<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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



Why are certain populations combined?



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



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



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



Why are some reference panels smaller than before?



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



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



Why is there no Indigenous Caribbean population?



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



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



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



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



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



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



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



Why did the colors change?



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



Who will get this update?



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



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



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



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

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

Each year from September 15–October 15, National Hispanic Heritage Month celebrates the histories, cultures, and contributions of people from Spain, Latin America, and other Spanish-speaking communities. To mark the occasion, we’re highlighting a remarkable ancient DNA study from Las Gobas, a medieval site in northern Spain that sheds new light on life in early Iberia, which comprises present-day Spain and Portugal.



<h2 class="wp-block-heading" id="h-setting-the-scene-iberia-in-the-early-medieval-period">Setting the Scene: Iberia in the Early Medieval Period</h2>



From the 5th to 8th centuries CE, Iberia was ruled by the Visigoths, a Germanic people who established power after the fall of the Western Roman Empire. In 711 CE, their kingdom collapsed after the Umayyads—an Islamic dynasty with roots in Arabia and North Africa—invaded and established the Emirate (and later the Caliphate) of Córdoba. This new state controlled much of Iberia, along with the Balearic Islands and parts of North Africa.



In the mountainous north, however, many communities retained their independence and Christian traditions, even as the rest of the Iberian peninsula underwent profound cultural and political change.



<h2 class="wp-block-heading" id="h-life-at-las-gobas">Life at Las Gobas</h2>



Las Gobas, located in today’s province of Burgos in northern Spain, consists of 13 rock-cut caves and several freestanding structures. Beginning in the 7th century, it served as a mixed-use settlement with homes, a Christian church, and a cemetery. By the late 9th century, the residential area was abandoned, but the site continued to be used as a burial ground and place of worship until the 11th century.



<a href="https://pubmed.ncbi.nlm.nih.gov/39196943/" target="_blank" rel="noreferrer noopener">In 2024</a>, researchers analyzed DNA from 33 individuals buried at Las Gobas. They discovered that the community’s ancestry remained surprisingly stable over the centuries, with little evidence of genetic influence from the Islamic expansion that reshaped much of Iberia.



Why was Las Gobas different? Their DNA offered a clue. Many individuals carried stretches of identical DNA inherited from both parents—patterns that often occur in small, insular populations with limited outside contact. This genetic isolation likely helped shield the community from broader population shifts happening elsewhere.



The study also revealed striking details about life at Las Gobas:



<ul class="wp-block-list">
<li>Inbreeding: The DNA of several individuals showed evidence that their parents were close relatives; likely first cousins or closer.</li>



<li>Disease: DNA evidence showed infections from multiple pathogens, including what may be one of the earliest documented cases of smallpox in northern Iberia.</li>



<li>Violence: Skeletal remains showed signs of traumatic injuries, likely from swords—evidence of interpersonal conflict or warfare.</li>
</ul>



Taken together, the findings paint a vivid—and sometimes harsh—picture of life more than a thousand years ago in a small, tightly knit community in northern Spain.



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



Want to see if you share a genetic connection with these newly added individuals from Las Gobas—or hundreds of other historical people? The <a href="https://blog.23andme.com/articles/23andmes-historic-matches" target="_blank" rel="noreferrer noopener">Historical Matches</a>SM feature is available to <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members.

New Historical Matches Could Connect You to the Medieval Iberian Site of Las Gobas

<a href="https://blog.23andme.com/articles/ancestry-composition-version-7-is-here" target="_blank" rel="noreferrer noopener">This update</a> is currently available to all eligible customers on the latest, V5, genotyping chip.



23andMe’s flagship Ancestry Composition algorithm was last updated in 2022, when three new reference populations were added in China. Since then, the 23andMe Ancestry Team has focused on improving the specificity of reference populations and updating the methods underlying this state-of-the art algorithm. The result? More specificity and accuracy in the ancestry breakdowns we provide.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="508" src="http://35.88.189.111/wp-content/uploads/2025/09/Ac-omega-map-correc-1024x508.png" alt="" class="wp-image-34246" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-1024x508.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-300x149.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-768x381.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-880x437.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/Ac-omega-map-correc-1180x585.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The project, Version 7 of Ancestry Composition, is the most significant update to the feature ever.



<h2 class="wp-block-heading" id="h-improved-algorithm-expanded-populations-better-results">Improved algorithm, expanded populations, better results</h2>



Over the last few months, we’ve been hard at work finalizing the details on this major update to your favorite report: Ancestry Composition.&nbsp;



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="499" src="http://35.88.189.111/wp-content/uploads/2025/09/image-3-1024x499.png" alt="" class="wp-image-34237" style="width:537px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-1024x499.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-300x146.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-768x374.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-880x429.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3-1180x575.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-3.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Here’s what we&#8217;ve been working on:



<ul class="wp-block-list">
<li>Better breakdowns in Europe and the Americas: Thanks mainly to consented 23andMe research participants we&#8217;ve been able to expand the number of unique populations in our reference datasets. Reference datasets are collections of DNA samples from people with deep roots in a specific part of the world. It&#8217;s what is needed to compare each piece of your DNA to in order to determine where in the world that DNA most likely came from. What this means is we’re launching with nearly four times the resolution in Europe and six new populations in the Americas. We also took the opportunity to refine reference datasets from around the world, making them more specific to each global population.</li>



<li>Enhanced Accuracy: The accuracy of these new ancestry results are greatly improved by using our <a href="https://www.cell.com/hgg-advances/fulltext/S2666-2477(25)00082-X" target="_blank" rel="noreferrer noopener">recently published</a>, state-of-the-art DNA phasing method. You could think of phasing as sorting which DNA you inherited from each parent. Reducing errors in phasing means a more accurate estimate of your ancestry percentages and better <a href="https://customercare.23andme.com/hc/en-us/articles/212860507-Chromosome-Painting-23andMe-Ancestry-Results" target="_blank" rel="noreferrer noopener">DNA Painting</a>.&nbsp;</li>



<li>Elimination of Broadly and Unassigned DNA: We are updating our algorithm to report the most likely assignment for a given stretch of DNA rather than at a fixed confidence threshold. This will have the benefit of eliminating &#8220;Broadly&#8221; and &#8220;Unassigned&#8221; categories in the default results view. You will still be able to view your results at different confidence thresholds in the Version History section.</li>



<li>Better Error Detection: We&#8217;ve upgraded our smoother to better filter out erroneous trace ancestries between two larger blocks of ancestry. See our <a href="https://www.23andme.com/ancestry-composition-guide/" target="_blank" rel="noreferrer noopener">Ancestry Composition Guide</a> for more information about the current smoother.</li>



<li>Version History: Compare your new results to your old ones in a new &#8220;Version History&#8221; section. <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members will also be able to access previous versions at different confidence settings.</li>
</ul>



<h2 class="wp-block-heading" id="h-what-are-the-new-reference-populations-nbsp">What are the new reference populations?&nbsp;</h2>



<ul class="wp-block-list">
<li>33 new ancestry populations in Europe are coming: Albanian &amp; Macedonian; Andalusian, Asturian &amp; Castilian; Aragonese &amp; Catalan; Austrian &amp; Southern German; Basque; Belarusian, Polish &amp; Ukrainian; Belgian, Rhinelander &amp; Southern Dutch; Bosnian, Croatian, Montenegrin &amp; Serbian; Bulgarian, Moldovan &amp; Romanian; Canary Islander; Czech, Hungarian, Slovak &amp; Southern Polish; Danish; Dutch &amp; Northern German; English; Estonian; Finnish; French; Greek; Icelandic; Irish; Kosovar &amp; Northern Albanian; Latvian; Lithuanian; Maltese; Northern Italian; Norwegian; Portuguese &amp; Galician; Russian; Sardinian; Scottish; Slovenian; Southern Italian; Swedish; Swiss, Southwestern German &amp; Western Austrian; Welsh</li>
</ul>



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="840" src="http://35.88.189.111/wp-content/uploads/2025/09/europe_map-1024x840.png" alt="" class="wp-image-34262" style="width:523px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-1024x840.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-300x246.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-768x630.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map-880x722.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/europe_map.png 1101w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<ul class="wp-block-list">
<li>Indigenous American will be broken into 6 new ancestry populations: Arctic North American, Central Andean &amp; Amazonian, North American, Northern Andean, Southern Mesoamerican, and Western North American</li>
</ul>



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="562" height="393" src="http://35.88.189.111/wp-content/uploads/2025/09/image-2.png" alt="" class="wp-image-34236" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-2.png 562w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/09/image-2-300x210.png 300w" sizes="auto, (max-width: 562px) 100vw, 562px" /></figure>



<h2 class="wp-block-heading" id="h-your-dna-story-now-clearer-across-time-place-and-family">Your DNA story, now clearer across time, place, and family</h2>



These updates, drawn from sharper science and richer data, power everything you use to explore your ancestry, including Ancestry Timeline, Parental Inheritance, DNA Painting, and more. This builds on the world’s most comprehensive ancestry breakdown on the market with over 4,000 regions, helping you experience the life-changing power of DNA by tracing where your ancestors lived and what they passed on to you.



Ancestry Composition, Version 7. More precision. More connection. More you.



This is a massive project for us and a chance to get back to our roots by digging deeper into yours. We’re thrilled you’re as excited as we are.



The 23andMe Ancestry Team

A Major Update to Ancestry Composition

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:



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



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



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



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



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



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



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



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



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



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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



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



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



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



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



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



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



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



Why might this be the case?&nbsp;



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



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



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



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

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

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



But that is now changing.



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

A Major Leap Forward in Understanding the Genetics of OCD

When it comes to her health, there is no bliss in ignorance for Kelly Anderson.
&#8220;For me, I&#8217;ve always wanted to know. I&#8217;ve always wanted to know what&#8217;s happening or what&#8217;s coming, so I can plan,&#8221; Kelly said. &#8220;I&#8217;m a planner.&#8221;
It&#8217;s what made receiving 23andMe <a href="https://www.23andme.com/dna-health-ancestry">Health + Ancestry Service</a> for her birthday such a perfect gift, she said. It offered her a chance to explore how genetics might affect her health, she said. 
&nbsp;

	<figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="769" height="1024" src="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-769x1024.jpg" alt="" class="wp-image-28844" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-769x1024.jpg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-768x1022.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-661x880.jpg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2-887x1180.jpg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2021/04/Kelly-A-2.jpg 1160w" sizes="auto, (max-width: 769px) 100vw, 769px" /></figure>
	
<h6>Wanting to Know </h6>
Kelly&#8217;s reports indicated that she had genetic variants that put her at a slightly increased risk for age-related macular degeneration (AMD).* AMD is the most common cause of irreversible vision loss in older adults. The disease causes damage to the central part of the retina, or the macula, impairing vision needed for reading, driving, or even recognizing faces.
23andMe&#8217;s report looks at two of the most common variants associated with increased risk for AMD. Kelly learned she had two copies of one of those variants.
&#8220;After I saw my report, I began reading more … and talking to my family,&#8221; she said.
<h6>Being Diligent</h6>
Kelly learned of a few relatives who had AMD. During her next check-up, she talked to her doctor, who suggested she discuss it in more depth with her optometrist. When she met with her optometrist, he told her it was good to know about this kind of risk early. 
&#8220;He added the information to my eye chart,&#8221; she said.
Her optometrist told her that he will regularly check for any early signs and symptoms. 
&#8220;I also plan to continue reading up on discoveries about AMD so I can remain informed,&#8221; she said.
For Kelly learning about the risk and then being able to act upon that information felt empowering. Giving her a clear-eyed view on managing her health. She plans to keep reading up on AMD and to be diligent about her annual check-ups.
&#8220;If there&#8217;s something I can do … I want to know,&#8221; she said. 
<hr />
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person&#8217;s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Age-Related Macular Degeneration (AMD) genetic health risk report is indicated for reporting of the Y402H variant in the CFH gene, and the A69S in the ARMS2 gene and describes if a person has variants associated with an increased risk of developing AMD. The variants included in this report are common in many ethnicities but are best studied in people of European descent.

Clear-Eyed About A Risk for AMD

Last week, 23andMe released two new genetic health risk reports for customers.<img loading="lazy" decoding="async" class="alignright wp-image-25671 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2017/08/eye.001-300x225.jpg" alt="" width="300" height="225" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/08/eye.001-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/08/eye.001-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/08/eye.001-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/08/eye.001.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Taken together, 23andMe’s Genetic Health Risk reports remain the only direct-to-consumer genetic health reports authorized by the FDA. They can tell you about genetic variants that may increase your risk of <a href="https://www.23andme.com/dna-health-ancestry/">developing certain serious health conditions</a>, such as late-onset Alzheimer’s disease and Parkinson’s.
The two new reports focus on two other conditions: <a href="https://www.23andme.com/topics/health-predispositions/amd">Age-related macular degeneration</a> (AMD), and <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hereditary Hemochromatosis</a>. AMD is a leading cause of irreparable vision loss and blindness in older Americans. Hemochromatosis, which is a genetic condition characterized by the absorption of too much dietary iron, can lead to iron overload and which in turn can cause damage to the liver, heart, and pancreas.
These reports look at genetic variants with well-established and meaningful effects on risk.
<h5>Age-related Macular Degeneration</h5>
Our new report on AMD looks at the two most common variants associated with the risk of developing the condition — Y402H and A69S.
There are two kinds of AMD— Dry AMD, which progresses more slowly and is milder, and it accounts for about 90 percent of all cases; and Wet AMD, which is more severe, progresses rapidly and accounts for the remaining cases.
A common symptom as AMD progresses is the development of a blurred area near the center of vision. Over time, the blurred area may grow larger or individuals may develop blank spots in their central vision. In addition objects may be less bright as the condition progresses.
Genetics plays a major role in developing both forms of AMD, although other factors also influence the risk, including diet, smoking, age, ethnicity (this report is most relevant to people of European ancestry) and exposure to sunlight. Lifestyle changes, like eating more leafy green vegetables, wearing sunglasses, and not smoking, can help reduce the risk of AMD.
While there are no treatments that can successfully reverse the damage from AMD, there are treatments that can help slow its progression. Researchers are looking to see if genetics influences the effectiveness of some of these treatments, such as the use of the injectable drug ranibizumab.
<h5>Hereditary Hemochromatosis</h5>
The 23andMe Genetic Health Risk report for Hereditary Hemochromatosis covers the most common forms of the condition caused by variants in the HFE gene. The HFE gene contains instructions for making a protein that helps to regulate the amount of iron absorbed into the body. The two genetic variants used in 23andMe&#8217;s report — C282Y and H63D — cause 91 percent of all HFE-related hereditary hemochromatosis. But, having these two variants doesn’t mean one will develop the condition.
Hemochromatosis tends to develop in older men, and it is most common with men of European ancestry. Women rarely develop the condition. With sometimes-vague symptoms that include fatigue, joint pain, and darkening of the skin, hemochromatosis can be hard to diagnose without genetic testing, such as this. But it is very treatable — often by regular blood draws — and if caught early, lasting damage to the liver, heart or other organs can be prevented.

23andMe Adds New Genetic Health Risk Reports

Yeah, it’s that damn dress again.
If you haven’t been online recently you might have missed it, otherwise you know exactly which striped dress we’re talking about. You know, the one that
You know, the one that <a href="https://www.nytimes.com/2015/02/28/business/a-simple-question-about-a-dress-and-the-world-weighs-in.html" target="_blank" rel="noopener noreferrer">melted the Internet</a>.
So why are we bringing this whole thing up again? It turns out that what colors you see in those stripes has a lot to do with how old you are and where you grew up, according to new research done by scientists here at 23andMe.


The huge amount of interest in this weird debate offered researchers at 23andMe a chance for an instant genetics experiment. A lot of people looked at that dress, but some people see white and gold, while others see blue and black.


Why is that? Do our genes play an obvious role in the difference of how we perceive color?
That’s what we wanted to know.
<div id="attachment_22325" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22325" class="wp-image-22325 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/SathirapongsasutiF-bw-200x300.jpg" alt="SathirapongsasutiF b:w" width="200" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/SathirapongsasutiF-bw-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/SathirapongsasutiF-bw.jpg 576w" sizes="auto, (max-width: 200px) 100vw, 200px" />23andMe computational biologist Fah Sathirapongsasuti, PhD</div>
<a href="https://www.buzzfeed.com/virginiahughes/why-are-people-seeing-different-colors-in-that-damn-dress" target="_blank" rel="noopener noreferrer">Buzzfeed</a> and <a href="https://www.wired.com/2015/02/science-one-agrees-color-dress/" target="_blank" rel="noopener noreferrer">Wired</a> both wrote about how our brains interpret light based on visual signals. The differences we see may be how our brains filter out different parts of the color spectrum. Alternatively, the differing density of our rod and cone cells or the cornea color could make some people see the world a bit more yellow or blue. The question is whether there is a clear biological reason for the difference.
The short answer is that 23andMe researchers didn’t find any obvious genetic association for that difference. We’ll get to some of what we found a little later. First off it’s important to note that 23andMe regularly surveys customers asking them a slew of questions about their health, their traits and even seemingly odd queries about whether they can curl their tongues or do a somersault. When we combine all this information with their genetic information it feeds into a novel research platform that allows our scientists to learn more about the genetic influence on disease, traits and human behavior.
So a few days ago we asked some of our customers who have consented to research about what colors they saw when they looked at that dress. About 25,000 people responded, and this is some of what our researchers learned.
For one, there was no clear genetic association with seeing either a blue and black dress versus seeing a white and gold one, according to Fah Sathirapongsasuti, PhD, a computational biologist here at 23andMe. That doesn’t mean there is no association, it just means that we didn’t find one that met our threshold for a strong association.
We did see a small effect size for a genetic variant in the gene ANO6. While this may or may not be significant, it’s interesting because ANO6 is in the anoctamins gene family, which includes the gene ANO2. The gene ANO2 is involved in light perception, so this might be something that warrants further study. But as we said, the association we saw did not show a big effect. Others who’ve looked at the possible genetic influence of how people perceive the color of the dress also <a href="http://ongenetics.blogspot.de/2015/03/no-simple-genetics-for-thedress-but.html" target="_blank" rel="noopener noreferrer">did not find a strong genetic association</a>, finding, for instance, that identical twins also reported seeing different colors.
While we first looked at genetic associations with different color perceptions, we went on to see if there were other associations related to different phenotypes. The strongest association we found was with age. Our researchers found that the effect of age comes in two phases – for people up to 60 years old and for those who are over 60. According to our data the proportion of those who see white and gold increased up until the age of 60, but after 60 the proportion of those who see white and gold starts to decrease.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22327" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/Age-Effect-300x184.jpg" alt="Age Effect" width="300" height="184" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect-300x184.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect-768x472.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect-1024x629.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect-880x541.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect-1180x725.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Age-Effect.jpg 1360w" sizes="auto, (max-width: 300px) 100vw, 300px" /> We don’t know why that might be, according to Fah. Retinal cells responsible for color perception become less sensitive as we age, which could account for some of what our data show, but it doesn’t explain the different trends, he said.
According to 23andMe’s data at around 20 years of age, customers were split evenly between those who saw a white and gold dress versus those who saw blue and black. But as customers get older the proportion of those who see white and gold increased up until the age of 60 when more than three quarters of those surveyed said they see a white and gold striped dress instead of blue and black one.
This effect is more dramatic in men where the proportion of men seeing white and gold increases by almost 15% around the age of 40. Then, according to our data, after 60 years of age, the percentage of those who see a white and gold dress decreases at a steady rate. People over the age of 70 is the only group that see more blue and black than white and gold. Women, who were between the ages of 20 and 50,   were also slightly more likely to see white and gold. Our researchers also looked at whether other eye conditions – age related macular degeneration, cataracts and red-green color blindness – clearly influenced how color was perceived. Customers with cataracts were about 50 percent more likely to see black and blue instead of white and gold. Those who are color-blind were more likely to see white and gold, and there was not a strong effect with macular degeneration.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22330" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/Childhood-Residence-300x193.jpg" alt="Childhood Residence" width="300" height="193" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence-300x193.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence-768x493.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence-1024x658.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence-880x565.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence-1180x758.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/03/Childhood-Residence.jpg 1230w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The power of 23andMe research platform is that it allows scientists to look across all phenotypes and genotypes we record to find even unexpected associations. For instance, dress color perception appears to be influenced by the type of place you lived in as a child. Fah found that those who grew up in more urban areas saw white and gold at higher proportions than those who grew up in more rural areas.
While results like these are interesting and could fuel multiple follow-on inquiries, this little experiment with the dress is interesting in another way. It’s instructive because it illustrates the complex interaction between both our genetics and environment.

Genetics And That Striped Dress

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-1138" title="fundus" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/fundus-300x222.jpg" width="300" height="222" /> 
Genetics plays a big role in the development of age-related macular degeneration (AMD), one of the leading causes of vision loss among older Americans.
Luckily, there are ways to lower the risk through diet.
Recently the National Institutes of Health slightly<a href="http://www.nei.nih.gov/news/pressreleases/050513.asp"> changed its recommendations</a> regarding a combination of vitamins and minerals recommended to protect against AMD.
About two million Americans have advanced AMD and another eight million are at risk, according to the NIH.
Millions of Americans are already taking high daily doses of vitamins C and E, beta-carotene and the minerals zinc and copper. Earlier studies showed that that formula – known as the Age-Related Eye Disease Study (AREDS) formulation – could significantly cut the risk for AMD.


Now the NIH is recommending replacing the beta-carotene with the carotenoids lutein and zeaxanthin, both found in leafy greens such as kale, spinach and broccoli. This is based on a new study that found that making the change improved the protective power of the formula.


Looking at participants in the study, researchers found that the revised formula reduced the risk of AMD by about 18 percent compared to the previous formula. For those individuals who prior to the study didn’t get a lot of lutein and zeaxanthin in the diet, the change had an even greater beneficial effect, cutting the risk of AMD by as much as 25 percent.

For Your Eyes Only

<img loading="lazy" decoding="async" class="aligncenter wp-image-2804 size-full" title="smoking" src="http://35.88.189.111/wp-content/uploads/2009/02/smoking.jpg" alt="" width="350" height="260" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/smoking.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/02/smoking-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
You probably know that smoking and excessive drinking are bad for you. But did you know that your genetics also factor into how much those vices can impact your health?
Healthy lifestyle choice – like avoiding cigarettes – make you less susceptible to a host to diseases. For instance, non-smokers live, on average, a decade longer than smokers. Genetics aside it just makes a lot of sense to avoid lighting up.
But genetics also plays a role. Your genes – regardless of your health habits – may put you at higher risk for certain diseases associated with smoking and drinking.  That can make the healthy choices you make that much more important.
Your genetic information, when taken together with information about your lifestyle and environment, will give you the most complete picture of your health risks.
But, in a few cases, your genetics can increase the risks of smoking and drinking by much more than either risk factor alone. Heightening the importance of making healthy choices. Here are a few examples.
A variant in a single gene, <a href="http://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency/">alpha-1 antitrypsin</a>, leads to deficiency in a protein that protects fragile lung tissue. This can put one at more risk for emphysema and liver disease. Because smoking can further reduce the levels of the protective protein, it can further increase the risks for lung disease.
Another variant in the ALDH2 gene causes a deficiency in its enzyme product – aldehyde dehydrogenase. Those lacking this enzyme are at increased risk for esophageal cancer, especially for those who smoke or drink.
The magnitude of the combined effect varies from study to study, but the basic finding that these three risk factors synergistically increase the risk of esophageal cancer is definitive.
In the case of smoking, a variant in the CHRNA gene is strongly associated with how many times you light up in an average day. In people with European ancestry, each copy of an A at the single-nucleotide polymorphism (SNP) rs1051730 is associated with smoking one more cigarette per day on average. It’s unclear if the association also holds true for people of African or Asian ancestry.
As for drinking, a number of previous studies found an association between the SNP rs1800497 and alcoholism, with each copy of A at that location increasing a person’s odds of being alcoholic by 1.2 times.
Keep in mind that there are many of other conditions associated with smoking and drinking that are also impacted by your genetics. For instance, if you light up regularly, you’re putting yourself at a higher risk for such things as lung cancer, esophageal cancer, age-related macular degeneration, multiple sclerosis, psoriasis, rheumatoid arthritis, venous thrombosis and coronary heart disease.
Heavy drinking increases your risk for esophageal cancer, colorectal cancer, and atrial fibrillation 
esophageal cancer, colorectal cancer and atrial fibrillation.

Barfly Genetics

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1138" title="fundus" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/fundus.jpg" alt="" width="350" height="260" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/08/fundus.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/08/fundus-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the western world among people over 60.
The two forms of the disease — wet and dry — both cause vision loss by destroying cells in the central portion of the retina.
<h6>Understanding AMD</h6>
In the last few years, progress in understanding AMD has been made thanks in part to the discovery of several common genetic variants, or SNPs, that together explain a large part of the risk for the disease.
Several of the AMD SNP associations have pointed to a role for the immune system in the disease. Now two new reports of genetic associations, published this week in the Proceedings of the National Academy of Sciences, point to a role for another biological pathway in AMD: HDL-cholesterol level regulation.
<h6>New Research</h6>
Two research groups, one led by scientists from <a href="https://dx.doi.org/10.1073/pnas.0912019107" target="_blank" rel="noopener noreferrer">Tufts University and the Massachusetts General Hospital (MGH)</a> and the other led by researchers from the <a href="https://dx.doi.org/10.1073/pnas.0912702107" target="_blank" rel="noopener noreferrer">University Michigan, the University of Pennsylvania and the Mayo Clinic</a>, each studied thousands of people with and without AMD.  All study subjects had European ancestry.
To increase their ability to find genetic variations associated with the disease, the researchers then shared their data and ran additional analyses.
Several variations previously associated with levels of high-density lipoprotein (HDL) cholesterol, the so-called &#8220;good&#8221; cholesterol, showed some association with AMD risk in the combined analysis.
<h6>The Strongest Genetic Association</h6>
The strongest signal was seen with a variant near the LIPC gene.   Each copy of the less common T version of this SNP was associated with 0.82 times odds of AMD compared to people with two copies of the C version.   The LIPC gene encodes the hepatic lipase enzyme, which is key to metabolism of HDL-cholesterol.
&#8220;This LIPC locus may greatly enhance our biologic understanding by opening up another pathway for consideration in the pathogenesis of AMD.   This finding could lead to insights regarding disease progression, ways to modify risk of AMD, and new treatments,&#8221; wrote the authors from Tufts/MGH.
<h6>The Role of Cholesterol</h6>
There has been previous speculation that cholesterol levels might play a role in AMD risk because cholesterol is a component of <a href="https://en.wikipedia.org/wiki/Drusen" target="_blank" rel="noopener noreferrer">drusen</a>, the deposits found in the retinas of people with the condition.
However, there has not been any clear scientific evidence of whether there is a connection.   Among studies in which a connection between cholesterol levels and AMD has been shown, there is disagreement about whether increased cholesterol levels increase or decrease AMD risk.
Adding to the confusion is the fact that among the cholesterol-related genetic variations, there is no clear-cut direction of effect.   Another version of this variant is associated with decreased AMD risk has been associated with increased blood HDL levels.
But for some of the other cholesterol-related SNPs with more modest associations that were identified in these studies, the association was in the opposite direction: the version associated with decreased AMD risk has been linked to lower HDL levels.
&#8220;We suspect these genetic variations found in the cholesterol pathway impact the retina differently from the circulatory system, so cholesterol levels in the blood may not provide meaningful information about AMD risk,&#8221; said Michigan/Penn/Mayo study lead author Anand Swaroop in a press release.
By combining their data, the two research groups also found evidence that a SNP near the TIMP3 and SYN3 genes is associated with AMD.
Each copy of the less common G version of was associated with 0.62 times odds of the condition compared to people with two copies of the A version.
Mutations in TIMP3 have been shown to induce abnormal blood vessel growth, and the gene has previously been linked to Sorsby&#8217;s fundus dystrophy, a condition with many features in common with AMD.
<h6>A Reevaluation</h6>
However, researchers had previously determined that TIMP3 was not linked to AMD.
The newly published results may lead to a reevaluation of this gene&#8217;s importance.
The authors of the Michigan/Penn/Mayo study acknowledge that because the effects of the SNPs identified in the two new studies are small, and the versions associated with decreased risk are rare, neither variant may be that important for prediction of AMD risk in the general population.
But they echo the sentiment of the authors of the Tufts/MGH study that this research may have identified a biological pathway–HDL cholesterol level regulation–that might be exploited for prevention or treatment.
They note that for psoriasis, an <a href="https://en.wikipedia.org/wiki/Ustekinumab" target="_blank" rel="noopener noreferrer">effective treatment</a> that targets the product of the IL23 gene has been developed, even though common variations in this gene have only a small effect on the overall risk for psoriasis.
Note: Effect sizes of the variants taken from Neale et al., authors of the Tufts/MGH study.

SNPwatch: AMD Linked to Yet Another Immune System Gene

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1138" title="fundus" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/fundus.jpg" alt="" width="295" height="219" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/08/fundus.jpg 350w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2008/08/fundus-300x223.jpg 300w" sizes="auto, (max-width: 295px) 100vw, 295px" />
A new treatment for one type of age-related macular degeneration that is currently in clinical trials may have an unintended consequence: it could cause another form of the disease.
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the western world among people over 60. The two forms of the disease — wet and dry —both cause vision loss by destroying cells in the central portion of the retina.
In the last few years, progress in understanding AMD has been made thanks in part to the discovery of several genetic variants linked to both forms of the disease. Yesterday a report published online in the <a href="http://content.nejm.org/cgi/content/full/NEJMoa0802437" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a> described yet another AMD genetic association, this time specific for the dry form of the disease.
The variant is in the gene for toll-like receptor 3 (TLR3), a protein that helps the immune system fight off viruses.
“What TLR3 does in the case of infection is sacrifice an infected cell to protect the neighborhood,” said the study’s senior author Kang Zhang in a statement.

Lab tests in human eye cells and genetically engineered mice found that the T version of the SNP decreases TLR3’s cell killing potential by reducing its activation in response to viral cues. Studies of patients and controls found that version of the SNP also decreases the risk of developing dry AMD.
“This discovery has significant implications for diagnosing the dry form of AMD, which is the most prevalent form. It also allows us to develop new drugs to the treat the dry form of AMD, for which there is currently no treatment,” Zhang said.
Jayakrishna Ambati, another author of the study, plans to start clinical trials testing the effectiveness of TLR3 inhibitors in patients at risk for developing dry AMD next year.
The discovery of the role of TLR3 activation in dry AMD may have come just in time. Several drugs for the treatment of wet AMD currently in clinical trials may actually trigger the protein, thus treating one form of the disease while causing the other.
The new treatments for wet AMD are based on a general method called RNA interference (RNAi) that uses short RNA molecules to interrupt genes. In wet AMD, the goal is to disrupt genes involved in the aberrant blood vessel growth seen in the eyes of patients.
Research from <a href="https://www.ncbi.nlm.nih.gov/pubmed/18368052?ordinalpos=1&#038;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">Ambati’s lab </a>published earlier this year, however, found that RNAi treatments (regardless of their target), activate TLR3. The immune protein confuses the RNA molecules with the genetic material of viruses, its sworn enemies.
People with the another variant that is protective against AMD might still be good candidates for RNAi treatments for wet AMD. Their TLR3 proteins are naturally less reactive. But for the 43% of people of European ancestry with two copies of the more deliterious variant, these treatments could do more harm than good.
“Ironically, in some individuals, using RNAi to cure wet AMD might actually increase the risk for blindness from dry AMD,” Zhang said.

Genetic Link to Dry-type Macular Degeneration Could Spell Trouble For Experimental Wet-type Treatment

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of researching, evaluating, and <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Alison4-200x300.jpg" alt="Alison4" class="alignright size-medium wp-image-21584" width="200" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-768x1152.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-683x1024.jpg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-587x880.jpg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-787x1180.jpg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Alison4-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />developing the health-related information that is reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. 
&#8220;What we currently know about the genotype-phenotype link in terms of human health and disease is only the tip of a very huge iceberg.&#8221; 
What were you researching before you came to 23andMe? 
The common thread of my academic research was using DNA sequences from different populations and different species to help understand how they are related; this field is called molecular phylogenetics. During my master&#8217;s program I used molecular phylogenies to study the population genetics of Hawaiian freshwater fishes, and during my PhD work, I studied the evolutionary relationships among modern bird lineages. Interestingly, I used similar analytical techniques to the ones we use here at 23andMe to figure out our customers&#8217; ancestry information, but I used them for fish and birds, not humans &#8212; when it comes to DNA, the same analytical principles can apply to any group of organisms. One huge difference is that my data sets were much much smaller! Back when I started, most people were only using mitochondrial DNA sequences to build evolutionary trees of animals. I was able to amplify and sequence a nuclear gene that no one had ever tried before and showed that it, too, had utility for studying evolutionary relationships.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Alison Chubb, PhD, 
Health Content Scientist 
From: Olmsted Falls, Ohio 
Education: 
BA, English, Princeton University 
MS, Conservation Biology, University of Minnesota 
PhD, Integrative Biology, UC Berkeley 
Fun Fact: Alison loves bird watching and this spring had chickadees, towhees, juncos, and wrens all nesting in her backyard. She also rescued and raised a baby hummingbird for a few days before releasing it back into the wild.</div>
Why are you excited about genetics? 
I&#8217;ve always wanted to delve more deeply into the genotype-phenotype link, and the advent of whole genome genotyping and sequencing has really accelerated our ability to do that as scientists, especially in the realm of health and disease. Being married to a doctor and having a child with a congenital heart defect (successfully repaired) has brought me much closer to the medical world than I ever would have expected, and has increased my curiosity about how our genes influence our own health. When I learned that 23andMe&#8217;s goal was to help elucidate and communicate the link between our health and genetics on a really huge scale, I knew it was something I wanted to be a part of.
I&#8217;ve always loved reading scientific literature, but the hectic schedule of grad school doesn’t allow you time to read much outside your field. At 23andMe, I get to look at a wide breadth of literature and think about how to communicate those concepts to our customers &#8211; that’s an incredibly inspiring challenge.
How do you decide what to include in 23andMe reports? 
In my role at 23andMe, I look at everything through the lens of clinical validation. That means that our team takes a genetic variant thought to be pathogenic (capable of causing disease) and we try to find scientific papers to support or refute that claim. In general, we look for population studies to show that a case population (with the disease) has the genetic variant far more often than the control population (without the disease), or that both the variant and the disease co-segregate, or show up together, in family-level studies.
You’ll see links to scientific literature in our health reports, and our goal is that those papers show a significant effect size, are replicated, functionally relevant, and present convincing evidence that particular variants are strongly associated with particular conditions.
Tell us about a recent breakthrough in technology that you think will have a big impact. 
Next Generation Sequencing is a breakthrough that will change the world of clinical genetics. Being able to sequence patients&#8217; genomes faster and less expensively will hopefully accelerate diagnoses, treatments, and cures. The big challenge, of course, is parsing all that data and figuring out how to separate the wheat from the chaff in terms of variants that matter (are pathogenic) and those that don&#8217;t. Data generation is no longer the obstacle &#8212; but data analysis on a mammoth scale is.
Did you learn anything interesting from your 23andMe results? Did you make any changes as a result of taking the test? 
One fascinating thing about the 23andMe health results (for customers who joined before November 22d, 2013) is that you can keep coming back to them again and again and learn something new. This is, in part, because your own health status, or that of a family member&#8217;s, can change over time and certain results may become more relevant.
For example, when I first received my own 23andMe results I didn&#8217;t pay much attention to the fact that both my husband and I are considered &#8220;rapid metabolizers&#8221; of a particular class of drugs known as proton pump inhibitors (PPIs), which are used to reduce stomach acid. &#8220;Rapid metabolizer&#8221; just means that our bodies are likely to break down the drug fast enough so that standard doses may not always be enough to improve symptoms like heartburn or acid reflux. Neither my husband nor I have problems with stomach acid, so at the time, I didn&#8217;t give this result a second thought.
Fast forward to 2014, and our son has recently developed symptoms of reflux and has been prescribed a PPI to take every day. Based on our genetic results, we know that he is also a &#8220;rapid metabolizer,&#8221; even though he doesn&#8217;t have his own 23andMe account. Consequently, we are paying close attention to whether the drug seems to be improving his symptoms or whether we should talk to the doctor about possibly adjusting the dose or switching medications. The jury is still out. But it&#8217;s great to have some extra information that can help inform our approach to this drug.
<h6>What&#8217;s one thing the average consumer should know about genetics?</h6>

Consumers should understand that we still know very little about the interplay of genes, lifestyle, and environment for most of the most common conditions. Those include serious conditions that impact us personally and as a society such as diabetes, heart disease, and stroke, for example. What we currently know about the genotype-phenotype link in terms of human health and disease is only the tip of a very huge iceberg.

A Conversation with Health Content Scientist Alison Chubb

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which genetic<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Rob2-200x300.jpg" alt="Rob2" class="alignright wp-image-21583" width="300" height="450" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-768x1152.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-683x1024.jpg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-587x880.jpg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-787x1180.jpg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Rob2-scaled.jpg 1707w" sizes="auto, (max-width: 300px) 100vw, 300px" /> associations will be reported to customers. They have a rigorous process. Along with combing through scientific literature, they vet genetic information and published scientific findings. They ensure that all of that meets our standards for inclusion, and that directly impacts what you see when you log into your 23andMe account. 

“You can store so much information with a four-letter alphabet, and I’ve always been impressed and amazed by that.”
<h6>
What were you researching/doing before you came to 23andMe? </h6>

My doctoral research at The University of Texas Southwestern Medical Center focused on finding genetic Achilles Heels in non-small cell lung cancers with specific cancer-causing mutations so that we could help develop more targeted cancer therapies, specifically for pancreatic, lung and colorectal cancers.

<h6>
Tell us about one of your interesting findings at 23andMe, or in your previous scientific life.</h6>

During my graduate work at UT Southwestern, my lab discovered that manipulating the levels of small regulatory RNA molecules, called microRNAs could change how sensitive lung cancer cells were to commonly used cancer drugs.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Robert Borkowski, PhD, 
Health Content Scientist 
From: Connecticut 
Education: 
BA, Biochemistry, Wheaton College 
PhD, Genetics and Development, University of Texas Southwestern Medical Center 
Fun Fact: Robert was at the last ever Hartford Whalers hockey game in Hartford.</div>
<h6>
Why are you excited about genetics? </h6>

You can store so much information with a four-letter alphabet, and I’ve always been impressed and amazed by that. In recent years, the scientific community has shed light on how our genes influence our health and development, but this is still just the tip of the iceberg. There are lots of opportunities to integrate genetics into people&#8217;s everyday decisions, and it&#8217;s really exciting to think about what&#8217;s left on both of those fronts.


I was attracted to 23andMe after a talk I heard [23andMe CEO] Anne Wojcicki give a talk at the Broad Institute. She explained how 23andMe was on a mission to take genetics and turn it into something useful for people. After my experience in grad school, I knew I wanted to do something consumer-focused. 23andMe seemed like the natural place to pursue that goal.

<h6>
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.</h6>

I believe CRISPR has the potential to accelerate research into the function of genetic variants and mutations. This type of genetic engineering could allow scientists to change what’s in a piece of DNA in a specific and targeted way. With CRISPR, researchers can manipulate DNA more quickly than historical methods. This would allow them to quickly see if they’re targeting appropriately. If they’re then able to see what a specific mutation does, there are implications for both conventional and gene therapies.
 
<h6> 
Did you learn anything interesting from your 23andMe results?</h6>

I found out that I&#8217;m a carrier of the Factor V Leiden mutation. That means I have a risk factor for deep vein thrombosis. That was a big part of why I switched to a standing desk. I also bought an activity monitor to remind me to not sit still for too long!

<h6>
What&#8217;s one thing the average consumer should know about genetics? </h6>

Genetics is complicated! What&#8217;s hard-coded in the DNA is just the starting point. It&#8217;s important to remember that anything from the way the gene is processed to the person&#8217;s surroundings can influence what a gene does.

A Conversation with Health Content Scientist Robert Borkowski

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Bertram2-200x300.jpg" alt="Bertram2" class="alignright wp-image-21582" width="290" height="435" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-768x1152.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-683x1024.jpg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-587x880.jpg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-787x1180.jpg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bertram2-scaled.jpg 1707w" sizes="auto, (max-width: 290px) 100vw, 290px" />genetic associations will be reported to customers. 
 

“Science is all around us and I love looking at the world through its lens.”
<h6>What were you researching/doing before you came to 23andMe? </h6>

My PhD work focused on improving cancer detection and personalizing treatment approaches. I helped develop a novel magnetic resonance imaging (MRI) technique that enables real-time measurements of tissue metabolism in patients.
In many ways the metabolism of cancer cells is distinct from that of normal cells. Furthermore, the metabolism of aggressive, metastatic cancer cells also differs from that of benign, localized cancers. The MRI techniques I helped develop are used to differentiate benign tumors from metastatic ones. With this technique, physicians will be able to personalize treatment approaches and monitor tumor regression. 


<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Bertram Koelsch, PhD, Health Content Scientist 
From: Longmont, CO 
Education: 
BS, Chemical Engineering, University of Notre Dame 
MS, Biomedical Engineering, ETH Zurich 
PhD, Bioengineering, UC Berkeley and UCSF 
Fun Fact: Bertram has recently taken an interest in studying the science of cooking. For example, he’s learned that the Maillard reaction produces various chemical compounds that both contribute to flavor and brown color when you cook foods at high temperatures.</div>
<h6>
Why are you excited about genetics?</h6>

I&#8217;m excited about the role that genetics plays in understanding ourselves and our health. The broad use of genetic screening is changing society&#8217;s approach to health. Traditionally, doctors could only reactively treat diseases. But, as genetic screening becomes readily available and as everyone learns about their genetic risks for disease, they can take proactive steps to prevent or manage them.


Thinking even further into the future, epigenetics will also play a prominent role in society&#8217;s ability to manage health and treat diseases. This growing field studies how individual genes can be turned on and off. We can envision a time when treatments will be able to target specific genes, regulate the expression of the associated proteins through epigenetic modifications and thereby cure a disease.

<h6>
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.</h6>

The rapid decrease in the cost of gene sequencing is allowing scientists to focus on smaller and more targeted genetic studies. This means that small groups of people can unlock the role that genetics plays in their lives.


One example is a recent paper in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3067.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a> that caught my attention, in part because I enjoy mountaineering. In the paper, Lorenzo et al. discuss a newly discovered genetic mutation that improves that ability of Tibetans to live at high altitudes, often upwards of 10,000 feet. As the typical low-lander goes to higher altitudes and encounters air with a lower oxygen concentration, their body responds in several ways to supply tissue with sufficient oxygen. One response may be an increase in the number of red blood cells in the blood, which can lead to a form of chronic altitude sickness. But, the mutation found in the Tibetan&#8217;s protects them from developing red blood cell counts that are too high by altering their body&#8217;s response to low oxygen levels in their tissue.
<h6>Did you learn anything interesting from your 23andMe results?</h6>

My 23andMe results brought genetics alive for me and allowed me to see how it influenced my daily life. For example, I was always perplexed by the ability of my wife to drink an espresso immediately before bed and still sleep soundly! On the few occasions that I tried this, I would lay awake in bed for hours. Surely enough, our 23andMe results showed that we have different abilities to metabolize caffeine &#8211; she metabolized it rapidly while I do slowly.

<h6>
What&#8217;s one thing the average consumer should know about genetics?</h6>

It&#8217;s not &#8220;nature vs. nurture,&#8221; but rather &#8220;nature and nurture.&#8221; Our genetic makeup is only part of the equation that defines us. Our environment and lifestyles also contribute to who we are and who we will become. Thus, knowing our genetic risks for developing a certain health condition is not worrisome, but rather empowers us to mitigate our non-genetic risks in a more targeted fashion.

A Conversation with Health Product Scientist Bertram Koelsch

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Sheel1-e1411418357530-211x300.jpg" alt="IMG_0529" class="alignright size-medium wp-image-21580" width="211" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530-211x300.jpg 211w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530-768x1090.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530-722x1024.jpg 722w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530-620x880.jpg 620w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530-831x1180.jpg 831w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Sheel1-e1411418357530.jpg 1634w" sizes="auto, (max-width: 211px) 100vw, 211px" />content curation team. This team of 23andMe scientists has the unique job of determining which genetic associations will be reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. 
“Genetic information is becoming available on a scale not really seen in other places in biology.”
<h6>What were you researching before you joined 23andMe?</h6>
Prior to 23andMe, I worked in UCSF’s Weiner Lab, which is a cell biology lab that studies neutrophil chemotaxis. This is the process where a neutrophil, a type of white blood cell, moves toward a chemical cue – in this case, waste products from bacteria. It&#8217;s an impressive feat of signal processing. These cells have to be able to detect weak chemical cues in very noisy environments. In the lab, I spent a lot of time tracking cells and the movement of proteins within the cell using a fluorescence microscope.
Even though we were studying very basic movements, this process has implications in certain diseases and conditions. I was drawn to the kind of research where you eventually see an application for what you’re working on, and that’s one reason 23andMe was appealing to me. Also toward the end of my Ph.D. process, genetic data started to become available at a scale that wasn’t previously possible, and I knew I wanted to work with a company that was using large volumes of genomic data in new ways.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Sheel Dandekar, Ph.D. Health Content Scientist 
From: New Hampshire 
Education: 
BS, Physics at MIT 
PhD, Biophysics at UC, San Francisco 
Fun Fact: I spent 2.5 years of grad school without Internet or TV at home. It started as laziness after moving to a new apartment, but I quickly grew to like the feeling of being “unplugged” when I came home from lab.</div>
<h6>Why are you excited about genetics?</h6>
I’m excited about the falling costs and amount of genetic data that’s becoming becoming available on a scale not really seen in other places in biology. While you do see this kind of data and analysis in physics, that feels a lot more distant from everyday experiences.
I’m also intrigued by the idea of finding rare individuals who have genetic mutations that can give insight into possible mechanisms of disease, and even potential targets for developing drugs. A lot of big scientific discoveries happen because we find a rare person with a unique phenotype, typically these are individuals with a disease, but sometimes they include “superhumans” who have some unique advantage. For example, there are people with a specific genetic mutation that makes them unable to feel pain in peripheral nervous system. That’s become a big target for drug companies to develop painkillers with fewer side effects.
<h6>Tell us about a recent breakthrough in genetics research that you think will have a big impact. </h6>
Recent technologies for genome editing, such as CRISPR-Cas9, are particularly exciting. Genome sequencing costs have been falling in a well-publicized and much deserved manner, but being able to read DNA is only half the battle.
Genome editing is interesting right now because so far we’ve just been observing what&#8217;s been made in nature. Even if all ~7 billion people were sequenced, only a limited set of mutations would show up. But with genome editing, you can make a specific mutation and test hypotheses about what causes different diseases and conditions. Someday this technology could be used to develop cures.
<h6>What&#8217;s one thing the average consumer should know about genetics?</h6>
It’s important to know that genetics are only one part of what shapes the way we are. Environmental factors can play a much larger role for some conditions, and so a genetic result should be put into context by how much of the effect is due to those genetic factors.
<h6>What’s challenging about your job?</h6>
At 23andMe we’re very focused on finding the kind of information that’s useful and interesting to consumers. Right now, the format in which that data exists is very messy because scientists report and share information in lots of different ways. Our team is responsible for taking the data from all these different places, in different technologies and formats, and translating it for the 23andMe customers. It’s challenging to filter through the science and prioritize what’s important and interesting.
<h6>Did you learn anything surprising from your 23andMe results?</h6>
One of the most interesting genetic results I received was from a preliminary report that predicted I’d be good at avoiding errors.

A Conversation With Health Content Scientist Sheel Dandekar

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/09/Shirley--200x300.jpg" alt="Shirley" class="alignright size-medium wp-image-21570" width="200" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--768x1152.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--683x1024.jpg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--587x880.jpg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--787x1180.jpg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Shirley--scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />researching, evaluating, and developing the health-related information that is reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. As director of science content and curation, Shirley manages that team of scientists. 
“DNA is a history of all the life on the planet that led us to this point.”


What were you researching before you came to 23andMe?

I was researching computational methods for predicting protein function. The human genome has instructions for making about 20,000 proteins but we only know what a fraction of those proteins actually do. Running experiments with live proteins to figure that out is complicated, expensive, and time intensive. Some researchers have been trying to predict what proteins do based on other information that we already have, like the sequence of the protein or its 3D structure. My research focused on distilling structural elements of proteins into data points and trying to learn patterns of what certain types of functions &#8220;look&#8221; like. Given enough examples of proteins that can bind calcium, can we recognize calcium-binding sites in other proteins? The better we can make computational tools like this, the faster we can determine what proteins do and the better we can focus downstream research in areas like drug development. 


<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Shirley Wu, PhD Director of Science Content and Curation

From: New Jersey

Education:

BA, Computational Biology, Brown University

PhD, Biomedical Informatics, Stanford

Fun Fact: Shirley played competitive Ultimate Frisbee, which included Junior Worlds, College, and Club championship titles.
</div>
Why are you excited about genetics?

Genetics is universal to all living things. At the same time, it&#8217;s responsible for the remarkable amount of diversity on this planet. It&#8217;s fascinating to think about how our DNA is a history of the life that came before us. Genetics is also a really powerful tool for understanding our present world and for solving important problems in health and food production.
I was attracted to 23andMe because I’m interested in democratizing science and making it accessible to consumers. I like to think about what kinds of research we can translate for our customers &#8211; research we’re doing in-house and external research that’s making connections between DNA and health. We want to look at those connections and share what’s interesting and valuable.


Tell us about a recent breakthrough in technology that you think will have a big impact on the industry.

I’m interested in what’s happening with activity tracking devices and the increasingly common collection of data by consumers. People are currently gathering data on a scale that’s much broader than ever before, and that expands the potential for what researchers will be able to learn.
It won&#8217;t be easy to translate this data into knowledge that can improve health, but greater access to data and improved methods for analysis will allow more people to participate and experiment. Historically, medical science has also focused on populations, rather than individuals, but with new ways of gathering and thinking about data we may be able to &#8220;study&#8221; individuals over time and learn enough about the factors that affect them to benefit them in their lifetime.


Tell us about one of your interesting findings at 23andMe. 

23andMe conducted the largest genome-wide association study (GWAS) of cilantro taste preference where we compared genetic data from individuals with European ancestry who said they liked fresh cilantro to those who detect a soapy taste. We found a genetic variant near the gene OR6A2 associated with thinking cilantro tasted like soap.
It’s interesting to look at something that’s so polarizing and find that there’s a genetic connection related to olfactory receptors. This research in particular, is a good example of a question that other researchers aren’t studying – a list that includes things like how flexible you are, how you smell and other things that could have an impact on your health and well being.
At 23andMe, we can look at questions like this and do research that no one else can do because our large database and platform for research lets us quickly see if there’s an association without having to write a new protocol, recruit participants, analyze research and then do it all again to ask a marginally different question. We can change the course of our research in real-time and look at lots of associations that help us explain why humans are the way we are.
Did you learn anything interesting from your 23andMe results? Did you make any changes as a result of taking the test?

I learned that I have one copy of the alcohol flush gene, which I was able to trace to my father. It was fun to see how inherited traits play out in real life.


What&#8217;s one thing the average consumer should know about genetics?

It’s useful for people to understand the concept of inheritance. We get half of our DNA from our mom and half from our dad. Those halves are two copies of the same thing, so we get a full set of chromosomes from each parent, and the slight differences in how those halves are passed down is what leads to the variation between people. While your siblings also inherit half of their DNA from each parent, they don’t inherit the exact same halves that you did (unless you’re identical twins), so brothers and sisters share about 50 percent of their DNA.

Talking 23andMe’s Director of Science Content and Curation

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe scientists has the unique job of determining which genetic associations will be reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. <img loading="lazy" decoding="async" class="alignright wp-image-21548 size-medium" src="http://35.88.189.111/wp-content/uploads/2014/09/Bethann-Hromatka-2-254x300.jpg" alt="" width="254" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bethann-Hromatka-2-254x300.jpg 254w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bethann-Hromatka-2-768x909.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bethann-Hromatka-2-866x1024.jpg 866w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bethann-Hromatka-2-744x880.jpg 744w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/09/Bethann-Hromatka-2-997x1180.jpg 997w" sizes="auto, (max-width: 254px) 100vw, 254px" />
“Our job is to differentiate the real data from the noise.”
Bethann Hromatka, Ph.D. is a health content manager at 23andMe. Previously, she double-majored in Biology and Spanish at the University of Oregon, where she started her career as a bench researcher studying maize genetics. After completing her Bachelor of Arts, Bethann researched RNA splicing, yeast genetics and Candida albicans host-pathogen interactions (the yeast that causes yeast infections). She completed her Ph.D. at University of California, San Francisco in reproductive biology. There she studied the development of the human placenta and pregnancy complications, including placental malaria. 
In her current role, Bethann helps manage the content curation process, developing the reports that consumers will see on the website and providing documentation as part of the FDA submission process.
<h6>What were you researching before you came to 23andMe? </h6>
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Bethann Hromatka, PhD Health Content Scientist 
From: Stillwater, Minnesota 
Education: 
BA, Biology and Spanish, University of Oregon 
PhD, Reproductive Biology, UC, San Francisco 
Fun Fact: Working mother of infant twins</div>
Most recently I researched malaria infection during pregnancy and glycosylation during the development of the human placenta. I was a bench researcher for more than 10+ years, which included time spent isolating and analyzing DNA, RNA and proteins, as well as dissecting human placental tissue and growing human cells and malaria.
<h6> 
How does your previous experience relate to what you do at 23andMe?</h6>
I have a broad research background, from studying maize and yeast, to reproduction and infectious diseases. Most of what I’ve worked on has been human-based research, and therefore I had a broad view of human disease, which is very closely tied to what we do at 23andMe.
Part of the job of any Ph.D. student is to stay on top of scientific literature as it relates to your work. Those same analytical reasoning skills apply to writing 23andMe’s health report content. There’s often a flood of research studies and we have to decide what’s relevant and what’s not by critically evaluating the most recent literature. In that way, our job is to differentiate the real data from the noise. In doing so, we’re setting the standard for aggregating research.
<h6>
Why are you excited about genetics?</h6>
Genetics is fundamental to human existence and touches our lives in so many ways. It explains a lot about why we act and look a certain way, and plays a big role in helping us stay healthy or increasing our risk for disease.
<h6>Tell us about one of your interesting findings at 23andMe. </h6>
It’s estimated that up to 70 percent of a person’s risk for motion sickness is due to genetics, but the genetics of motion sickness was traditionally poorly understood. At ASHG 2012, I presented results from a genetic study of more than 80,000 23andMe customers who were surveyed about motion sickness. The analysis identified 35 genetic associations with motion sickness that fall into a few different biological categories. Some genetic variants are involved in development, including development of the eye and ear. Other variants are involved in neurological processes as well as glucose and insulin regulation.
<h6>Tell us about a recent breakthrough in genetics research that you think will have a big impact.</h6>
I’m interested in the new fetal DNA blood-based tests for trisomies. With this kind of test, most pregnant women no longer need to undergo invasive and scary testing (e.g., chorionic villus sampling and amniocentesis) for Down syndrome and other trisomies.
<h6>What’s something interesting you learned from your 23andMe results?</h6>
Through testing with 23andMe, I learned that I’d inherited two mutations for hereditary hemochromatosis, also known as iron storage disease. While my particular combination of mutations only posed a slight risk for developing iron overload, I decided to share the information with my physician to see if follow-up testing was warranted. In the end, I made lifestyle changes to push my iron markers into the healthy range, and I’ve also talked to my family about their risk for developing the condition.
<h6>What&#8217;s one thing the average consumer should know about genetics?</h6>
Knowing about your genetics can help you be more proactive about staying healthy.

A Conversation with Health Content Manager Bethann Hromatka

This is the first in an occasional series of profiles introducing you to the people behind 23andMe’s content curation team. This team of 23andMe <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/08/Robin-Smith-Photo-200x300.jpg" alt="Robin Smith Photo" class="alignright wp-image-21508" width="300" height="449" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/08/Robin-Smith-Photo-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2014/08/Robin-Smith-Photo.jpg 534w" sizes="auto, (max-width: 300px) 100vw, 300px" />scientists has the unique job of determining which genetic associations will be reported to customers. Their rigorous process of combing through scientific literature, vetting genetic information and ensuring that published scientific findings meet our standards for inclusion, directly impacts what you see when you log into your 23andMe account. 
&#8220;The genome is vast, complex, and full of wonders waiting to be revealed.&#8221;

<h6>
How did you get into the field of genetics?</h6>

As a child I was always fascinated by stories of outer space, and thought my calling would be to design spaceships that would go to other planets. I enrolled in a program named &#8220;Engineering Science&#8221; at the University of Toronto that focuses on specialized engineering disciplines.
About midway through my second year I realized that Fluid Mechanics and Robotics were not nearly as fun as a class where we created beating cardiomyocytes out of stem cells, and the rest was history. I followed this up with a PhD in Neuroscience from the University of Miami, where I was permitted to tinker at the lab bench but also write the odd computer program. My thesis work centered on genetic mechanisms that allow peripheral nerves (e.g. in your arm) to grow back in contrast to central nerves (e.g. in your spinal cord), which cannot. 


<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Robin Smith, PhD Health Content Scientist

From: Toronto, Canada

Education:

BS: Biomedical Engineering,University of Toronto

PhD: Neuroscience from the University of Miami

Post-doc: UCSF in the lab of Nadav Ahituv

Fun Fact: After Graduate School Robin took a year off to help produce an indie feature film, ending up with his first (but hopefully not last) IMDB credit.
</div>
&nbsp;
<h6>
What were you researching/doing before you came to 23andMe? </h6>

After my PhD I did a postdoctoral fellowship at UCSF in the lab of Nadav Ahituv. We were interested in the 98 percent of the genome that doesn&#8217;t code for genes, so called DNA &#8220;dark matter&#8221;. It turns out that these regions of DNA are very important for telling genes when, where and how much to turn on to produce a living, breathing organism out of a single cell. My research focused on breaking apart these regions of DNA to figure out how they work.

<h6>
Why are you excited about genetics and 23andMe?</h6>

So much about who we are and where we come from is wrapped up in this little ball of DNA that we carry about in (almost) every single one of our cells. It&#8217;s right there, glaring at us; and thanks to modern science, now extremely accessible. It&#8217;s like someone dropped a big puzzle in front of you that has an amazing image embedded within it. All you have to do is figure out how to put it together.
At 23andMe, we have the unique opportunity to be able to translate science to everyone &#8212; a lot of people just aren’t aware of what’s out there. Being able to work with one of the biggest databases of genetic information in the world is also very appealing. It’s allowed me to broaden my knowledge set about how genetics impact health and ancestry.

<h6>
Tell us about one of your interesting findings at 23andMe, or in your previous scientific life. </h6>

In the past, determining whether a piece of dark matter DNA regulates gene expression required a series of lengthy procedures. My time at UCSF coincided with an advance in technology that allowed us to test thousands of such DNA pieces at the same time. My research, which was later published in the journal Nature Genetics, centered on the design of synthetic DNA sequences that mimicked natural DNA dark matter in an attempt to crack the &#8220;regulatory code&#8221;. We discovered several interesting features of the code that operates in liver cells, and that it resembles a grammar of sorts.

<h6>
Tell us about a recent breakthrough in genetics research that you think will have a big impact on the industry.</h6>

We seem to be at an inflection point where advances in Next-Generation Sequencing put it in reach of the consumer. I&#8217;m looking forward to the day when we all have our full, sequenced genomes in our pockets (or safe in the cloud). The implications for health and ancestry are immense: imagine intricate knowledge about why your sense of smell is different that your partner&#8217;s, or being able to trace your ancestry back to a particular village. I think the best discoveries are out there waiting to be found.
<h6>
Did you learn anything interesting from your 23andMe results? Did you make any changes as a result of taking the test?</h6>

I&#8217;ve learned a lot about the genetics of Hemochromatosis. A lot of our customers (including my family) have variants in the HFE gene, but only certain combinations lead to a risk for iron overload. I&#8217;m a carrier for H63D, which originally concerned me, but reading through the 23andMe report and also seeing all the various mutations that appeared in my family was helpful in putting this into perspective. 
 
<h6> 
What&#8217;s one thing the average consumer should know about genetics?</h6>

There&#8217;s an amazing wealth of knowledge that scientists have built up over the years about how genetics influence traits and disease, but really we&#8217;ve just seen the tip of the iceberg. The genome is vast, complex, and full of wonders waiting to be revealed.

curation

A Big Step Forward for Patient Safety

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

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

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

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

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

New Historical Matches Could Connect You to the Medieval Iberian Site of Las Gobas

A Major Update to Ancestry Composition

A Big Step Forward for Patient Safety

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

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

23andMe Research Institute Attending ASHG 2025

New Genetic Insights Into Cannabis Use

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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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

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

A Major Leap Forward in Understanding the Genetics of OCD

Clear-Eyed About A Risk for AMD

23andMe Adds New Genetic Health Risk Reports

Genetics And That Striped Dress

For Your Eyes Only

Barfly Genetics

More Genetic Variations Linked to AMD, a Leading Cause of Vision Loss

SNPwatch: AMD Linked to Yet Another Immune System Gene

Genetic Link to Dry-type Macular Degeneration Could Spell Trouble For Experimental Wet-type Treatment

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

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

New Historical Matches Could Connect You to the Medieval Iberian Site of Las Gobas

A Major Update to Ancestry Composition

A Conversation with Health Content Scientist Alison Chubb

A Conversation with Health Content Scientist Robert Borkowski

A Conversation with Health Product Scientist Bertram Koelsch

A Conversation With Health Content Scientist Sheel Dandekar

Talking 23andMe’s Director of Science Content and Curation

A Conversation with Health Content Manager Bethann Hromatka

A Conversation With Health Content Scientist Robin Smith

Stay in the know.