<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

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



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



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

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

by Destiny Gordon&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;



We often blame everything on not getting enough sleep—feeling foggy, moody, exhausted, or just off. And while sleep quantity matters, what many of us don’t realize is that it’s not only about how much sleep we get—but when we get it. At the core of it all is your body’s internal clock, known as your circadian rhythm. This quiet, biological timekeeper is constantly at work, regulating everything from <a href="https://pubmed.ncbi.nlm.nih.gov/28165421/" target="_blank" rel="noreferrer noopener">hormone release and metabolism</a> to <a href="https://www.health.harvard.edu/blog/why-your-sleep-and-wake-cycles-affect-your-mood-2020051319792" target="_blank" rel="noreferrer noopener">mood and energy</a>. And when it falls out of sync—whether due to shift work, late nights, excessive screen time, or simply inconsistent routines—your health can start to feel out of balance in ways that go far beyond basic tiredness.



<h2 class="wp-block-heading" id="h-what-is-circadian-rhythm">What is circadian rhythm?</h2>



<figure class="wp-block-image size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="683" src="http://35.88.189.111/wp-content/uploads/2017/10/iStock-640228980-1024x683.jpg" alt="" class="wp-image-25757" style="width:448px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980-1024x683.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980-300x200.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980-768x513.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980-880x587.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980-1180x788.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/10/iStock-640228980.jpg 1254w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Circadian rhythm is the natural cycle your body goes through in a 24-hour period. <a href="https://pubmed.ncbi.nlm.nih.gov/36028773/" target="_blank" rel="noreferrer noopener">Genetics</a> plays a key role in determining circadian rhythm. In fact, the researchers who first uncovered the genetic basis of circadian rhythm won the <a href="https://blog.23andme.com/articles/nobel-worthy-sleep-science" target="_blank" rel="noreferrer noopener">Nobel Prize in Physiology or Medicine in 2017</a>. Your circadian rhythm <a href="https://nigms.nih.gov/education/fact-sheets/Pages/circadian-rhythms" target="_blank" rel="noreferrer noopener">influences</a> when your brain is sharp, when your body digests food efficiently, and when it needs deep rest. And for women, the interaction between daily circadian rhythms and monthly hormone fluctuations creates <a href="https://pubmed.ncbi.nlm.nih.gov/35101914/" target="_blank" rel="noreferrer noopener">a unique layer of complexity</a>. At different points in the <a href="https://pubmed.ncbi.nlm.nih.gov/17383933/" target="_blank" rel="noreferrer noopener">menstrual cycle</a>, shifts in estrogen and progesterone can make your body more sensitive to sleep disruption, stress, and energy dips. So if your daily rhythm is already out of sync, those hormonal shifts can hit harder—amplifying symptoms like fatigue, mood swings, poor focus, or disrupted sleep. It’s a compounding effect that makes it even more important to stay in rhythm.



<h2 class="wp-block-heading" id="h-what-happens-when-you-re-misaligned-to-your-circadian-rhythm">What happens when you&#8217;re misaligned to your circadian rhythm?</h2>



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="691" height="1024" src="http://35.88.189.111/wp-content/uploads/2025/06/circadian-rhythm-disruption-691x1024.png" alt="" class="wp-image-34017" style="width:219px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/circadian-rhythm-disruption-691x1024.png 691w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/circadian-rhythm-disruption-203x300.png 203w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/circadian-rhythm-disruption-594x880.png 594w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/06/circadian-rhythm-disruption.png 748w" sizes="auto, (max-width: 691px) 100vw, 691px" /></figure>



Research has shown that <a href="https://www.nhlbi.nih.gov/health/circadian-rhythm-disorders/causes" target="_blank" rel="noreferrer noopener">disruptions to this internal rhythm</a>—like being awake when your body naturally wants to be asleep, sleeping at inconsistent times due to shift work, or missing natural light cues—can throw off the timing of critical biological processes. This circadian misalignment can increase the <a href="https://pubmed.ncbi.nlm.nih.gov/38564856/" target="_blank" rel="noreferrer noopener">risk of real, long-term health issues for</a> both men and women. These shifts are linked to <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4868418/" target="_blank" rel="noreferrer noopener">mood disorders</a> like anxiety and depression, <a href="https://pubmed.ncbi.nlm.nih.gov/21270661/" target="_blank" rel="noreferrer noopener">weight gain</a>, <a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC6167165/" target="_blank" rel="noreferrer noopener">insulin resistance</a>, <a href="https://www.nature.com/articles/s44325-024-00024-8" target="_blank" rel="noreferrer noopener">cardiovascular issues</a>, <a href="https://www.sciencedirect.com/science/article/abs/pii/S1389945706006216" target="_blank" rel="noreferrer noopener">irregular menstrual cycle</a>, <a href="https://www.sciencedirect.com/science/article/abs/pii/S1556407X07001191" target="_blank" rel="noreferrer noopener">and even fertility challenges</a>. And because these symptoms often start subtly, it’s easy to miss the connection until the effects become harder to ignore.&nbsp;



<h2 class="wp-block-heading" id="h-what-can-we-do-to-keep-our-lives-aligned-to-our-circadian-rhythm">What can we do to keep our lives aligned to our circadian rhythm?</h2>



The tricky part? Circadian disruption often hides in plain sight. It doesn’t always feel like a big, dramatic problem. It can look like staying up a little too late, skipping meals, waking up at inconsistent times, or scrolling in bed just a bit too long. These small habits may not seem like much, but if they happen repeatedly over time, they chip away at your body’s natural rhythm.&nbsp;



The good news? Once you start to tune in, you can make <a href="https://my.clevelandclinic.org/health/articles/circadian-rhythm" target="_blank" rel="noreferrer noopener">small, manageable changes</a> to help bring your body back into sync. Things like going to bed and waking up at the same time every day (yes, even on weekends), getting exposure to natural light in the morning, limiting caffeine later in the day, and avoiding screens at least an hour before bed can all support a healthier rhythm. It’s not about being perfect—it’s about creating enough consistency that your body knows when to rise, when to rest, and everything in between.&nbsp;



Because when your body runs in rhythm, everything works better. Your mind feels clearer. Your energy lasts longer. Your health feels like it’s working with you, not against you. So maybe it’s not just about getting more sleep. Maybe it’s time to get back in sync.



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



About Destiny:&nbsp; Destiny Gordon is a rising second-year medical student at Morehouse School of Medicine, originally from Jacksonville, Florida. She is the founder of InnerLight ATL, a youth mental health initiative focused on building safe, supportive spaces for emotional wellness. With over three years of experience in cancer research and a passion for community-centered care, Destiny is dedicated to blending science, advocacy, and storytelling to inform and inspire.

Your Body Clock Is Talking—Are You Listening?

Thyroid disease is surprisingly common. Studies have estimated that around 1 in 20 people in the U.S. have hypothyroidism or hyperthyroidism, some of the most common thyroid conditions.[1,2] Yet despite how prevalent thyroid disease is, it&#8217;s also frequently missed. According to the American Thyroid Association, up to 60% of people with a thyroid condition are unaware of it.[3]



<h2 class="wp-block-heading" id="h-thyroid-101">Thyroid 101</h2>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="422" src="http://35.88.189.111/wp-content/uploads/2025/05/hashimotos-report-icon-1024x422.png" alt="" class="wp-image-33934" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-1024x422.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-300x124.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-768x316.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-880x362.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon-1180x486.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2025/05/hashimotos-report-icon.png 1224w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The thyroid is a butterfly-shaped organ in the neck, just in front of the trachea, that <a href="https://www.23andme.com/topics/health-predispositions/hashimotos-disease/?srsltid=AfmBOoqCPT1mfxaBMpCBrjlJJP_jB7OXbGh7CJ03xS9Njaw1R4tjhA-H" target="_blank" rel="noreferrer noopener">despite its small size plays an important role</a> in a range of physiological functions. It produces thyroid hormone, which circulates throughout the body and impacts metabolism, energy levels, and more. If the thyroid is underactive (<a href="https://www.mayoclinic.org/diseases-conditions/hypothyroidism/symptoms-causes/syc-20350284" target="_blank" rel="noreferrer noopener">hypothyroidism</a>), it doesn&#8217;t produce enough thyroid hormone. Conversely, if it&#8217;s overactive (<a href="https://www.mayoclinic.org/diseases-conditions/hyperthyroidism/symptoms-causes/syc-20373659" target="_blank" rel="noreferrer noopener">hyperthyroidism</a>), it produces too much.&nbsp;



The most common causes of both conditions are autoimmune disorders,[4] where the body&#8217;s immune system mistakenly attacks cells in the thyroid.



<h2 class="wp-block-heading" id="h-what-makes-thyroid-diseases-difficult-to-diagnose-nbsp">What makes thyroid diseases difficult to diagnose?&nbsp;</h2>



One factor is that symptoms can be non-specific. With autoimmune hypothyroidism, for instance, <a href="https://my.clevelandclinic.org/health/diseases/17665-hashimotos-disease" target="_blank" rel="noreferrer noopener">symptoms</a> can include things like weight gain, low energy, joint stiffness, and depression — which can easily be mistaken as the result of stress or too much time behind a computer, for example. Plus, symptoms can come on gradually over time. Or symptoms may come and go.&nbsp;



<h2 class="wp-block-heading" id="h-sometimes-it-s-more-than-just-stress">Sometimes it&#8217;s more than just stress</h2>



A common scenario for someone with undiagnosed Hashimoto&#8217;s: you start to notice gradual but unexplained weight gain along with unshakeable fatigue, and decide to double down on diet and exercise. Yet you see little impact of these efforts. That&#8217;s such a common experience — even for those with normal thyroid function — that it might not occur to you, or your doctor, to get a blood test to rule out potential thyroid problems.



The good news is that once they&#8217;re diagnosed, both hypothyroidism and its counterpart, hyperthyroidism, are treatable, though they may demand lifelong attention to managing them.



<h2 class="wp-block-heading" id="h-exploring-the-role-of-genetics">Exploring the role of genetics</h2>



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" width="1024" height="845" src="http://35.88.189.111/wp-content/uploads/2018/04/DNA-Discovery-1024x845.png" alt="" class="wp-image-26142" style="width:224px;height:auto" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-1024x845.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-300x248.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-768x634.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-880x726.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery-1180x974.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/04/DNA-Discovery.png 1270w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Like other autoimmune conditions, Hashimoto&#8217;s disease and autoimmune hyperthyroidism (Graves&#8217; disease) have a strong genetic component. It&#8217;s been observed that individuals have a &#8220;set point&#8221; or characteristic level of thyroid hormone,[5] and genetics may explain up to two-thirds of the variation between individuals in this set point.[6]



So could genetics help identify people more likely to experience thyroid conditions? In recent years, research has explored how genetics can be used to predict risk for diseases like Hashimoto&#8217;s using polygenic risk scores, or PRS. Someone with the highest <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2022.pdf" target="_blank" rel="noreferrer noopener">genetic likelihood for Hashimoto&#8217;s disease based on a PRS calculated by 23andMe</a> has a <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2022.pdf">3-6 times higher odds</a> of being diagnosed with this condition than someone with an average genetic likelihood.[7]&nbsp;



Polygenic scores also have promising applications for <a href="https://pubmed.ncbi.nlm.nih.gov/32132206/" target="_blank" rel="noreferrer noopener">predicting risk of thyroid cancer</a>, predicting <a href="https://pubmed.ncbi.nlm.nih.gov/37453101/" target="_blank" rel="noreferrer noopener">subtypes of thyroid cancer</a>, and even improving <a href="https://pubmed.ncbi.nlm.nih.gov/37683082/" target="_blank" rel="noreferrer noopener">AI tools for predicting</a> which thyroid nodules are malignant.&nbsp;



And genomics can help tease apart the <a href="https://pubmed.ncbi.nlm.nih.gov/38291025/" target="_blank" rel="noreferrer noopener">biological mechanisms</a> of thyroid function that underlie all these conditions.



<h2 class="wp-block-heading" id="h-genetics-as-a-tool-for-awareness-and-early-action">Genetics as a tool for awareness and early action</h2>



Genetic insights can reveal an increased susceptibility to thyroid conditions, empowering individuals to be more proactive about their health. This heightened awareness could pave the way for faster diagnoses and earlier treatments. And that translates to more years of good health.



_____________________________________________________________________



References:



[1]Doubleday AR et al. (2020). &#8220;Hyperthyroidism.&#8221; Gland Surg. 9(1):124-135. <a href="https://pubmed.ncbi.nlm.nih.gov/32206604/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/32206604/</a>&nbsp;



[2]Patil N et al. (2024). &#8220;Hypothyroidism&#8221;. StatPearls [Internet]. Accessed May 19, 2025, from <a href="https://www.ncbi.nlm.nih.gov/books/NBK519536/" target="_blank" rel="noreferrer noopener">https://www.ncbi.nlm.nih.gov/books/NBK519536/</a>.



[3]American Thyroid Association. &#8220;General Information/Press Room.&#8221; Accessed May 19, 2025, from <a href="https://www.thyroid.org/media-main/press-room/" target="_blank" rel="noreferrer noopener">https://www.thyroid.org/media-main/press-room/</a>.&nbsp;



[4]Vanderpump MP. (2011). &#8220;The epidemiology of thyroid disease.&#8221; Br Med Bull. 99:39-51. <a href="https://pubmed.ncbi.nlm.nih.gov/21893493/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/21893493/</a>&nbsp;



[5]Andersen S et al. (2002). &#8220;Narrow individual variations in serum T(4) and T(3) in normal subjects: a clue to the understanding of subclinical thyroid disease.&#8221; J Clin Endocrinol Metab. 87(3):1068-72. <a href="https://pubmed.ncbi.nlm.nih.gov/11889165/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/11889165/</a>



[6]Panicker V. (2011). &#8220;Genetics of thyroid function and disease.&#8221; Clin Biochem Rev. 32(4):165-75. <a href="https://pubmed.ncbi.nlm.nih.gov/22147956/" target="_blank" rel="noreferrer noopener">https://pubmed.ncbi.nlm.nih.gov/22147956/</a>



[7]Ashenhurst JR et al. (2025). &#8220;White Paper 23-21: A generalized method for the creation and evaluation of polygenic scores.&#8221; 23andMe. Accessed May 19, 2025, from <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf" target="_blank" rel="noreferrer noopener">https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf</a>.

Today Is World Thyroid Day and Genomics Is Here for It

By Tomi Oyedeji-Olaniyan



As part of a new collaboration, the California Northstate University College of Medicine worked with 23andMe to improve their pre-existing genetics curriculum for medical students by integrating components of 23andMe’s genetics education program.&nbsp;



This enhanced curriculum addresses known gaps in genetics education in US medical schools and is based on recommendations from the Association of Professors of Human and Medical Genetics.3&nbsp;&nbsp;



“The truth is that genetics does impact all areas of medicine, and we know that now much more than we did a decade ago or five years ago,” said Noura Abul-Husn, MD, PhD, Vice President of Genomic Health at 23andMe. “I’m excited that we’re making a difference through our education initiatives, where we can offer information to healthcare providers outside of our ecosystem to learn more about genetic testing, genetic health results, and how to use them.”



While the scientific community has made significant advances in the clinical applications of genetics, many patients still do not have easy access to clinicians with genetics training. As a result, patients rely heavily on primary care physicians to address their genetic concerns.1 Despite this, <a href="https://www.tandfonline.com/doi/full/10.1080/10872981.2022.2143920#abstract">a 2022 study</a> revealed that most healthcare providers (HCPs) do not feel prepared to use genetic information in patient care or to address direct-to-consumer (DTC) genetic test results.2&nbsp;



This gap in genetics education starts during medical school, where genetics is often only taught during the preclinical years and is virtually non-existent during the clinical years.3 &nbsp;The collaboration between 23andMe and California Northstate University College of Medicine aims to help address this gap in genetics education and offer medical students an expanded and more comprehensive genetics curriculum.&nbsp;



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="512" height="222" src="http://35.88.189.111/wp-content/uploads/2024/09/California-Northstate-University.jpg" alt="" class="wp-image-33327" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/California-Northstate-University.jpg 512w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/California-Northstate-University-300x130.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<h2 class="wp-block-heading" id="h-the-curriculum">The Curriculum</h2>



As part of this new curriculum, first-year medical students studying genetics will be watching a series of micro-learning videos this fall. These educational videos result from a collaboration between<a href="https://blog.23andme.com/articles/resources-for-healthcare"> 23andMe and Osmosis</a>, an online educational platform for students and clinicians. The videos cover topics including<a href="https://www.youtube.com/watch?v=crsxdOnJg1I&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=2"> </a><a href="https://medical.23andme.com/videos/genetic-variation-and-disease/">genetic variation and disease</a>, <a href="https://medical.23andme.com/videos/complex-conditions-polygenic-risk-scores/">complex disease and polygenic risk scores</a>, <a href="https://medical.23andme.com/videos/using-your-patients-family-health-history-to-guide-their-care/">family health history</a>,<a href="https://medical.23andme.com/videos/interpreting-results/"> interpreting genetic test results, </a>and <a href="https://medical.23andme.com/videos/understanding-pharmacogenetics/">pharmacogenomics</a>. Upon completing the course, students will be assessed for improved knowledge content and asked for feedback on the enhanced course.&nbsp;



California Northstate University College of Medicine&#8217;s first-year medical curriculum requires students to take courses that focus on the fundamental principles of the basic sciences, such as genetics. This collaboration will equip the school’s first-year students with clinically-informed genetics education, allowing them to apply their academic knowledge to real-world clinical practice. Additionally, the medical school offers research opportunities, allowing students with an interest in exploring innovative approaches to genetics education to delve deeper, further supporting our efforts.&nbsp;



“As the future of medicine increasingly relies on genomics, it is essential for physicians to develop expertise in this field,” said Richard Isaacs, MD, FACS, Dean and Senior Vice-President of Medical Affairs and Professor of Otolaryngology-Head and Neck Surgery at California Northstate University College of Medicine. “We must equip physicians and staff with the tools and knowledge to lead in this dynamic area.”&nbsp;



<h2 class="wp-block-heading" id="h-why-is-it-essential-for-doctors-to-have-this-training">Why is it essential for doctors to have this training?</h2>



With the rise of direct-to-consumer genetic testing, it is becoming increasingly important that healthcare providers can interpret and discuss results with their patients. Genetic testing provides tools that can aid healthcare providers in personalizing care for their patients. Many clinics are also starting to adopt precision medicine — an approach, as defined by the US Food and Drug Administration (FDA), to “tailoring disease prevention that accounts for differences in people’s genes, environments, and lifestyles.” Genetics plays a major role in helping HCPs make the right care decisions for their patients and, ultimately, improving clinical outcomes.&nbsp;



Patients are also becoming more proactive about their health. With more awareness surrounding the genetic association with diseases such as breast cancer, Alzheimer’s, and colorectal cancer, patients are choosing to undergo screening and take preventive action where possible. For many patients, this could include DTC testing, which they might then bring to their HCP. Therefore, genetics education and training remain a critical skill set for HCPs.&nbsp;



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="512" height="246" src="http://35.88.189.111/wp-content/uploads/2024/09/DTC-Genetic-Testing-Slide.png" alt="" class="wp-image-33328" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/DTC-Genetic-Testing-Slide.png 512w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/09/DTC-Genetic-Testing-Slide-300x144.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<h2 class="wp-block-heading" id="h-an-ongoing-effort-nbsp">An Ongoing Effort&nbsp;</h2>



A leading consumer genetics and research company, 23andMe, has been working to improve <a href="https://blog.23andme.com/articles/medical-education-at-23andme">genetics education for customers and clinicians</a>. Our Personal Genome Service was the first genetic service authorized by the FDA to provide direct-to-consumer Genetic Health Risk*, Carrier Status*, and Pharmacogenetic reports**. With genetic education at the forefront of customer interaction, 23andMe continues to expand this mission into improved genetics training for HCPs.&nbsp;



In 2021, 23andMe acquired Lemonaid Health, a telehealth service focused on affordable and accessible healthcare. Since the acquisition, Lemonaid Health clinicians have also undergone a 23andMe-developed training program in genetics-informed care, and patients can schedule <a href="https://blog.23andme.com/articles/genetic-report-consults">clinical consultations to discuss their genetic results.</a> Studies done by 23andMe have shown positive learning outcomes after clinicians have completed the training.&nbsp;



“Healthcare providers are facing a wide variety of questions about genetic testing from patients, especially about the genetic aspects of common diseases such as cancer, heart diseases, and mental illness,” explains Anne Greb, MS, CGC, Director of Genomic Health Education at 23andMe. Anne, a trained genetic counselor, has dedicated her career to teaching, improving, and developing genetics education curricula for HCPs the last three decades. “Now, there is an urgent need to modernize genetics education with engaging, scalable activities and resources so HCPs can integrate genetics into the care of their patients.”



<a href="https://medical.23andme.com/genomic-health-team/">23andMe’s Genomic Health team</a> continues to engage with physicians, genetic counselors, pharmacists, and other HCPs to provide resources for interpreting and discussing 23andMe genetic reports. These resources include <a href="https://medical.23andme.com/stories/">HCP-led educational videos</a>, <a href="https://medical.23andme.com/reports/">sample reports</a>, <a href="https://medical.23andme.com/videos/">bite-sized open-source educational videos</a>, and much more. Visit <a href="https://medical.23andme.com/">our website for healthcare professionals</a> to learn more about how 23andMe is supporting HCPs 



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



<h2 class="wp-block-heading" id="h-references">References:</h2>



<ol class="wp-block-list">
<li><a href="https://app.readcube.com/library/?style=Genetics%20in%20Medicine+%7B%22language%22:%22en-US%22%7D">Chou AF, et.al. Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review. J Community Genet. 2021;12(3):291-309.&nbsp;</a></li>



<li><a href="https://app.readcube.com/library/?style=Genetics%20in%20Medicine+%7B%22language%22:%22en-US%22%7D">French EL, et.al. Physician Perception of the Importance of Medical Genetics and Genomics in Medical Education and Clinical Practice. Med Educ Online. Vol. 28. 2023</a></li>



<li>Haspel RL, et.al. Call for improvement in medical school training in genetics: results of a national survey. Genet Med. 2021 Jun; 23(6): 1151–1157</li>



<li>Center for Devices and Radiological Health. “Precision Medicine.” U.S. Food and Drug Administration, FDA, <a href="http://www.fda.gov/medical-devices/in-vitro-diagnostics/precision-medicine">www.fda.gov/medical-devices/in-vitro-diagnostics/precision-medicine</a> (Accessed 16 Aug. 2024).&nbsp;</li>
</ol>



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



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



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports that are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks and report carrier status. 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’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. Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit <a href="http://23andme.com/test-info/">23andme.com/test-info/</a>



 **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 to report and interpret 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/">23andme.com/test-info/pharmacogenetics/</a>

23andMe Collaborates with California Northstate University to Introduce Enhanced Genetics Curriculum for Medical Students

By Anne Greb, MS, CGC, 23andMe Lead, Medical Education
For Genetic Counselor Awareness Day this year, we want to celebrate the important role genetic counselors play in healthcare, but we also want to educate people about how genetic counselors can help them sort through their test results and family health history in making important medical decisions.
<div id="attachment_26688" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26688" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg" alt="" class="wp-image-26688 size-medium" width="300" height="259" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Anne-Greb.jpg 629w" sizes="auto, (max-width: 300px) 100vw, 300px" />Anne Greb, MS, CGC, 23andMe Lead, Medical Education</div>
A future in which genetic and genomic health information is part of clinical care is around the corner, offering hope for more personalized medicine and disease prevention. It will be genetic counselors who help us get there. 
<h6>What We Do</h6>
The simplest description of what we do (I’m a genetic counselor) is to help people assess risk in making critical decisions about their health. These could be decisions about such things as cancer treatment, or pregnancy, or rare disease interventions. While genetics is part of the equation, it’s by no means the only thing a genetic counselor considers. We are often involved before a genetic test is done. Even helping a person decide whether testing is right for them. Often a genetic counselor is needed right at a critical decision point in a person’s life. A genetic counselor has the training and understanding to meet the gravity of those moments. 
Unfortunately, there are too few genetic counselors to meet this growing demand. Over the next decade that demand is only going to get bigger. A recent estimate projects the field is going to grow by <a href="https://www.bls.gov/ooh/healthcare/genetic-counselors.htm">more than 25 percent,</a> according to the Bureau of Labor Statistics. 
<h6>What&#8217;s to Come</h6>
In many ways, this big increase in demand is what we anticipated long ago with the mapping of the human genome. Now more than ever genetic discoveries and new technologies are being used to diagnose rare diseases, or help tailor pharmaceutical approaches to treatment, or identify disease risk. On top of that, the widespread use of direct-to-consumer genetic testing has encouraged more and more people to learn about their own genetic predispositions, prompting discussions with their healthcare providers. 
While we await current efforts to build the ranks of genetic counselors, it’s these healthcare providers who are left to discuss genetic issues with patients. Right now, a lack of knowledge and training for those providers is often an obstacle, so providing genetic education and resources specifically for medical professionals is vital to help ensure that genetics becomes a part of clinical care.
<h6>Medical Education</h6>
That’s part of my role as a genetic counselor and lead of medical education at 23andMe both within the company, but also externally. I’m often engaging with other healthcare professionals to figure out the best way to incorporate genetics into clinical care. 
I’m not alone. Indeed, in a recent National Society of Genetic Counselors Professional Status <a href="https://www.nsgc.org/Portals/0/Docs/Policy/PSS%20Executive%20Summary%202020%20FINAL%2005-03-20.pdf">Survey</a>, 45 percent of genetic counselors reported that education and training played a significant role in their job-related activities. While education is by no means the only thing we do as genetic counselors, it’s an important part of the work. And as a genetic counselor at 23andMe, I can see how this surge in direct-to-consumer genetic testing presents a teachable moment. We know from studies that about 30 percent of direct-to-consumer genetic testing customers ask their healthcare providers about their results.<a id="f1" href="#a1">[1]</a>,<a id="f2" href="#a2">[2]</a> This offers those providers an opportunity to engage with their patients in important discussions, and use these moments to update and discuss family health information. Primary care providers who often have long-standing relationships with patients may be best positioned to offer support when patients discover unexpected findings as a result of one of these tests, and they can refer them to genetic counselors to help navigate the next steps.
So in recognition of Genetic Counselor Awareness Day this year, let&#8217;s consider the work that genetic counselors do to support not just consumers of direct-to-consumer genetic testing, but healthcare providers as well. 
<h6 class="footnotes">References:</h6>
<footer class="footnotes"><code style="display: none;"> </code><code style="display: none;"> </code> <a id="f1" href="#a1">[1]</a> van der Wouden CH, et al. <a href="https://www.genomes2people.org/wp-content/uploads/2016/02/Van-Der-Wouden-et-al-2016.pdf">&#8220;Consumer Perceptions of Interactions With Primary Care Providers&#8221; </a> Ann Intern Med (2016)
<footer class="footnotes"></footer>
<footer class="footnotes"></footer>
</footer>
<footer class="footnotes"><code style="display: none;"></code> <a id="f2" href="#a2">[2] </a> Vassey JL, et al. <a href="https://www.science.org/doi/abs/10.1126/scitranslmed.aaa2401">&#8220;How to know when physicians are ready for genomic medicine&#8221;</a> Science Translational Medicine (2015) </footer>

Genetic Counselor Awareness Day, A Perspective

After four days in Berlin attending the massive annual meeting of the<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />back hopeful for the future.


The challenge for Paul is distilling the most important takeaways from a meeting that included more than 5,500 participants, 2,111 scientific abstracts and hundreds of presentations.
This year the meeting included news of promising clinical trials, innovative technology for monitoring symptoms, and new findings in the hunt for the genetics behind the disease.


“Since this was a meeting primarily intended for specialists and others caring for individuals with Parkinson’s and other movement disorders there was a lot of focus on new therapies including non-drug related ones,” said Paul.
There was also a lot of new data on the importance of nonmotor function symptoms associated with Parkinson’s, including a sobering study that showed that half of all Parkinson’s patients<a href="https://www.medscape.com/viewarticle/865758"> suffer anxiety</a> which in turn can lead to debilitating depression.
For both those treating and studying the disease understanding these nonmotor symptoms is <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23733" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg" alt="PD Infographic Top" width="244" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top-244x300.jpg 244w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top-768x946.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top-831x1024.jpg 831w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top-714x880.jpg 714w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top-958x1180.jpg 958w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/03/PD-Infographic-Top.jpg 1010w" sizes="auto, (max-width: 244px) 100vw, 244px" />important not just to maintain a patient’s health but also for understanding whether these seemingly unrelated symptoms might shed new light on the progression of the disease or even offer new ways of making an earlier diagnosis.
But patients themselves often do not draw attention to these symptoms – which might include such things as insomnia, difficulty with regular bowel movements and sexual dysfunction – because they believe they are unimportant for treating Parkinson’s.
Paul was particularly interested in the work presented around sleep disorders for individuals with Parkinson’s, particularly related to something called<a href="http://brain.oxfordjournals.org/content/early/2016/06/11/brain.aww124.long"> REM sleep behavioral disorder</a> or RBD. It’s a common symptom among Parkinson’s patients that includes vigorous movement during REM sleep. This can sometimes be dangerous for both the patient and their partner. It’s also an early sign of the disease and, similar to Parkinson’s is believed to be related to misfolding and clumping of alpha-synuclein in the brain.


“It’s of interest in terms of Parkinson’s research because it appears to be a precursor to a number of alpha-synucleinopathies,” Paul said.


RBD occurs in about half of individuals with Parkinson’s often, but not always preceding PD diagnosis. Looking at many of these non-motor symptoms collectively may help researchers identify people who are at risk for developing Parkinson’s, Paul said. The challenge, at least with RBD, is that formal diagnosis, currently requires overnight observation in a sleep clinic, an option that is impractical for many Parkinson’s patients.
Another highlight of the meeting in Berlin was new research around mutations in the GBA gene, carrying two copies of which is associated with developing Gaucher’s disease, an inherited disorder that causes fatty substances to accumulate in cells.
This rare condition was first linked to Parkinson’s in 2008. The same mutations that put someone at risk for Gaucher’s are also associated with a higher risk for developing Parkinson’s. Unlike Gaucher’s, carrying one mutant version of the gene is sufficient to increase the risk of PD. Researchers are looking at parallels in the biology of the diseases. In Gaucher’s disease the genetic mutations lower the level and activity of an enzyme that helps break down proteins and lipids. Lower levels of this same enzyme may allow for the accumulation of alpha-synuclein in the brain.
There’s much more, but for Paul what was most compelling was news that there is research from a number of groups that has identified compounds that target that key enzyme and may in turn be useful for treating both Gaucher’s and Parkinson’s.
“There is also reason to believe that this mechanism might work on regular Parkinson’s not just those cases that are due to GBA mutations,” said Paul.


But as yet none of the compounds are in the clinical testing phase.
That said, the meeting in Berlin did include information on several different promising treatments that are in either the clinical trials phase or beyond. Some of those involved several new treatments for patients who have tremors, including the use of<a href="http://journals.lww.com/neurotodayonline/blog/NeurologyTodayConferenceReportersMDSInternationalCongress/Pages/post.aspx?PostID=13"> focused ultrasound</a>. There is also progress in testing of the drug<a href="https://www.michaeljfox.org/foundation/news-detail.php?record-pace-of-recruitment-speeds-isradipine-trial"> isradipine</a>, a drug used for treating high blood pressure, use of which has been shown to be associated with a lower incidence of Parkinson’s. The drug is now in a phase three clinical trial, according to Paul.
Finally, he noted that the Berlin meeting also featured several studies showing the steady progress around exploration of Deep Brain Stimulation as a way to treat many of the motor symptoms of Parkinson’s.


“In one clinical study DBS appeared to have better outcomes than ‘best medical treatment’,” Paul said.

International Parkinson’s Meeting News

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3091" title="pd" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/pd.png" alt="" width="315" height="256" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/pd.png 315w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2009/03/pd-300x244.png 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
By Nick Eriksson, 23andMe Principal Scientist, and Lizzie Dorfman, Parkinson&#8217;s Research Project Manager
Less than a year ago we announced the <a href="https://www.23andme.com/about/press/20090312/" target="_blank" rel="noopener noreferrer">launch of the 23andMe Parkinson’s Research Initiative</a>. Since then, we have built one of the world&#8217;s most useful resources for studying the <a href="https://blog.23andme.com/2009/03/19/understanding-the-genetics-of-parkinsons-disease-a-work-in-progress/" target="_blank" rel="noopener noreferrer">genetics of Parkinson&#8217;s disease</a>.
This past December we had meetings with the <a href="http://www.nih.gov/" target="_blank" rel="noopener noreferrer">National Institutes of Health</a>, <a href="http://www.fastercures.org/" target="_blank" rel="noopener noreferrer">FasterCures</a>, pharmaceutical companies and several key Parkinson’s geneticists to discuss our research. The feedback was unequivocally positive. We are thrilled by the progress we’ve made and wanted to make sure to publicly share some of our most significant accomplishments to date, as well as a preview of what is to come.
<h6>Progress on Recruitment</h6>
So far, more than 3,500 people with Parkinson&#8217;s disease from 49 U.S. states and 17 countries have submitted saliva samples for genetic analysis and carefully answered more than 30,000 online surveys to help with our research. Our genetic database now includes many important subgroups of Parkinson&#8217;s patients, each presenting a tremendous opportunity for current and future research.
These include a large group of people with early-onset Parkinson’s (â‰¤50 years old at diagnosis), carriers of extremely rare mutations that are known to strongly predispose a person for the disease, and people with a family history of Parkinson&#8217;s with no known cause. We&#8217;ve also had an incredible response from our other communities: more than 8,000 people without Parkinson&#8217;s have taken our Parkinson’s surveys so that they can be included in our studies as crucial control subjects.
<h6>Unique Research Model</h6>
An important aspect of research at 23andMe, one that distinguishes us from many other research programs, is the way we collect information about the health, activities and environment of our participants.   Traditional methods of data collection &#8212; for example, using an existing medical record or a meeting between a researcher and each participant &#8212; can be costly, time-consuming and limit the number of people willing and able to participate.
In contrast, 23andMe utilizes simple online surveys that can be completed anywhere at anytime.   This allows people from all over the world to easily participate in our research on an on-going basis. Because this is a new way of collecting data, we&#8217;ve taken special care to make sure that the information we collect is accurate.   Careful analysis has indicated that the survey answers our participants have been providing are of very high quality.
<h6>How can we tell?</h6>
Well, one example is that we&#8217;ve independently identified many of the same genetic markers previously found by other Parkinson&#8217;s researchers.   Even the magnitude of the effects we&#8217;ve found are similar to what other research groups have seen.
For example, the <a href="https://blog.23andme.com/2009/11/17/snpwatch-common-genetic-variants-associated-with-risk-for-parkinsons-disease-identified-in-asian-and-european-populations/" target="_blank" rel="noopener noreferrer">published literature</a> has shown that each copy of a G at SNP rs393152 near the MAPT gene reduces the odds of Parkinson&#8217;s by 0.23 times. This is very similar to what we&#8217;ve seen in our data: we found that each G reduced the odds of Parkinson&#8217;s by 0.21 times. Each G at rs2736990 near the SNCA gene has been shown to increase the odds of Parkinson&#8217;s by 1.23 times. We found an increase of 1.28 times for each G .
In addition, we&#8217;ve also replicated the known associations between the LRRK2 and <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Search&amp;db=pubmed&amp;term=19846850" target="_blank" rel="noopener noreferrer">GBA</a> genes and Parkinson&#8217;s. All of these results are important and exciting evidence that our revolutionary new way of conducting research is a viable alternative to traditional methods.
<h6>Verifying Other Findings</h6>
Thanks to the detailed information that has been contributed by everyone participating in the 23andMe Parkinson&#8217;s community, we&#8217;ve also been able to verify some things about Parkinson&#8217;s that aren&#8217;t genetic. For example, we see that <a href="https://www.23andme.com/health/Parkinsons-Disease/" target="_blank" rel="noopener noreferrer">LRRK2 G2019S</a> carriers who have Parkinson&#8217;s disease show fewer symptoms than other patients when adjusted for duration of the disease, age of onset, and sex.
This is similar to the result in a paper published by other researchers in the journal <a href="https://www.ncbi.nlm.nih.gov/pubmed/18539534" target="_blank" rel="noopener noreferrer">Lancet Neurology</a> in 2008. The survey answers we&#8217;ve collected are also able to divide our participants into the classically observed   tremor dominant and postural instability gait difficulty (PIGD) subtypes of Parkinson&#8217;s. These and other similar results provide further support for our web-based paradigm for conducting clinical research.
<h6>Collaborators</h6>
We are currently working with the <a href="http://www.thepi.org/" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s Institute</a>, with funding from the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a>, on a <a href="https://www.23andme.com/about/press/20080514/" target="_blank" rel="noopener noreferrer">long term project</a> to formally show that Parkinson&#8217;s disease data collected online is as good as data collected in a clinical setting.
We&#8217;re very excited about the possibilities of the data we&#8217;ve collected from the Parkinson&#8217;s Disease Research Initiative. We&#8217;re in the process of writing up some of the results we&#8217;ve shared here, along with some others, and will soon submit papers on Parkinson&#8217;s Disease genetics to peer-reviewed scientific journals.
Also in store for the year ahead: continued recruitment, new research surveys, cutting-edge and exploratory data analysis techniques and new research collaborations. We&#8217;ll be sure to keep sharing our progress.
We would also like to express our thanks for the support and outreach efforts of several organizations. Since our launch we&#8217;ve been honored to work with the Michael J. Fox Foundation and The Parkinson&#8217;s Institute and Clinical Center. Over the last year we have been thrilled to add the support of <a href="http://www.parkinson.org" target="_blank" rel="noopener noreferrer">The National Parkinson Foundation</a>, <a href="http://www.patientslikeme.com/" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, <a href="http://www.nwpf.org/" target="_blank" rel="noopener noreferrer">The Northwest Parkinson&#8217;s Foundation</a> and <a href="http://www.cureparkinsons.org.uk/" target="_blank" rel="noopener noreferrer">The Cure Parkinson&#8217;s Trust</a>, among others.
Speaking of outreach, it&#8217;s not too late to join in our efforts and help us make even more discoveries.   If you have been diagnosed with Parkinson&#8217;s disease, all it takes to join our research initiative is $25, a small saliva sample and the ability to answer online surveys. Learn more and request a discount code here: <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">https://www.23andme.com/pd/</a>.

GBA