Welcome to the 23andMe Museum &#8211; home to exhibits where some of our customers share what they discovered thanks to 23andMe, from ancestry to health to wellness. 



Take a look around the museum and see what you might be able to learn with 23andMe, too.



<iframe loading="lazy" src="https://player.adventr.io/index.html?link=https%3A%2F%2Fd252srr1zuysk4.cloudfront.net%2Fclients%2F4475%2F13254%2Fpublished%2F4475-23andme-museum-06127507.data&#038;initial=v3-openingbuilding-ygoo" width="6400px" height="360px" frameborder="0" scrolling="no" allowfullscreen allow="autoplay; fullscreen; clipboard-read; clipboard-write; encrypted-media; geolocation; microphone; web-share"></iframe>



<h6 class="wp-block-heading">Learn More</h6>



Find out more about what 23andMe has to offer and the differences between our services <a href="https://www.23andme.com/compare-dna-tests/">here</a>.  



<h6 class="wp-block-heading" id="h-share-your-story">Share Your Story</h6>



Have your own 23andMe story to share? You can submit it <a href="https://www.23andme.com/stories/#form">here</a>!

An image of the opening card for the 23andMe Museum interactive video

Explore the Virtual 23andMe Museum

Have you ever wondered how to get started with 23andMe? 



Check out this interactive game and learn just how easy it is to submit your DNA sample. From selecting your kit to providing your saliva sample and sending it off to our labs to be processed.



<h6 class="wp-block-heading" id="h-it-s-so-easy">It’s so easy!</h6>



<div style="padding-bottom: 56.25%; position: relative; height: 0; overflow: hidden; max-width: 100%;"><iframe src="https://player.adventr.io/index.html?link=https%3A%2F%2Fd252srr1zuysk4.cloudfront.net%2Fclients%2F4475%2F12895%2Fpublished%2F4475-it-s-so-easy-23andme-interactive-game-60365084.data&#038;initial=v2-10-opening-j9hc" frameborder="0" scrolling="no" allowfullscreen="" allow="autoplay; fullscreen; clipboard-read; clipboard-write; encrypted-media; geolocation; microphone" style="position: absolute; top: 0; left: 0; width: 100%; height: 100%;"></iframe></div>

An image of video for 23andMe it's so easy, that is an interactive game

23andMe, It’s So Easy

In the interest of clarity and transparency, 23andMe has made some improvements to its <a href="https://www.23andme.com/legal/privacy/">Privacy pages</a>. We’re really excited to share the details of the changes in the Privacy Statement in particular. 
We’ve simplified the language within our Privacy Statement, Terms of Service, and other legal documents with the goal of making them easier to understand and more accessible. 
These improvements don’t change the substance of our Privacy Statement (or Terms of Service); instead, they simplify how we communicate the ways in which your data is stored, used, and protected at 23andMe, or how you can use the Services. We encourage you to take a look, but below is a short overview of some highlights.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="524" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1024x524.jpg" alt="" class="wp-image-29797" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1024x524.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-300x154.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-768x393.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-880x451.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide-1180x604.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Privacy-Feature-Image-Wide.jpg 1562w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>What You’ll Find</h6>
The new Privacy Statement <a href="https://www.23andme.com/privacy/">landing page</a> offers a hub from which it is easy to quickly find and navigate to specific areas of privacy, whether you want to learn how 23andMe handles <a href="https://www.23andme.com/about/cookies/">cookies</a> or <a href="https://www.23andme.com/about/biobanking/">biobanking</a>, or how we comply with <a href="https://www.23andme.com/about/california-privacy/">California consumer privacy laws</a>.
The Privacy pages also highlight some of the privacy-related choices a customer can make and what each of those choices means. For example, we explain what choices you have regarding the storage of your biological sample, participation in features like DNA Relatives, or participation in 23andMe’s groundbreaking Research program.
Those decisions are all up to the customer (you!). That’s because transparency and choice are the cornerstones of our privacy commitment to you.
<h6>Going Long or Going Deep</h6>
Some of us want to spend a long time and read through everything, while others just want the highlights. These new pages honor both of those choices.
Each section has a short and clear overview and, where relevant, links to full policies or documents that contain more detail. We’ve also broken up the topics in the left-hand navigation bar into subjects we believe customers care most about, such as the types of data we collect, who we share it with, or what it means to consent to Research. 
And each page is designed to make it visually easier to find things, including noting where to go to change your privacy settings or delete your account entirely if that’s what you want to do.
&nbsp;

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="380" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1024x380.jpg" alt="" class="wp-image-29798" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1024x380.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-300x111.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-768x285.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-880x327.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530-1180x438.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/06/Two-Factor-Privacy-Settings-e1654527633530.jpg 1556w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Defining Certain Words</h6>
Simplifying language is important and we did a lot of that in creating these new pages, but some privacy-related terms are still not words we use every day.
That’s why we’ve added explanations about different terms with visuals.
So, when we mention “Personal Information,” we explain what it means in the context of privacy. Personal Information refers to data that personally identifies you. And we explain the difference between “individual-level data” versus “de-identified data” in writing and visuals. We also explain what  “aggregate information” means in the same way. 
<h6>Part of Our DNA</h6>
At 23andMe, privacy is in our DNA. It’s part of everything we do. These updates are meant to make it easier to understand and learn about how we protect and secure our customers&#8217; data every day.
Find out more <a href="https://www.23andme.com/privacy/">here</a>.

An image of a lock a computer, DNA and a mobile phone representing security protections.

Privacy Simplified

Starting this week, our premium annual membership service, 23andMe+ Premium, will be available widely to consumers in the UK and Canada who are interested in exploring a little deeper into what their DNA says about their health and finding ways to research their ancestry faster and more efficiently. 
Previously 23andMe+ Premium had been available in the UK and Canada only to existing Health + Ancestry Service customers on our V5 chip.  As in the US, consumers in the UK and Canada can now purchase a bundle that includes our Health + Ancestry Service with a 1-year prepaid 23andMe+ Premium membership.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="816" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-1024x816.png" alt="" class="wp-image-29583" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-1024x816.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-300x239.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-768x612.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864-880x702.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/Plus-Images-e1646159287864.png 1070w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Premium Content</h6>
In addition to the more than 150 reports Health + Ancestry Service customers already receive, 23andMe+ Premium membership offers members exclusive access to additional premium reports and features delivered throughout the year. These additional benefits give members a way to go deeper into their health.
This premium content includes Pharmacogenetics reports,* which can help you learn about how your DNA may impact the way your body processes certain medications; genetic reports Powered by 23andMe Research, which can provide insight into  your likelihood of developing conditions like high blood pressure, atrial fibrillation, and migraines; as well as enhanced ancestry features including advanced filtering and access to more DNA relatives.

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="1024" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1024x1024.png" alt="" class="wp-image-29650" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1024x1024.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-300x300.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-768x768.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-880x880.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-1180x1180.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-271x271.png 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-372x372.png 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-574x574.png 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1-980x980.png 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/03/UK-23andMe-ancestry-feature-1.png 1500w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
	
<h6>Find Out More</h6>
Existing Health + Ancestry Service customers on our V5 chip can join 23andMe+ Premium membership for an annual price of $39 in Canada or £19 in the UK.
Not yet a customer?
Find out more about discounted 23andMe+ Premium membership Bundle pricing <a href="https://www.23andme.com/en-ca/compare-dna-tests/">here</a> or customers in Canada or <a href="https://www.23andme.com/en-gb/compare-dna-tests/">here</a> for those in the UK.
With more genetic reports, more health insights, and more features, we hope 23andMe+ Premium gives individuals the choice to help them discover even more about themselves to keep fueling their health journeys. Health is in our DNA.
<hr />
*The 23andMe PGS test uses qualitative genotyping to detect 6 variants in 3 genes in the genomic DNA of adults from saliva for the purpose of reporting and interpreting information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic. Results should be confirmed in a clinical setting with independent genetic testing before taking any medical action.  Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For a complete list of the 6 variants tested, visit <a href="https://permalinks.23andme.com/pdf/pgt_product_info_page_21jan2020.pdf">Pharmacogenetics Important Test Information</a>.

Going Deeper with 23andMe+ Premium 

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

Powerful New Tool Opens Lung Cancer Data for Research Breakthroughs

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



Watch the Highlights: 



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



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



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



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



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



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



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



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



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



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



 #HealthHuddleLIVE #GeneticHealth #CommunityWellness

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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

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

Can You Upload DNA Data to 23andMe? 

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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
</div>



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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
</div>



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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
</div>



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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>



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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



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



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



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



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



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



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



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



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



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



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



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



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

A Big Step Forward for Patient Safety

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

As many as one in 10 women have endometriosis, but diagnosing it can take up to a decade or more. Dive into the science, and learn a bit about a new 23andMe Endometriosis report that looks at the genetic likelihood of developing this painful condition.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="612" height="252" src="http://35.88.189.111/wp-content/uploads/2025/09/endometriosis_hero-1.jpg" alt="" class="wp-image-34227" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/endometriosis_hero-1.jpg 612w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/endometriosis_hero-1-300x124.jpg 300w" sizes="auto, (max-width: 612px) 100vw, 612px" /></figure>



Have you ever been told your debilitating period pain is &#8220;normal&#8221;? Do you find yourself planning your life around your cycle, canceling plans, or missing work or school due to pain, heavy bleeding, or exhaustion? If so, you&#8217;re not alone; these symptoms could point to endometriosis, a common, yet often misunderstood, condition.



For those with endometriosis, tissue similar to the lining of the uterus grows in other places, like the ovaries, fallopian tubes, or even the bowel and bladder. This can lead to severe pain, heavy periods, and in some cases, may make it harder to become pregnant (between 30–50% of women with endometriosis experience infertility).



If this sounds familiar, it’s important to know that your pain is real and more common than many people think. Endometriosis affects as many as 10% of women in the U.S. Despite this, the journey to a diagnosis can be frustratingly long, sometimes <a href="https://pubmed.ncbi.nlm.nih.gov/39373298/" target="_blank" rel="noreferrer noopener">taking up to 12 years</a>. This delay often happens because symptoms are dismissed as &#8220;just a bad period.&#8221;



To support awareness and help people understand their genetic predisposition to endometriosis, we’ve launched the new Endometriosis* report for female <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ and <a href="https://www.23andme.com/total-health/" target="_blank" rel="noreferrer noopener">Total Health</a>™ members.



<h2 class="wp-block-heading" id="h-what-causes-endometriosis">What causes endometriosis?</h2>



While the exact cause isn&#8217;t known, several factors can increase your likelihood of developing endometriosis:



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" width="612" height="720" src="http://35.88.189.111/wp-content/uploads/2025/09/Group-125628.png" alt="" class="wp-image-34211" style="width:259px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Group-125628.png 612w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Group-125628-255x300.png 255w" sizes="auto, (max-width: 612px) 100vw, 612px" /></figure>



<ul class="wp-block-list">
<li>Age: It most often affects menstruating people and is frequently diagnosed in the 30s and 40s.</li>



<li>Family history: Having a family member with endometriosis increases risk.</li>



<li>Reproductive history: Starting menstruation at a young age, experiencing menopause later in life, and having frequent or heavy periods (short cycles or bleeding lasting more than 7 days) can all increase chances of developing the condition.</li>
</ul>



These factors are associated with a higher risk. On the other hand, having been pregnant or breastfeeding may reduce risk.



<h3 class="wp-block-heading" id="h-the-genetic-connection">The genetic connection</h3>



Endometriosis is what’s known as a <a href="https://www.genome.gov/genetics-glossary/Polygenic-Trait" target="_blank" rel="noreferrer noopener">polygenic</a> condition — meaning that many different genetic variants in many different genes can influence a person’s chances of developing it. In fact, <a href="https://pubmed.ncbi.nlm.nih.gov/26209831/" target="_blank" rel="noreferrer noopener">research suggests</a> that genetics may explain nearly half of the differences in who develops endometriosis across a population.



In 2023, 23andMe collaborated with researchers at Oxford in what was at the time the largest study on <a href="https://blog.23andme.com/articles/largest-genetic-study-to-date-links-endometriosis-with-chronic-pain" target="_blank" rel="noreferrer noopener">endometriosis and its association with chronic pain</a>. Now, to further understand the genetics of this condition, researchers at 23andMe looked at genetic and self-reported data from more than 1.5 million consented research participants. Using this information, they created a Polygenic Risk Score (PRS) — a model that considers thousands of genetic variants to estimate a person’s likelihood of developing endometriosis.



However, this model did not perform as accurately for 23andMe customers with Black or African American ancestry. Due to this limitation, we cannot provide a result for the Endometriosis report to those customers at this time. This is an important reminder that genetics research has historically underrepresented many communities. With continued research and broader participation, we hope to improve this work and reduce these disparities in the future.



<h2 class="wp-block-heading" id="h-what-you-can-do-about-it">What you can do about it</h2>



While the road to getting a diagnosis and managing endometriosis can be long and frustrating, there are proactive steps you can take on your journey to getting answers and feeling better.



<h3 class="wp-block-heading" id="h-advocate-for-yourself">Advocate for yourself</h3>



Track Your Symptoms. Before you see a doctor, consider starting a symptom diary. Being specific can make a big difference. Every day, note:



<ul class="wp-block-list">
<li>Pain: On a scale of 1–10, where is the pain, and what does it feel like (sharp, dull, cramping)?</li>



<li>Timing: When during your cycle do you feel symptoms? (During your period, during ovulation, all month long?)</li>



<li>Bleeding: How heavy is your flow? Are you passing clots?</li>



<li>Other Symptoms: Note any bloating, painful bowel movements, pain with sex, or fatigue.</li>



<li>Impact: How do these symptoms affect your daily life? (e.g., &#8220;Missed two days of work,&#8221; &#8220;Couldn&#8217;t exercise,&#8221; &#8220;Had to leave the party early.&#8221;)</li>
</ul>



Connect with a Doctor. Armed with your symptom diary, make an appointment with a healthcare provider.



<ul class="wp-block-list">
<li>Be clear and confident. Say, &#8220;I am concerned I might have endometriosis because of these specific symptoms.&#8221;</li>



<li>Don&#8217;t be afraid to ask questions. &#8220;What are the next steps for diagnosis?&#8221; or &#8220;Could we explore treatment options for my pain now?&#8221;</li>



<li>If you feel dismissed, get a second opinion. Look for a gynecologist who specializes in endometriosis or pelvic pain.</li>
</ul>



<h3 class="wp-block-heading" id="h-manage-symptoms">Manage symptoms</h3>



There’s no one-size-fits-all approach, but experts agree that certain lifestyle habits can make a difference:



<ul class="wp-block-list">
<li>Exercise: Activities like yoga can improve blood flow, relax muscles, and reduce pain.</li>



<li>Relaxation and self-care: Rest, warmth on the lower stomach (like a heating pad, warm water bottle, or bath), and gentle movement can help ease discomfort.</li>
</ul>



Medical options may include medications to manage pain and hormone levels, pelvic floor physical therapy, and in some cases, surgery. Because endometriosis tissue can respond to estrogen, symptoms may improve after menopause, when estrogen levels remain consistently low.



<h2 class="wp-block-heading" id="h-take-the-next-steps">Take the next steps</h2>



Endometriosis pain is not an exaggeration, and it deserves to be taken seriously. Seeking answers is the first and most powerful step toward managing your health and reclaiming your quality of life.



Ready to learn more about your health and genetics and take the next step in your journey? Learn more about <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a> or <a href="https://www.23andme.com/total-health/" target="_blank" rel="noreferrer noopener">Total Health</a> memberships.



Already part of 23andMe? <a href="https://you.23andme.com/" target="_blank" rel="noreferrer noopener">Sign in</a> to view this report with your other Health Predisposition reports or upgrade 23andMe+ Premium or Total Health memberships.



* The 23andMe Endometriosis PRS report is based on a genetic model that includes data and insights from 23andMe consented research participants and incorporates more than 13,000 genetic variants to provide information on the likelihood of developing endometriosis. The report does not describe a person’s overall likelihood, does not account for lifestyle or family history, and has not been reviewed by the US Food and Drug Administration. The Endometriosis PRS report is not intended to tell you anything about your current state of health, or to be used to make medical decisions or determine any treatment. 



NOTE: Within this blog post, we use the words &#8220;women&#8221; and &#8220;female&#8221; to refer to people whose sex assigned at birth is female. However, we recognize that not everyone who experiences endometriosis will identify as female, and being categorized by birth sex may be an uncomfortable experience for some people. We do not mean to delegitimize anyone’s gender identity. Learn more about why we made this decision in this <a href="https://customercare.23andme.com/hc/en-us/articles/360010964373-How-23andMe-Uses-Your-Genetic-Sex-Birth-Sex-and-Gender" target="_blank" rel="noreferrer noopener">help article</a>.

Could Your Painful Periods Be Endometriosis? Here’s What You Should Know

This week, 23andMe added a new genetic report to help us all be more aware of an often overlooked contributor to health disparities.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="763" src="http://35.88.189.111/wp-content/uploads/2025/08/duffy-statistic-1024x763.png" alt="" class="wp-image-34101" style="width:309px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-1024x763.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-300x224.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-768x572.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-880x656.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic-1180x879.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/duffy-statistic.png 1224w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<a href="https://pubmed.ncbi.nlm.nih.gov/35994632/" target="_blank" rel="noreferrer noopener">Nearly 70%</a> of Black and African Americans have two copies of a variant in the Duffy antigen gene that can cause them to have white blood cell (WBC) counts that are lower than most standard reference ranges.&nbsp;



People who have this genotype — called Duffy null status — do not have an increased risk for <a href="https://pubmed.ncbi.nlm.nih.gov/32959868/" target="_blank" rel="noreferrer noopener">infection</a> or <a href="https://pubmed.ncbi.nlm.nih.gov/39825822/" target="_blank" rel="noreferrer noopener">other health problems</a>. But they may be flagged incorrectly as having abnormally low WBC counts, which can negatively impact the healthcare they receive.&nbsp;



&#8220;I&#8217;ve seen patients that are told that they might have cancer, go through painful bone marrow biopsies, miss out on joining clinical trials, or have critical medications like chemotherapy discontinued simply because their white blood cell counts were interpreted without understanding their Duffy status,&#8221; says Dr. Lauren Merz, Assistant Professor of Medicine, Division of Hematology/Oncology at the University of Michigan, who is leading efforts to raise awareness about Duffy null status and develop Duffy null-specific reference ranges and who provided expert feedback on 23andMe&#8217;s new report.



<h2 class="wp-block-heading" id="h-when-a-one-size-fits-all-blood-test-falls-short">When a one-size-fits-all blood test falls short</h2>



When we have our blood drawn, testing labs use reference ranges to determine whether our results fall in the range considered &#8220;normal&#8221; or are too high or too low, which can flag the need for clinical follow-up. One common blood test measures neutrophils, which are a type of white blood cell that helps the body fight infections.



Most neutrophil reference ranges are defined based on populations where Duffy null status is rare, such as people with European or Asian genetic ancestry. And blood testing labs don&#8217;t usually take into account Duffy status. As a result, <a href="https://pubmed.ncbi.nlm.nih.gov/35994632/" target="_blank" rel="noreferrer noopener">nearly 25%</a> of healthy Black and African Americans with Duffy null status — and more than 15% of all Black and African Americans — have neutrophil counts below the standard reference range.



These individuals may be misdiagnosed with neutropenia (low neutrophil counts), which can lead to a number of downstream harms, including <a href="https://pubmed.ncbi.nlm.nih.gov/34180972/" target="_blank" rel="noreferrer noopener">unnecessary specialty referrals and follow-up tests</a> like bone marrow biopsies; <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">exclusion from clinical trials</a> (because many trials require a minimum number of neutrophils that is higher than the normal range for people with the Duffy null genotype); and delayed or reduced access to medications for <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">cancer</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/34645395/" target="_blank" rel="noreferrer noopener">mental health conditions</a>, and <a href="https://pubmed.ncbi.nlm.nih.gov/35724382/" target="_blank" rel="noreferrer noopener">autoimmune disorders</a>. (See the sidebar at the bottom for more details.)



<h2 class="wp-block-heading" id="h-what-is-the-duffy-antigen-and-how-does-it-impact-white-blood-cells">What is the Duffy antigen, and how does it impact white blood cells?</h2>



<figure class="wp-block-image alignleft size-large is-resized"><img loading="lazy" decoding="async" width="87" height="138" src="http://35.88.189.111/wp-content/uploads/2021/11/research.b57972a5e8fa.svg" alt="an icon representing research" class="wp-image-29284" style="width:117px;height:auto"/></figure>



The Duffy antigen is a protein found on the surface of red blood cells and certain other cells in the body. People with two copies of a specific <a href="https://www.cincinnatichildrens.org/health/d/duffy-null-associated-neutrophil-count" target="_blank" rel="noreferrer noopener">genetic variant in the ACKR1 (Duffy antigen) gene</a> don&#8217;t express this protein on their red blood cells — giving rise to the name &#8220;Duffy null.&#8221;



Being Duffy null can also impact infection-fighting white blood cells called neutrophils. People who are Duffy null tend to have naturally lower levels of circulating neutrophils in the peripheral blood — <a href="https://pubmed.ncbi.nlm.nih.gov/37338884/" target="_blank" rel="noreferrer noopener">about 40% lower, on average</a>. But they don&#8217;t have an increased risk for infection, because the total number of neutrophils in their bodies remains the same. (Their neutrophils just move from the blood into other tissues like the spleen more easily.)



In the past, healthy people with low neutrophil counts were said to have &#8220;benign ethnic neutropenia,&#8221; because the Duffy null variant is more common in certain populations. But the preferred name is now <a href="https://www.cincinnatichildrens.org/health/d/duffy-null-associated-neutrophil-count" target="_blank" rel="noreferrer noopener">Duffy null-associated neutrophil count (DANC)</a>, as this refers to the biological driver of Duffy status rather than the social construct of race or ethnicity — and highlights that lower neutrophil counts are normal for people who are Duffy null.



<h2 class="wp-block-heading" id="h-is-duffy-null-status-associated-with-any-health-conditions">Is Duffy null status associated with any health conditions?</h2>



To date, there is no robust evidence that people with Duffy null status are at increased risk for any health conditions. In fact, a <a href="https://pubmed.ncbi.nlm.nih.gov/39825822/" target="_blank" rel="noreferrer noopener">recent, large phenome-wide association study (PheWAS)</a> — which looked for potential associations between the Duffy null variant and 1,400 possible health conditions using the National Institutes of Health&#8217;s All of Us initiative and other cohorts — did not report any associations with disease. However, this is an active area of research.



<h2 class="wp-block-heading" id="h-why-is-duffy-null-status-most-common-in-certain-populations">Why is Duffy null status most common in certain populations?</h2>



Although anyone can have Duffy null status, it is most common among people with African or Middle Eastern ancestry. In the U.S., two-thirds of people who identify as Black or African American have the Duffy null genotype, which means they do not express the Duffy antigen on their red blood cells.&nbsp;



Scientists believe this variant became common in certain populations because it <a href="https://pubmed.ncbi.nlm.nih.gov/21468018/" target="_blank" rel="noreferrer noopener">helps protect against Plasmodium vivax</a>, a malaria parasite that relies on the Duffy antigen to infect red blood cells. (The variant does not protect against other types of malaria.) Over generations, people in regions where this malaria parasite was widespread were more likely to inherit this protective variant, and it remains common today in people with ancestry from some malaria-endemic regions.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="934" height="597" src="http://35.88.189.111/wp-content/uploads/2025/08/af_rs2814778_C.png" alt="" class="wp-image-34139" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C.png 934w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-300x192.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-768x491.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/08/af_rs2814778_C-880x562.png 880w" sizes="auto, (max-width: 934px) 100vw, 934px" /><figcaption class="wp-element-caption">23andMe data also show that the Duffy null genetic variant is most common in people with ancestry from parts of the world where Plasmodium vivax malaria is common.</figcaption></figure>



<h2 class="wp-block-heading" id="h-the-importance-of-raising-awareness">The importance of raising awareness</h2>



Last year, the American Society of Hematology (ASH) launched the <a href="https://www.hematology.org/education/danc/danc-project" target="_blank" rel="noreferrer noopener">Absolute Neutrophil Count (ANC) by Duffy Status Project</a>, aimed at creating specific neutrophil reference ranges for people with the Duffy null genotype and advocating for broader awareness and testing.



&#8220;The Duffy null genotype is a perfect example of how well-meaning systems can fall short when they don&#8217;t reflect the full diversity of the people they serve,&#8221; says Dr. Merz. &#8220;Raising awareness — among both clinicians and patients — is essential to prevent misdiagnosis and ensure more equitable and personalized care.&#8221;



You can become your own advocate by learning about your Duffy status and sharing that information with your doctor.&nbsp;



The White Blood Cell Count (Duffy Antigen-Related) report is available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium™ members</a> with their other Wellness reports.



<div style="float: left; text-align: justified; width: 700px; background-color: #eee; padding: 15px; margin-left: 5px;">
 
<h3>A deeper dive: How lack of awareness of Duffy null status can lead to downstream harm</h3>


Although Duffy null status does not usually cause health problems, harms can arise when Duffy null individuals are misdiagnosed with abnormally low neutrophil counts. These harms can include:
<ul>
<li>
Unnecessary follow-up testing. In general, low neutrophil counts can prompt concern from doctors, because they can be caused by blood cancers like leukemia. Follow-up testing involves a bone marrow biopsy, which is an invasive and sometimes painful test. 
 Because their neutrophil counts may be naturally lower than standard reference ranges, people with Duffy null status are much more likely to receive <a href="https://pubmed.ncbi.nlm.nih.gov/34180972/" target="_blank" rel="noreferrer noopener">unnecessary bone marrow biopsies</a>. And one study reported that Duffy null status was the <a href="https://pubmed.ncbi.nlm.nih.gov/37419240/" target="_blank" rel="noreferrer noopener">most common reason</a> for children to be referred to a children&#8217;s hospital for low neutrophil counts.
</li>
 
<li>
Exclusion from clinical trials. Many chemotherapy drugs reduce WBC production, which can make patients more susceptible to infections. As a result, most cancer clinical trials require patients to have a minimum neutrophil count before starting the trial, to help keep patients safe. 
 But a recent study found that more than 75% of cancer clinical trials have neutrophil thresholds that <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">exclude some people with Duffy null status</a>. Researchers have suggested these exclusion criteria may be one reason that Black Americans are <a href="https://pubmed.ncbi.nlm.nih.gov/37477920/" target="_blank" rel="noreferrer noopener">less likely to be included in cancer clinical trials</a>.
</li>
 
<li>
Delayed or reduced access to medications. Because some medications reduce WBC production, patients often have their neutrophils counted before and during treatment, so that their clinicians can adjust the dose, delay the start of treatment, or discontinue medications if counts become too low. 
 Because people with Duffy null status tend to have lower starting neutrophil counts, they may experience reduced or delayed access to important medications for <a href="https://pubmed.ncbi.nlm.nih.gov/39259539/" target="_blank" rel="noreferrer noopener">cancer</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/34645395/" target="_blank" rel="noreferrer noopener">mental health conditions</a>, and <a href="https://pubmed.ncbi.nlm.nih.gov/35724382/" target="_blank" rel="noreferrer noopener">autoimmune disorders</a>, or inappropriate dose adjustments. Because chemotherapy dose often increases the chance of survival, some scientists think that inappropriate chemotherapy dosing related to Duffy null status could help explain, in part, why <a href="https://www.cancer.org/about-us/what-we-do/health-equity/cancer-disparities-in-the-black-community.html" target="_blank" rel="noreferrer noopener">breast cancer mortality is higher in Black than white Americans</a>.
</li>
</ul>

</div>

The Duffy Antigen Gene: A Clue Behind White Blood Cell Differences

<img loading="lazy" decoding="async" class="aligncenter wp-image-17071 size-full" title="Canadian Flag" src="http://35.88.189.111/wp-content/uploads/2012/12/iStock_000013180750XSmall.jpg" alt="" width="425" height="282" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/12/iStock_000013180750XSmall.jpg 425w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/12/iStock_000013180750XSmall-300x199.jpg 300w" sizes="auto, (max-width: 425px) 100vw, 425px" />
You’ve got to love the lead sentence of the<a href="http://www.theglobeandmail.com/news/national/time-to-lead/would-you-make-your-dna-and-health-data-public-if-it-may-help-cure-disease/article6090038/?page=all"> Daily Globe and Mail story</a> about the launch of a Canadian Genome Project:
“Jill Davies is Canuck One.”
<h2>Genome Canada</h2>
Ms. Davies is the first of what researchers hope will be 100,000 people to join the<a href="http://personalgenomes.ca/"> Personal Genome Project in Canada</a>.
Like its counterpart in the United States, which was started in 2005 by Harvard’s George Church, the Canadian effort aims to create a public and mostly anonymous database of sequenced individuals. (Prof. Church is also on 23andMe’s scientific advisory board.)
North Americans aren’t the only ones building databases to fuel scientific breakthroughs. A similar program is expected to launch in Britain next year, while the<a href="http://www.genomics.cn/en/navigation/show_navigation?nid=5658"> Beijing Genomics Institute</a> wants to sequence a million people in China. Another effort exists to sequence 100 Arabs in Saudi Arabia as well.
<h2>Personal Genome Project</h2>
The Personal Genome Project in the US has already become an essential reference data source for researchers, including scientists here at 23andMe. The reference data has become instrumental in the development of genomic medicine. Still, the data has also helped advance our understanding of basic human biology and the origins of modern humans.
Stephen W. Scherer, the director of a $100 million genomic-medicine institute at the University of Toronto, spearheads the Personal Genome Project—Canada. Like in the US, the hope in Canada is that over time, as the costs for full-genome sequencing continue to fall, sequencing will become more common, and the growing database will fuel future discoveries.
<h2>Full Genome Sequencing Era</h2>
23andMe is also<a href="https://blog.23andme.com/?p=16963"> working towards</a> the era of full-genome sequencing. Right now, 23andMe offers genotyping, which looks at about a million points, or single-nucleotide polymorphisms (SNPs), in a person’s genome to glean health and ancestry information, rather than the entire sequence.
But in the last year or two, we’ve worked on several sequencing projects, including our Exome Pilot and a project that sequences individuals with rare mutations associated with Parkinson’s disease.
In contrast to genotyping, sequencing is a method used to determine the exact sequence of a certain length of DNA. You can sequence a short piece, the whole genome, or parts of the genome  – such as the “exome,” the part formed by exons, the coding portions of our genes. These provide the blueprint for the creation of proteins.
Depending on the location, a given locus may include some DNA that varies between individuals, like SNPs, and regions with little or no variation. Thus, sequencing can be used to genotype someone for known variants and identify variants that may be unique to that person. Finally, whereas genotyping requires upfront targeting of precise base pairs, sequencing only involves targeting the locus or the genomic region and, therefore, can discover additional genetic variation.
<h2>The Power of Big Data</h2>
Unfortunately, sequencing technology has not yet progressed to the point where it is feasible to sequence an entire person’s genome quickly and cheaply.
It took the Human Genome Project over 10 years of work by multiple labs to sequence the whole genomes of just a few individuals to the tune of almost three billion dollars. But it is getting cheap enough that projects like the Personal Genome Project are setting their sights on sequencing hundreds of thousands or even millions of people. Combined with information about people’s health and traits, these huge data sets are poised to transform medical research in the years to come.

DNA, Eh – Canadian Genome Project in the News

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6003" title="bushmen" src="https://blog-api.23andme.com/wp-content/uploads/2010/02/bushmen.jpg" alt="" width="350" height="232" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/02/bushmen.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/02/bushmen-300x199.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />Group of hunters from the Ju/’hoansi tribe in the Namibian Bush/ Stephan C. Schuster
Researchers from Penn State University, the University of New South Wales in Australia, and the Baylor College of Medicine have sequenced the genomes of four individuals from different groups of the click-speaking San of southern Africa, as well as of Bishop Desmond Tutu of South Africa.   Their results, published online yesterday in the journal <a href="https://dx.doi.org/10.1038/nature08795" target="_blank" rel="noopener">Nature</a>, are providing striking new insights into human genetic diversity.
Joanna Mountain, 23andMe&#8217;s Senior Director of Research, has been studying the genetics of click-speaking peoples of Africa for over ten years.   Dr. Mountain said the new study &#8220;has demonstrated that any two San individuals are as genetically different from one another as a European and a Chinese individual. Clearly the linguistic diversity of the San is matched or even exceeded by their genetic diversity. Furthermore, even though the San Bushmen are often described, even by this study&#8217;s authors, as the &#8216;oldest known lineage of modern humans,&#8217; the new genetic data reveal that the San have evolved genetically as much as any group, partly through the random mutations that occur over time, but also through changes that enabled them to handle their often challenging, exceedingly dry environment.&#8221;
Read more about this study:
<ul>
<li><a href="https://www.nytimes.com/2010/02/18/science/18genome.html" target="_blank" rel="noopener">New York Times</a></li>
<li>Technology Review</li>
<li>Not Exactly Rocket Science</li>
</ul>

Southern African Genomes Sequenced

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1945" title="702" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/702.jpg" alt="" width="300" height="370" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/11/702.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/11/702-243x300.jpg 243w" sizes="auto, (max-width: 300px) 100vw, 300px" />
When I was 12 years old I did my first <a href="https://en.wikipedia.org/wiki/Punnett_square" target="_blank" rel="noopener">Punnett square</a> and decided that genetics was absolutely, most definitely the coolest thing ever.
When I was 13 years old they started the <a href="http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml" target="_blank" rel="noopener">Human Genome Project</a>. The task of sequencing all three billion base pairs in a person’s genome was the most enormous project I could imagine. And I didn’t even understand you had to cover the whole thing more than once to do it right.
I was just finishing my first year of graduate school when HGP leaders and President Clinton <a href="http://www.ornl.gov/sci/techresources/Human_Genome/project/clinton1.shtml" target="_blank" rel="noopener">announced</a> the working draft of the human genome.
Now I’m 31 and I’ve actually seen my own genetic data through <a href="https://www.23andme.com/" target="_blank" rel="noopener">23andMe</a>.
The totally mind blowing-ness of how quickly things have changed hit me today as I listened to two talks at the <a href="http://ashg.org/" target="_blank" rel="noopener">ASHG </a>meeting in Philadelphia.

First, there was Jun Wang from the Beijing Genomics Institute. He and his colleagues recently published the <a href="https://www.nature.com/nature/journal/v456/n7218/abs/nature07484.html" target="_blank" rel="noopener">first full genome sequence of an Asian individual</a>. The numbers and statistics that he presented were all very impressive, but what struck me most were his descriptions of the logic behind two of his other endeavors, the Tree of Life project that is sequencing various crops and the Giant Panda Project: “Taste good, sequence it” and “Look cute, sequence it.”
Obviously there are good scientific reasons for both of these projects. But can you believe we live in a time where you literally could just sequence something’s genome because it was tasty or cuddly?!
The second talk that really drove home for me what a special genetic era we have entered into was by David Altschuler on behalf of the 1000 Genomes Project. This multi-national public/private endeavor is going to do exactly what its name suggests — targeted sequencing of 1000 peoples&#8217; genomes to create the most complete catalogue of human variation ever.
The implications of the project are huge. But for me, a biologist who vaguely remembers that there was a time when people did science without much computer power or the internet, the craziest thing was when Altschuler put the sheer amount of data the project is producing into perspective: each week in September and October of this year the 1000 Genomes Project created the equivalent of all the data in <a href="https://www.ncbi.nlm.nih.gov/Genbank/" target="_blank" rel="noopener">GenBank</a>. Each week! In 2009 the 1000 Genomes project expects to create 1 petabyte (1,000,000,000,000,000 bytes) of data. For comparison Altschuler said that the <a href="http://public.web.cern.ch/public/en/LHC/LHC-en.html" target="_blank" rel="noopener">Large Hadron Collider</a>, which is expected to create 15 petabyes per year, has had to set up a system of 140 data centers in 33 countries.
Maybe you already know all this and aren’t that impressed anymore. Maybe you’re more concerned with what these and other researchers are actually going to do with all of this sequence data. But for just a second, I want you to think about how cool this all this. What other branch of science has ever moved so fast? One of the guys who discovered the structure of DNA is still around and has had his whole genome sequenced. And someday soon, you may have yours sequenced as well.
Photo: <a href="http://genomics.energy.gov" target="_blank" rel="noopener">U.S. Department of Energy Genome Programs</a>

My Mind Has Been Blown By Genome Sequencing

By Jey McCreight &amp; Ava Daniel
To honor Women’s History Month, 23andMe is sharing stories of a few female scientists who contributed to the field of genetics, each of whom made their mark despite great societal and institutional obstacles.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-28112" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-300x157.jpg" alt="" width="300" height="157" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost-300x157.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost-768x402.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost-1024x536.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost-880x461.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost-1180x618.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/WHM-BlogPost.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Nowadays most people have heard of <a href="https://en.wikipedia.org/wiki/Rosalind_Franklin">Rosalind Franklin</a>, the X-ray crystallographer who along with Watson and Crick famously contributed to the discovery of the double-helix structure of DNA. But for years her contribution was not recognized. It took a concerted effort to draw attention to her important contribution, making her a classic example of the hidden woman in science.
The reality is that women have been contributing to scientific research for hundreds of years, but institutionalized sexism has long prevented them from getting the credit they deserve. The field of genetic research is no exception. Here we would like to do our part in setting the record straight by highlighting some of the women who made important discoveries that built the foundation for modern genetics research.

<h6><a href="https://en.wikipedia.org/wiki/Janaki_Ammal">Janaki Ammal, Ph.D.</a> (1897-1984) </h6>
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24284" src="https://blog-api.23andme.com/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg" alt="" width="192" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg 192w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/09/Microscope-Icon.jpg 456w" sizes="auto, (max-width: 192px) 100vw, 192px" />An Indian botanist and cytologist who studied the variation in chromosome number, or ploidy, across a wide range of garden plants. This led to many insights into how species and varieties of plants evolved. She was the first woman to attain a Ph.D. in botany in the US, and the Janaki Ammal Award of Taxonomy was created in 1999 to encourage students and scholars to pursue this field of work.
<h6><a href="https://en.wikipedia.org/wiki/Charlotte_Auerbach">Charlotte Auerbach, Ph.D.</a> (1899-1994)</h6>
A German Jewish geneticist who was a pioneer in studying what causes genetic mutations. She authored a total of 91 papers and was a Fellow of the Royal Society of Edinburgh and the Royal Society of London. She was also a recipient of the 1976 Darwin Medal.
<h6><a href="https://en.wikipedia.org/wiki/Martha_Chase">Martha Chase, Ph.D.</a> (1927-2003)</h6>
An American geneticist credited with confirming DNA as the genetic material of life. She and Alfred Hershey created and performed the notable Hershey-Chase experiment, which proved that DNA, not protein, held and transmitted genetic information. Hershey was awarded a Nobel Prize for the achievement, but Chase was not.
<h6><a href="https://en.wikipedia.org/wiki/Marie_Maynard_Daly">Marie Maynard Daly, Ph.D.</a> (1921-2003)</h6>
An African American biochemist. She was the first Black woman to earn a doctorate in biochemistry in the U.S. She is most notable for her research involving the creation of proteins, as well as histones, which are the proteins that help package DNA into chromosomes. Watson cited Daly’s research as having contributed to research into the structure of DNA.
<h6><a href="https://en.wikipedia.org/wiki/Margaret_Oakley_Dayhoff">Margaret Oakley Dayhoff, Ph.D.</a> (1925-1983)</h6>
An American physical chemist and pioneer in the field of bioinformatics. She was one of the first scientists to integrate mathematics, computation, and biochemistry. She is known for originating point accepted mutations (PAM) and creating the one-letter code for amino acids &#8211; those As, Ts, Cs, and Gs.
<h6><a href="https://en.wikipedia.org/wiki/Esther_Lederberg">Esther Lederberg, Ph.D.</a> (1922-2006) <img loading="lazy" decoding="async" class="alignright size-medium wp-image-171" src="https://blog-api.23andme.com/wp-content/uploads/2008/04/23chromosomes1-300x214.jpg" alt="" width="300" height="214" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/04/23chromosomes1-300x214.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/04/23chromosomes1.jpg 435w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
An American microbiologist who pioneered the field of bacterial genetics. She developed the microbial technique of replica plating, which can be used to investigate antibiotic resistance. Lederberg also discovered the ? bacteriophage, a virus frequently used as a tool in genetics experiments, as well as bacterial F-plasmid, a piece of DNA that gives bacteria the ability to transfer DNA to each other. She also founded and directed the Plasmid Reference Center at Stanford University.
<h6><a href="https://en.wikipedia.org/wiki/Mary_F._Lyon">Mary Frances Lyon, Ph.D.</a> (1925-2014)</h6>
A British geneticist best known for her discovery of X-chromosome inactivation. This is a process by which one X chromosome is inactivated in some female mammals, including humans. <a href="http://www.bio.miami.edu/dana/dox/calico.html">Calico cats</a> are a fantastic visual representation of the phenomena. A Cambridge graduate, she was the recipient of over a dozen notable awards in the field of genetics for her work.
<h6>
<a href="https://en.wikipedia.org/wiki/Barbara_McClintock">Barbara McClintock, Ph.D.</a> (1902-1992)</h6>
An American maize cytogeneticist who discovered transposable elements. These are DNA sequences that can change position within a genome, and their discovery helped illustrate how genes affect physical characteristics. McClintock also demonstrated fundamental genetic ideas like recombination, crossing-over, and the role of telomeres and centromeres. She is the only woman who has received an unshared Nobel Prize in Physiology or Medicine.
<h6><a href="https://en.wikipedia.org/wiki/Ruth_Sager">Ruth Sager, Ph.D.</a> (1918-1997)</h6>
An American geneticist known for pioneering the field of cytoplasmic genetics. She is credited with discovering the transmission of genetic traits through chloroplast DNA, which is found in plants. She also conducted groundbreaking cancer genetics research on tumor suppressor genes in the early 1970s.
<h6><a href="https://en.wikipedia.org/wiki/Nettie_Stevens">Nettie Stevens, Ph.D.</a> (1861-1912)</h6>
An early American geneticist credited with the discovery of sex chromosomes (X and Y). She was the first American woman acknowledged for her contributions to science. Her work expanded the fields of modern genetics, cytology, and embryology.
Know of any other women in the realm of scientific advancement? Join the conversation by commenting below.

Women Who Advanced Genetic Science

By Janie F. Shelton, Ph.D., MPH, Senior Scientist at 23andMe
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As a woman in tech, articles about Silicon Valley’s bad behavior often catch my eye. Alongside the descriptions of the ping-pong tables, gluten-free snacks, and the on-tap craft beer, are stories that describe the underside of tech culture that is often just as hostile to women as the broader corporate world.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/509Z-23_original-540x742-1-218x300.jpeg" alt="" class="alignright wp-image-28091 size-medium" width="218" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/509Z-23_original-540x742-1-218x300.jpeg 218w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/509Z-23_original-540x742-1.jpeg 540w" sizes="auto, (max-width: 218px) 100vw, 218px" />
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Being an innovative company doesn’t always translate into creating an innovative work culture. Fortunately, there are places that do both. I know because I work at one — a groundbreaking biotech company that embraces gender diversity. For <a href="https://www.unwomen.org/en/news/in-focus/international-womens-day">International Women&#8217;s Day</a>, I want to highlight what gender parity looks like in business. 

<h6>Comparing Percentages</h6>
With recent evidence that gender equity in leadership improves the <a href="https://www.spglobal.com/_division_assets/images/special-editorial/iif-2019/whenwomenlead_.pdf">bottom line and so much conversation about the value of creating a culture where this is possible, </a>it’s worth taking a look at a company with a workforce almost equally split between men and women and with 42 percent of leadership roles occupied by women. Even more dramatic is that 60 percent of the vice president and above positions at 23andMe are occupied by women, and, of course, we are led by a woman. 
Only about 5 percent of the S&amp;P 500 companies have women CEOs, and women occupy just 26 percent of the executive or senior management positions at those companies.  The numbers for tech companies are worse. 
A recent study done on diversity in tech by the <a href="https://www.eeoc.gov/eeoc/statistics/reports/hightech/index.cfm">U.S. Equal Opportunity Commission</a> found that tech companies employed fewer women than the nation as a whole and that fewer women served in leadership roles. The numbers from that six-year-old study found that only about 20 percent of women were in leadership roles at tech companies. Looking at the private sector in general, women served in 29 percent of the leadership roles. 
<h6>Stalled Progress</h6>
It’s instructive to look at gender equity not just because of what it means for women, but for what it means for diversity more broadly. While some statistics show <a href="https://www.mckinsey.com/featured-insights/gender-equality/women-in-the-workplace-2019">modest improvements</a> for women in the last decade, we’re still far away from true equality in opportunity for women. 
A World Economic Forum report found that gender parity efforts in the United States were “<a href="https://www.weforum.org/agenda/2019/12/gender-gap-report-gender-parity-how-to-speed-up-progress/">stalling</a>.” Estimates are that compensation for women across a wide range of sectors won’t reach parity with men until <a href="https://www.wraltechwire.com/2020/01/02/world-faces-100-year-wait-for-gender-parity-us-even-longer-report/">2120</a>. 
With a few exceptions, the picture isn’t much better in Silicon Valley which has seen greater wealth creation than any region in history.
<h6>My Story</h6>
I stuck my toe in the water of tech at the age of 35, when I was 5-months pregnant. Perhaps not the best time to be looking for a job, but what I encountered was a culture welcoming of women, and parenthood. 
In fact, when I had finished with negotiations and accepted the job offer I was wincing when I told the 23andMe HR director I was expecting. She immediately responded with, “Congratulations! We love babies and children and hire a lot of pregnant people. Here are some of the great benefits I’d like to tell you about&#8230;” 
Fast-forward several years, I was promoted while out on maternity leave with my second daughter. I found this remarkable because it happened to my colleague too. It might be a commentary on the sad state of affairs for how women expect to be treated during pregnancy and maternity leave, but the impact is you are signaling to women at the company that yes, you can have a child and yes, you can also be a valued colleague entrusted with increasing responsibility.
<h6>The Whole Person</h6>
A culture that welcomed the “whole-person” at work was so different,  that I started to ask leaders to take their formula and shout it from the rooftops. But then I decided that I wanted to shout it from the rooftops. 
&nbsp;
Creating culture starts and ends with your values, but when women aren’t represented in leadership, how do those values get established? Here are a few observations about how 23andMe built a workplace that is welcoming to women by welcoming the “whole-person.” This is particularly important for women, who in traditional corporate culture have to hide who they are outside of work and their responsibilities at home or risk their career. 
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Here are a few things we do at 23andMe that I believe support women: 
<h6>Give challenging projects to women, and then let them take credit for their success. </h6>
23andMe signed some amazing deals in the past two years that were executed by majority-female teams. One of the most important agreements the company has ever entered into came together because of the women that made it happen, all while raising very young children.
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Giving visibility into other women succeeding not only gives credit where credit is due, but it shows other women — and men — in the company that yes you can have a family and be a critical asset to the company. 
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<h6>Recruit VPs who care about work-life balance. </h6>
At 23andMe, 42 percent of director-level positions and above are held by women. Not only that, many people in leadership roles are parents. If you want to have a family and be an executive, it is challenging to imagine how you might do that unless you see it done. 
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That matters because you want your employees to see a path forward. You want them to feel inspired to work hard to get to the next level. People naturally want to achieve and do well. But the demands of the home can create feelings of shame and underachievement in the workplace. It is liberating, inspiring, and motivating to see a VP leaving at 4 pm on some days to pick up his or her kids. It&#8217;s refreshing to see a VP take the afternoon for a field trip with his or her child&#8217;s class. And those leaders support employees doing the same. 
As Sheryl Sandberg says in her book Lean In, if you are a person in a higher-level role, “leave loudly.” 
Again the message should be that, yes you have to get your job done, but that doesn’t mean you neglect your responsibilities at home. 
<h6>When times get tough, have your team members’ backs. </h6>
People get married. They have children. They get divorced. They get sick. They lose parents. Support them through this. At 23andMe, I have heard our founder and CEO talk about this as an underlying management philosophy. 
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Why does this matter for gender equity at work? Because women shoulder much of the <a href="https://www.nydailynews.com/life-style/women-double-emotional-labor-men-article-1.3834039">emotional and physical labor</a> of keeping families together. If you treat people well during these major life events, you acknowledge and welcome the whole person in the workplace. And, by the way, this approach helps everyone who has a full life and commitments outside of work. It&#8217;s not just for people with children. 
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<h6>Celebrate pregnancy and welcome children. </h6>
<div id="attachment_28106" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28106" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/Playroom-300x300.jpg" alt="" class="wp-image-28106 size-medium" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-768x768.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-1024x1024.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-880x880.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-1180x1180.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-372x372.jpg 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-574x574.jpg 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom-980x980.jpg 980w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/03/Playroom.jpg 1440w" sizes="auto, (max-width: 300px) 100vw, 300px" />An employee&#8217;s son, testing out the kids&#8217; room at 23andMe&#8217;s office.</div>
Anne Wojcicki, the CEO, and co-founder of 23andMe loves kids. She brings her kids into the office. She encouraged the creation of a fun kid-friendly space in our headquarters where we have games and a play structure for our kids when they are visiting. There are also several very well appointed “mother’s rooms,” where we can breastfeed or pump. And Anne has never been so excited to talk to me as when I was pregnant. She is so happy when people have babies. She encourages you to bring them into the office. And wait for the show stopper – she personally offered to babysit for me. Let me repeat that last one. The CEO of my company offered to babysit my child. 
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Now, if you are a CEO, don’t worry, you don’t have to babysit anyone’s kids. Company leaders set an example that can reach all the way down the organization to foster gender equity. Supporting women during and just after pregnancy, when they are most vulnerable and most at-risk for leaving, pays off in the long run. It builds deeper commitments from those women and retaining talent. It’s the kind of whole-person positivity that makes one actually feel good about their job and the place they work. 
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Creating and nurturing culture is hard. But intentional steps to welcome the whole person into the workplace adds more value than you might think. Not just for women, but for everybody. 
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When a male engineer recently told me why he came to 23andMe instead of going to Google or Facebook he said he got sick of the bro culture. He wanted more work-life balance. 
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Instead of adding another perk like laundry service or a sushi bar to get an edge on hiring during boom-times in Silicon Valley,  tech companies should optimize for woman-positive, whole-self work culture. 
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I’ll take it.

Women in tech: a look inside the culture of 23andMe

There are many wonderful things about being a woman, but our increased risk of autoimmune disease is not one of them. Autoimmune diseases are essentially civil wars within the body &#8212; the body’s immune system attacks its own organs and tissues. The term “autoimmune” covers a wide variety of conditions, from rheumatoid arthritis and multiple sclerosis to the lesser-known conditions of Hashimoto’s thyroiditis and SjÃ¶gren’s syndrome.
One commonality of these conditions is that they affect women much more frequently than men. In some cases, this g<img loading="lazy" decoding="async" class="alignright wp-image-12225 size-large" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/Autoimmune1.jpg" width="535" height="392" />ender bias is quite striking; Hashimoto’s thyroiditis, a condition in which the immune system attacks the thyroid gland, affects women ten times more often than men. Some autoimmune diseases, however, are less biased; type I diabetes, for instance, affects women and men at approximately the same rate.
Why women are disproportionately affected by autoimmune disease is not fully known or understood, although the hypotheses are numerous. Some research suggests that estrogen may help antibody production and immune system response, but can also lead to an overly active immune system. Other research indicates that genes on the X chromosomes may play a role in these immune system mutinies, and women &#8212; who have two X chromosomes &#8212; may thus be at an increased risk over men who have only one X chromosome.
Still other research suggests that “fetal-maternal microchimerism” may be the root cause. In this strange-sounding phenomenon, a small number of the baby’s cells pass through the placenta into the mother and continue to live within the mother. The presence of these foreign fetal cells within the mother may result in an incorrect immune system response and autoimmune disease. More research, however, is needed to establish which of these hypotheses (if any) are correct.
Autoimmune diseases are serious medical concerns for women; indeed, when taken together, autoimmune diseases constitute one of the top ten causes of death among young and middle-aged women. The irony of these conditions is that the immune system, which should be a woman’s greatest ally in fighting disease, becomes her worst enemy. Why and how a body’s betrayal occurs needs to be better understood through further research.
<img loading="lazy" decoding="async" class="alignnone size-full wp-image-12789" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/2012-nwhw-web-banner.png" width="408" height="104" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/2012-nwhw-web-banner.png 408w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2012/05/2012-nwhw-web-banner-300x76.png 300w" sizes="auto, (max-width: 408px) 100vw, 408px" />

The War Waged Within: Autoimmunity in Women

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7140" title="iStock_000006212593XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg" alt="" width="308" height="307" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg 347w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/08/iStock_000006212593XSmall-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/08/iStock_000006212593XSmall-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/08/iStock_000006212593XSmall-271x271.jpg 271w" sizes="auto, (max-width: 308px) 100vw, 308px" />
Endometriosis, one of the most common gynecological conditions, occurs when tissue from the lining of the uterus implants elsewhere in the body–most commonly the fallopian tubes, the ovaries or the pelvis.
<h2>What is Endometriosis?</h2>
This tissue responds to hormonal cycles by thickening, breaking down and bleeding each month. The blood can become trapped, irritating surrounding tissue and leading to cysts and scars.
Because relatives of women with endometriosis are about seven times more likely to be affected themselves, there is thought to be a strong genetic component to the condition.
<h2>Common Genetic Variants</h2>
Japanese researchers recently identified a common genetic variant that appears to be associated with increased risk of developing endometriosis. 
This finding, published in the journal <a href="https://dx.doi.org/10.1038/ng.612" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, may shed light on the underlying biology of this condition that affects an estimated 2-10% of women of reproductive age, and could perhaps one day facilitate new methods of prevention or treatment.
Satoko Uno and colleagues analyzed the DNA of a total of 1,423 women with endometriosis and 1,318 controls, all from Japan.   At first the researchers did not find any SNPs that had statistically significant associations with the condition.   However, when they took the 100 strongest associations and followed them up in an additional 484 women with endometriosis and 3,974 controls, they found evidence for association for one SNP located in the CDKN2BAS gene, which regulates genes known to be involved in cell division, including CDKN2A.   Based on previous research, the scientists suggest that regulation of CDKN2A might be critical for controlling cell growth in endometrial tissue.

Genetic Variation Associated with Endometriosis in Asian Women Identified

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3220" title="skincancer" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/skincancer.jpg" alt="" width="320" height="211" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/skincancer.jpg 320w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/skincancer-300x198.jpg 300w" sizes="auto, (max-width: 320px) 100vw, 320px" />
Melanoma, a rare but potentially deadly form of skin cancer, is more common in women under 40 than in men in the same age group.   After age 45, the tables are turned: men are more likely to be diagnosed with melanoma.
Between the ages of 40 and 50 happens to be when many women enter menopause or perimenopause, a time of declining estrogen levels.   This has prompted some researchers to suggest that estrogen exposure may play a part in melanoma risk.
In a report published last week in Clinical Cancer Research, researchers show that a genetic variation previously associated with several other cancers may be the link between estrogen and melanoma in younger women.   The riskier version of the variation increases the odds a woman will be diagnosed with melanoma before age 40 more than fourfold.
“Potentially, we have a genetic test that might identify pre-menopausal women who are at higher risk for melanoma.   And if that’s the case, then we might want to have increased surveillance of those patients including more frequent visits to the doctor, more rigorous teaching of skin self-examination, and other preventive steps,” said Dr. David Polsky, the study’s lead author, in a statement.
In a sample of 227 people with melanoma — 93 women and 134 men — researchers found that women with two Gs at a specific SNP in the MDM2 gene were diagnosed with the disease 13 years earlier than those with GT or TT at this SNP.   In men, there was no effect of on age at diagnosis.
About 52% of women with GG at this SNP were diagnosed with melanoma before age 50 — and 38% between ages 30 and 39.   Only about 22% of women with GT or TT were diagnosed before age 50. Although those figures are dramatic, it is important to remember that the SNP was not shown to affect melanoma risk generally, but the age at which people who do develop it are diagnosed.
Laboratory experiments have shown that the G version of this SNP causes the MDM2 gene to be turned on at higher levels in response to estrogen than the T version.
Higher levels of MDM2 protein may be relevant to melanoma, as well as other cancers, because its role in cells is to regulate a tumor suppressor protein called p53.   More MDM2 means less p53, which in turn can reduce a cell’s protection against turning into a cancer cell.
More research will be needed to confirm that there is an interaction between estrogen and the G version of SNP that affects melanoma risk.   The authors caution that their study was small, lacked information about the menopausal status of the women they studied and did not include a group of people without melanoma for comparison.
More work will also be needed to understand how the MDM2 gene and the protein it encodes affect cancer risk in general.   The G version of SNP has been associated with earlier onset for some cancers, including soft tissue sarcoma, diffuse large B-cell lymphoma, colorectal cancer, ovarian cancer and non-small cell lung cancer in women, and decreased survival in people with stomach and kidney cancer.   But there is evidence for improved survival in women with ovarian cancer who have the G version of this SNP.   Paradoxically, higher levels of the MDM2 protein (as would be expected with the G version of SNP shown to lead to earlier melanoma onset in the current study) have been associated with improved survival for melanoma.

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