tyler, for iHeart Radio</div>
Growing up in Middle America, Wentz, whose family originally came from Jamaica and has mixed Portuguese and Jewish roots, said he grew up feeling like “a mutt.” Learning more about his DNA would offer him a chance to explore his family’s origins.
“Since we have this technology why wouldn’t you want to find out?” Wentz said.
As a new parent, Wentz also was curious about the health side of testing and what a person could learn about risks or traits that they might pass on to their children.
People are empowered by the notion that they can learn about risk, said Dr. Green. But he added that there is a certain irony about genetic testing in that many go into this believing that genetics is somehow deterministic, but it’s not.
From his research, Green said one of the biggest comprehension hurdles for people in thinking about genetics is what risk and probability mean.
“That’s the change I see,” he said. “Removing the thinking that ‘you will get this’ to ‘you have a slightly higher or lower probability of getting this.’”
These kinds of surprises popped up in each of the podcasts.
<div id="attachment_26523" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26523" src="https://blog-api.23andme.com/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-300x200.jpg" alt="" class="size-medium wp-image-26523" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/melissa_etheridge_podcast_20180620_077-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Musician Melissa Etheridge talking about family during Spit podcast. Photo: © Matthew Eisman for iHeartMedia. All Rights Reserved</div>
During the conversation between singer Melissa Etheridge, who has several adopted children, and filmmaker<a href="https://www.thankyouforcomingmovie.com/"> Sarah Lamm</a>, who just completed a film following her search for her sperm donor father, the two talked about family, and what that means.
&#8220;I think we&#8217;re going through this on a worldwide thing, this sort of blood idea, of blood and family, and mine and my tribe, and how that&#8217;s being blown apart by stuff like this,” said Etheridge. “The truth is family is family. You can make family. Family is love, that&#8217;s the bond we have. Blood is a whole other story. It&#8217;s interesting, it&#8217;s great, but it&#8217;s a whole thing.&#8221;
DNA testing can trigger all sorts of conversations, said Tracy Keim, 23andMe’s vice president of consumer marketing and brand.
“Topics like family, identity, race, and how we’re connected with the rest of the world are all influenced by DNA,” she said.
Last month we wrote about the<a href="https://blog.23andme.com/23andme-research/a-new-survey-on-attitudes-about-race-and-genetics/"> interesting conversation on race</a> between the singer<a href="https://www.wyclef.com/"> Wyclef Jean</a> and Northwestern University professor<a href="https://www.polisci.northwestern.edu/people/core-faculty/alvin-tillery.html"> Alvin Tillery</a>. Tillery shared his own harrowing story of surviving a lynching attempt as a 9 year-old in New Jersey in the 1980s. Working with 23andMe on<a href="https://blog.23andme.com/23andme-research/a-new-survey-on-attitudes-about-race-and-genetics/"> a recent survey</a>, Tillery is looking specifically at how DNA testing is impacting people’s perceptions of race. One f
<div id="attachment_26514" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26514" src="https://blog-api.23andme.com/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-300x200.jpg" alt="" class="wp-image-26514 size-medium" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-768x512.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843-1180x787.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/09/RachelKaplan_23andMeWyclefJean2018-5843.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />Baratunde Thurston (left), Wyclef Jean and Al Tillery. Photo: Rachel Kaplan</div>inding from the study is that people have a much more nuanced understanding of race than Tillery thought they would.
Wyclef’s takeaway was that the science of DNA could help bring people together by emphasizing how much they have in common — humans are 99.5 percent similar genetically.
“We have so much more in common than you could even imagine,” he said.
We encourage you to have a listen to iHeartRadio’s Spit, with 23andMe. Below are the four episodes so far. There will be more to come. 
<ul>
<li>Episode 1: How Are We All Related, with John Legend and Anne Wojcicki</li>
<li>Episode 2: Does Race Really Exist Or Did We Create It, with Wyclef Jean and Alvin Tillery</li>
<li>Episode 3: What Does It Mean to Be “Family,” with Melissa Etheridge and Sara Lamm</li>
<li>Episode 4: How can science change the stories we’ve grown up with? Exploring Identity, with Pete Wentz and Dr. Green. </li>
</ul>

The Podcast Spit

One of the few issues a majority of Americans agree on is that race relations are not getting better — they are getting worse, according to a new survey on attitudes about race and genetics done in a collaboration between researchers at 23andMe and Northwestern. But the survey conducted by <a href="https://www.csdd.northwestern.edu/">Center for the Study of Diversity and Democracy</a> also captured a promising transformation in thinking about race — a change possibly influenced by young people who no longer identify in binary terms, as well as the advent of at-home DNA testing.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/08/racial-identity-300x300.jpg" alt="" class="alignright size-medium wp-image-26463" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-768x767.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-880x880.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-372x372.jpg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-574x574.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity-980x980.jpg 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/08/racial-identity.jpg 1025w" sizes="auto, (max-width: 300px) 100vw, 300px" />
“We&#8217;re a hell of a lot better off than I thought we were,” said<a href="https://www.polisci.northwestern.edu/people/core-faculty/alvin-tillery.html"> Al Tillery</a>, Jr, Ph.D., an associate professor and associate chair of Northwestern University’s department of political science who led the study. “What I expected &#8230; is that about two-thirds of Americans would believe that race and genetics are tightly bound together. We actually found the opposite. Only about a third of Americans nationally see a strong connection.”
Almost half of Americans said that while your genetics plays a role in determining racial identity, it doesn’t determine it, according to the survey.
The science also supports this nuanced understanding of racial identity. In fact, what we think of as race is largely<a href="https://www.scientificamerican.com/article/race-is-a-social-construct-scientists-argue/"> a “social construct,”</a> not a biological one.
For Prof. Tillery, it was encouraging to see that Americans have absorbed this concept, especially during these divisive times. What the science shows is that genetic differences are not significant enough to support biological definitions of racial categories. That doesn’t mean there are not genetic variations that reflect different ancestral groups, but what people think about when they think about race usually focuses on skin color, which, although heavily influenced by genetics, is controlled by a tiny fraction of our genome. Any two individuals are 99.5 percent genetically similar. While those minuscule differences mark what makes us each unique, focusing on them exclusively may exacerbate social tensions.
Prof. Tillery’s comments on the new survey were part of a broader discussion about race that played out during the second episode of a new iHeart radio podcast “<a href="https://itunes.apple.com/us/podcast/id1422827494">Spit — Conversations on DNA</a>.”
Hosted by the comedian and writer<a href="http://baratunde.com/"> Baratunde Thurston</a>, the podcasts will be discussions with some of the most influential thinkers on the impact of so many people using genetic testing to learn about themselves. Joining Professor Tillery on this second episode was the musician<a href="https://www.wyclef.com/"> Wyclef Jean</a>. In the first episode, 23andMe’s CEO and Co-Founder Anne Wojiciki joined Baratunde for a wide-ranging and entertaining conversation about genetics on episode one.
But the discussions with Wyclef and Prof Tillery focused on this new survey by Northwestern, a survey that marks new territory. Polls measuring attitudes about race relations, an already contentious subject, are nothing new, but this one is perhaps the first to look at attitudes towards race and genetics. Discussions of race and genetics have a long and troublesome history. One in which the science has been misused for racist purposes. 
“I give (23andMe) a lot of credit for just wanting to know,” said Prof. Tillery “They came to me and said, ‘You know about race relations, how can we design a study where we can see what Americans think about the relationship between genetics and race?’”
And the point wasn’t just to look at race and genetics, but also whether testing might be making matters better or worse. Some critics of DNA testing argue that it<a href="https://nationalpost.com/news/world/are-genetic-ancestry-tests-reinforcing-wrongheaded-ideas-of-race"> reinforces perceptions of racial differences</a>. They point to something called “reification theory,” a concept that in this context means DNA testing solidifies people’s definitions of racial categories, making them seem more concrete. But there isn’t much evidence to support this. It’s possible that testing does the opposite by reminding people of how mixed we all are, but the evidence for either theory is not there yet. 23andMe hopes to do follow-up surveys to learn more.
“I’m excited by how the results of this survey can kick start a frank conversation about genetics and racial identity,” said Joanna Mountain, 23andMe’s Senior Director of Research, who was also involved in designing the study. 
During the podcast, Baratunde got beyond what was in the study and talked with Wyclef about why, despite any two people being 99.5 percent genetically similar, many of us “spend a lot of time focusing on that 0.5 percent difference.”
“(I)t&#8217;s very interesting just listening to the overall statistics,” Wyclef said. “I would say that traveling probably half of the globe, I think it&#8217;s something that everyone should know. We have so much more in common than you could even imagine.”
Listen to this whole riveting discussion on episode two of <a href="https://itunes.apple.com/us/podcast/id1422827494">“Spit — Conversations on DNA”</a> or check out other episodes as they come online. We will be sharing more on this new Race and Genetics Survey in the coming weeks.
&nbsp;

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