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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

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

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



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



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



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



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



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



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



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



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



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



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



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



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

23andMe Research Institute Attending ASHG 2025

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

New Genetic Insights Into Cannabis Use

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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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

Predicting Treatment-Resistant Depression Using the 23andMe Survey Data

<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

National Cancer Prevention and Early Detection Month: Highlighting Customer Stories

<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="768" src="http://35.88.189.111/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg" alt="Image of Jenn and her three half siblings" class="wp-image-33542" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-1024x768.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-300x225.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-768x576.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings-880x660.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/All-the-siblings.jpg 1080w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Jenn (far left) and her half siblings (from left) Joe, Mechele &#038; Lisa</figcaption></figure>



They were strangers to Jenn, so as she prepared for her first in-person meeting with her newly found brother and two sisters, her anxiety rose.



“Of course, I was nervous,” said Jenn, a 46-year-old who works in a New York real estate office. “I went over everything that can go wrong, you know, especially because of what happened when I reached out to my birth mother.”



That was in 2019. The state of New York had just opened adoption records. Jenn found the identity of her birth mother, carefully crafted a letter to her, and included photos of herself as a child and another one of her as an adult. Jenn didn’t want anything from her birth mother; she just wanted to connect. Instead of an embrace, she got the kind of response many adoptees fear the most.



“She doesn’t want to have anything to do with me,” Jenn said.



<h2 class="wp-block-heading" id="h-you-have-daddy-s-eyes">‘You Have Daddy’s Eyes’</h2>



So, five years later, after connecting through 23andMe to three half-siblings on her birth father’s side, Jenn was all butterflies. Then she walked into the pizza parlor where she’d be meeting Joe, Lisa, and Mechele. She heard Lisa say, “Welcome baby sister,” and she then got her first group hug.



“Sometimes when you meet someone for the first time, you’re nervous and you hold something of yourself back,” Jenn said. “There was none of that. It’s crazy how easily we got along.”



At one point, one of her siblings said, “You have daddy’s eyes.”



One minute, they were four strangers meeting for the first time; the next, they were family.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="360" height="480" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-sister-.jpg" alt="Jenn and half-sister Mechele" class="wp-image-33543" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister-.jpg 360w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-sister--225x300.jpg 225w" sizes="auto, (max-width: 360px) 100vw, 360px" /><figcaption class="wp-element-caption">Jenn and Mechele</figcaption></figure>



<h2 class="wp-block-heading" id="h-creating-family-memories">Creating Family Memories</h2>



That was on January 26th, 2024, the 30th anniversary of their father’s death. Their bonds with each other have only grown since then, including a bigger family reunion in August and plans to gather again for the holidays this year.



“I am looking forward to creating memories with my family and learning more and more about our father,” said Jenn. “23andMe was a blessing, and we are so very grateful for the opportunity to make our family complete.”



Getting to the point where she could sit at this much, much bigger family table this holiday season wasn’t easy. It was 46 years in the making.



Jenn, and her brother, were adopted from different families, but they always felt lucky to have a mom that loved them unconditionally.



“When I say, ‘my mom,’ I mean the woman who raised me,” Jenn said. “She is my mother.”



That’s never going to change.



<h2 class="wp-block-heading" id="h-losing-mom">Losing Mom</h2>



When, as young kids, she and her brother learned that they’d been adopted, they didn’t tell their mom.



“I couldn&#8217;t even think about looking for (my birth parents) while she was here because it would have broken her,” Jenn said. “I would not do that.”



For Jenn, being adopted felt special. She believed that unlike other kids who just get the parents they’re born to, she and her brother had been chosen by their parents, and they won the parent lottery with their mom.



“She was my world,” Jenn said, her voice filled with emotion.



When their mom died in 1997, Jenn was devastated. She was 19.



It would be a long time before she’d start searching for where she came from and who her birth parents might have been. It wasn’t so much to make a connection but more about trying to understand herself and her story.



“I wanted to know where I came from and who I was,” she said.



She loved her mom and loves her brother, but she also felt different.



“Growing up, my mom was very quiet, very calm, cool, and collected,” Jenn said. “My brother is also like that, and here I come along and I’m loud, I&#8217;m fresh. I’m the person at the party saying &#8216;let&#8217;s dance.’ I wanted to know why I was that way.”



<h2 class="wp-block-heading" id="h-taking-a-chance-at-finding-family">Taking a Chance at Finding Family</h2>



Her first quest in 2019 started with getting ahold of her adoption records in New York and ended in rejection. She thought that was the end to her search for family.



“I closed the book on all that,” she said.



In 2017 she used 23andMe, but it wasn’t to find her family. She wanted to learn more about her ethnicity. She learned she was mostly British and Irish and had some German ancestry. She had some very distant cousins that popped up, but she didn’t really think about family connections. Then she got an email in December of 2023 notifying her that a relative had messaged her on 23andMe.



It was a message from Joe.



She scrolled down, saw his photo and that he was predicted to be a half-brother.



“I dropped my phone,” she said.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="240" height="320" src="http://35.88.189.111/wp-content/uploads/2024/12/Jenn-and-Joe.jpg" alt="Jenn and half-sibling Joe" class="wp-image-33544" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe.jpg 240w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/12/Jenn-and-Joe-225x300.jpg 225w" sizes="auto, (max-width: 240px) 100vw, 240px" /><figcaption class="wp-element-caption">Jenn and Joe</figcaption></figure>



<h2 class="wp-block-heading" id="h-meeting-for-the-first-time">Meeting for the First Time</h2>



They feverishly began exchanging messages. Joe was as eager as she was to learn more. He eventually asked if he could loop in his sisters. Jenn thought, “Wait, I have sisters.” Then using Facebook, she was able to put more faces to names.



Along with Joe, there was Mechele and Lisa. They all had questions for her as well. Their dad had divorced from their mom in the early 1970s, and afterward he dated for a while. That’s when Jenn had been conceived, but the three siblings believe their father didn’t know anything about Jenn.



“He had no idea about me,” Jenn said. “Everyone swears that if he knew, he one hundred percent would have looked for me, would have found me, and would have been a part of my life.”



But he never got that chance, and then he died of a heart attack in 1994.



<h2 class="wp-block-heading" id="h-nature-versus-nurture">Nature Versus Nurture</h2>



Now Jenn is learning about her birth father from her siblings. She’s learning that they all share the same kind of boisterous personality as she does, and odd little things.



“Okay. So here&#8217;s one thing that happened when,” Jenn said offering one example. “We took a picture, all four of us for the first time and we&#8217;re all joking and just kind of sitting there living in the moment. And my sister Mechele goes, ‘Put a leg up!’”



She kicked her leg up and her sister grabbed it for the photo.



“I stopped for a second and she said, ‘Wait, what happened?’” Jenn said. “They all stopped and looked at me.”



That’s something she’s always doing for photos.



“I looked over at my boyfriend and we&#8217;ve been together for 20 years, and he just shook his head, (because) I do that all the time. I say, ‘Put a leg up!’ and you throw a leg up in the picture.”



It’s such an odd thing to imagine that could be something genetically shared, but it was also so distinctive like something she has always done.



“I was baffled, it’s so weird, but cool, in a cool way,” Jenn said.



<h2 class="wp-block-heading" id="h-your-people">Your People</h2>



&nbsp;As she gets closer to visiting again with her newfound family for the holidays, Jenn also marvels at how fortunate she has been.



“It’s beautiful, this is my family, and I finally get like, I get it all. I get sisters. I get an extra brother. I don’t know how it was so perfect or how I’m so lucky. But I am. I’m the luckiest person in the world.”



There is no question that they are going to stay in each other’s lives. The family is just bigger now.



Her brother, who she was raised with, saw it too.



“He’s my brother. We’re not blood related, but we were raised together. And he said to me when he saw the photos of that first meeting, he said, ‘Jennifer, those are your people.’”

Image of Jenn and her three half siblings

New Family Gathering This Holiday Season

Bella doesn’t know how it started, but genetics has fascinated her since she was little.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="228" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg" alt="A photo of Bella." class="wp-image-33300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-228x300.jpg 228w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-768x1009.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-779x1024.jpg 779w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-670x880.jpg 670w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo-898x1180.jpg 898w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/Bella-Photo.jpg 1080w" sizes="auto, (max-width: 228px) 100vw, 228px" /></figure>



“I don’t know what triggered it; it just appealed to me,” said Bella, a 22-year-old college student with a passion for biology.



For Bella, genetics is like a giant puzzle, with scientists still trying to piece it together to reveal something about us as humans or why some people get sick, and others don’t. 



During the pandemic, she devoured details of how scientists used a small piece of messenger RNA, mRNA, to create a vaccine that would produce an immune response and antibodies against COVID-19. She also contemplates what might be possible in the future; as most people know, certain genetic variants can dramatically increase one’s risk for a disease. But Bella likes to imagine discovering genetic variants that might do the opposite and protect one against disease.



“There’s still so much more to discover,” she said.



<h2 class="wp-block-heading" id="h-a-gift-of-knowledge">A Gift of Knowledge</h2>



She soon learned that the same was true about her own genetics. Her mom gifted her a 23andMe Health + Ancestry kit for Christmas one year. Bella thought it was a perfect choice.



“It’s really easy to use and super detailed,” she said.



She was interested in her ancestry because she never knew much about her family tree. It turns out that she’s Turkish, Iranian and Italian. She was also interested in her health reports. She opted in to view the reports, went through a short tutorial, and opened up her reports, including her Cystic Fibrosis Carrier Status Report.*



“I found out I was a carrier of cystic fibrosis,” Bella said.



<h2 class="wp-block-heading" id="h-what-it-means-to-be-a-carrier">What it Means to Be a Carrier</h2>



Being a carrier does not typically impact your health, and it’s not unusual; depending on ethnicity, between one in 25 and one in 100 people in the United States are carriers for cystic fibrosis. But there is a chance that if you are a carrier and your partner is a carrier, you could have a<a href="https://www.23andme.com/topics/carrier/cystic-fibrosis/"> child with cystic fibrosis</a>. P



eople with cystic fibrosis inherit variants in the CFTR gene from both parents. It is relatively rare; about 35,000 people in the United States have<a href="https://www.cdc.gov/cystic-fibrosis/about/"> cystic fibrosis, according to the CDC</a>. It’s a very serious condition affecting breathing and digestion. There is no cure, but new treatments have helped people with the disease live longer.  



Learning that she was a carrier initially was a big surprise and a little scary. But it triggered some essential family conversations. 



<h2 class="wp-block-heading" id="h-planning-ahead">Planning Ahead</h2>



Bella talked to her mom and then contacted her dad to find out if there was any family history of cystic fibrosis. Then she spoke to her older brother and then a cousin. She thought this would be important information for them to know since they might be considering having children.



Her mom told her she was glad she used 23andMe.



“’Now you know,’” Bella’s mom told her.



Knowing meant she could plan ahead if she decided to have children. It would be essential to know if her partner was also a carrier.



&#8220;Knowledge is power!&#8221; Bella said more than once.&nbsp;



&nbsp;She continues to stress the importance of genetic testing and planning for the future.



Learn More



<a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health &amp; Ancestry</a>, <a href="https://www.23andme.com/membership/">23andMe+ Premium</a>, and <a href="https://www.23andme.com/total-health/">23andMe+ Total Health </a>customers can all <a href="https://you.23andme.com/health/carrier_status/">learn about their carrier status here</a>. 



Not yet a customer? Find out more about <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe offers here</a>.



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



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



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults to report carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 



Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. We provide a single report for certain conditions that includes information on carrier status and genetic health risk. 



The Cystic Fibrosis Carrier Status report is indicated for detecting 29 variants in the CFTR gene and is most relevant for people of Ashkenazi Jewish, European, and Hispanic/Latino descent.

Bella Learns About Her Carrier Status

Lillian Newman decided to use 23andMe in part because she wanted to learn about her grandfather, who was from Cuba and had some Sephardic ancestry, but she thought testing could reveal so much more than that.



&#8220;The reason I chose 23andMe is that (it has) a focus not only on the ancestry side but on how your DNA relates to your health,&#8221; Lillian said.



<h2 class="wp-block-heading" id="h-what-i-know-now">What I Know Now</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/IMG_3775-225x300.jpg" alt="A photo of Lillian Neuman" class="wp-image-33205" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-768x1024.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-660x880.jpg 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-885x1180.jpg 885w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/08/IMG_3775-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Little did she know that her 23andMe health reports would help her profoundly. She shared her story because she thought it might help others. Lillian believes that she&#8217;s not the only one who didn&#8217;t know that genetics affects how one&#8217;s body processes many commonly prescribed medications.* Despite this, clinical guidelines rarely call for testing people before prescribing those medications.



&#8220;I wish I had known then what I know now,&#8221; Lillian said. &#8220;Using 23andMe+ Premium and finding out about the SLCO1B1 gene was huge. Huge.&#8221;



Her reference to the SLCO1B1 gene refers to how different genetic variants in SLCO1B1 can affect how you process certain medications.&nbsp; Like millions of Americans, Lillian Newman has high cholesterol, which, left untreated, can lead to a whole host of issues, including heart disease, heart attacks, and strokes. She learned about her high cholesterol after a routine blood test in 2018. To address the problem, Lillian&#8217;s doctor prescribed a statin.



<h2 class="wp-block-heading" id="h-statins-save-lives">Statins Save Lives</h2>



Statins are among the most prescribed medications in the United States. According to the CDC, an estimated one in four adults in the U.S. takes a cholesterol-lowering medication, and the vast majority of those are statins.



Statins work by inhibiting an enzyme in the liver so the liver makes less cholesterol but pulls in more cholesterol from the bloodstream. That lowers the amount of bad cholesterol in the blood, stabilizing any plaques along the artery&#8217;s walls, and preventing even more plaque from building up. That, in turn, reduces the chances of a stroke or heart attack. Statins have proven<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126440/"> mostly safe and effective</a> in lowering cholesterol and thus have helped to prevent heart attacks and strokes.



<h2 class="wp-block-heading" id="h-side-effects">Side Effects</h2>



But there are some side effects from taking statins — headache, brain fog, fatigue, and sometimes intense muscle cramping and pain. Sometimes, these side effects are related to a person&#8217;s genetics, which can affect how they process medications. In turn, the side effects sometimes lead people to either change how they take their medication or stop taking it altogether, which in turn can lead to poor health outcomes.



For Lillian, the side effects — severe muscle pain — began after her doctor increased the dose of the statin she was taking. Within a few weeks, the muscles in her legs started cramping. At one point, she had such crushing chest pain that she thought she was having a heart attack and was rushed to the ER. After a cardiologist determined it wasn&#8217;t her heart, her doctor told her that sometimes people experience cramping as a side effect of taking statins but that the benefits of taking the statin outweigh the pain.



&#8220;I remember I went home feeling despondent,&#8221; Lillian said.



Lillian said no one ever mentioned genetics or how using a different statin dose might help. She thought she just had to grit her teeth and bear it. Periodically, the pain was so bad that she&#8217;d go off her medication, something that can be very risky.



<h2 class="wp-block-heading" id="h-a-simple-change">A Simple Change</h2>



A person&#8217;s genetics — specifically a genetic variant that affects the function of the <a href="https://blog.23andme.com/articles/new-23andme-report-on-simvastatin">SLCO1B1 transporter protein</a>, which in turn affects how a person&#8217;s body processes the statin known as simvastatin — plays a role in side effects like muscle pain in some people. Other non-genetic factors also play a role, but very few people are tested to see if they have a genetic marker that might impact how they process a drug. Lillian didn&#8217;t know anything about what&#8217;s known as <a href="https://blog.23andme.com/articles/23andme-granted-the-first-and-only-fda-authorization-for-direct-to-consumer-pharmacogenetics-reports">pharmacogenetics</a> or how DNA variants influence the body&#8217;s ability to process medication.



&#8220;In the five years of dealing with cholesterol issues, no one tested me for SLC01B1,&#8221; Lillian said.



Although she had been a customer of 23andMe for years, last year, she decided to upgrade to 23andMe+ Premium, which includes pharmacogenetic reports. When she opened the report on SLCO1B1 Drug Transport, specifically looking at the medication insights for simvastatin, it felt personal to her experience.



&#8220;It provided me with critical information to discuss with my doctor,&#8221; Lillian said.



Her doctor lowered her statin dosage, and that small change made a huge difference in her life, allowing her to continue to manage her cholesterol but without the debilitating pain.&nbsp;



&#8220;Now, I wanted to tell you that doing the 23andMe+ membership is the best (money) I spent this year,&#8221; Lillian said. &#8220;I am deeply grateful to 23andMe. You truly made a difference for me by having that test available. I think everyone should know about this.&#8221;&nbsp;



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



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



*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 and does not describe the association between detected variants and any specific 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. Results for SLCO1B1 and 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 Pharmacogenetics reports, visit <a href="http://23andme.com/test-info/pharmacogenetics/">23andme.com/test-info/pharmacogenetics/</a>

Customer Learns Her Genetics Impacts How She Processes Statins

By Rebecca Jones



We all have a story or an accumulation of stories that make us who we are. It&#8217;s part of being human. It&#8217;s in our DNA. If those stories vanish, what are we then?&nbsp;



<h2 class="wp-block-heading" id="h-six-million-living-with-alzheimer-s-disease">Six Million Living with Alzheimer&#8217;s Disease</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="200" height="300" src="http://35.88.189.111/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg" alt="A photo of Rebecca Jones." class="wp-image-33172" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/07/Rebecca-Jones.jpg 426w" sizes="auto, (max-width: 200px) 100vw, 200px" /></figure>



More than <a href="https://www.alz.org/alzheimers-dementia/facts-figures#:~:text=More%20than%206%20million%20Americans%20of%20all%20ages%20have%20Alzheimer's,older%20(10.7%25)%20has%20Alzheimer's.">six million people in the United States live with Alzheimer&#8217;s disease</a>. A condition that cruelly extinguishes memories one by one—everything from the memory of holding a child for the first time to the touch of a fleeting lost love or the bracing courage we felt when we stood up for ourselves. With Alzheimer&#8217;s disease, those memories vanish until you have no stories left.&nbsp;



Not too long ago, I learned from a 23andMe genetic test that I carry the ?4 variant in the APOE gene, predisposing me toward late-onset Alzheimer&#8217;s disease.* Seeing &#8220;increased risk&#8221; in writing shook me, but it wasn&#8217;t surprising. Three of my aunts on my father&#8217;s side died of Alzheimer&#8217;s disease. After a series of follow-up visits with doctors, confirmatory testing, and then brain scans, I learned that I had early signs of Alzheimer’s disease. Soon after learning all this, I became part of a clinical trial and was among the first wave of patients treated with Eisai and Biogen’s newly approved drug, <a href="https://www.statnews.com/2024/05/09/alzheimers-leqembi-eisai-biogen-hurdles/">Leqembi.</a>



<h2 class="wp-block-heading" id="h-my-story">My Story</h2>



I want to share my story because I believe we should all rethink how we approach genetic testing for Alzheimer&#8217;s disease or any disease. Knowledge is power. Learning early through a consumer genetic test alerted me to a risk I didn’t know about before I was symptomatic. It was information that my doctors could follow up on, and then, miraculously, there was a clinical trial for which I was a good candidate. If I’d waited until I was symptomatic, it might have been too late.



I&#8217;m a mother of four and grandmother of ten. Before I retired, I was a marketing manager for a pharmaceutical company focusing on oncology. Maybe that made me particularly ready to understand the importance of learning one’s genetic risk and navigating participation in a clinical trial.



<h2 class="wp-block-heading" id="h-new-treatments">New Treatments </h2>



For too long, the prognosis for people with Alzheimer’s was bleak. So much so that doctors recommended against learning of your genetic risk because, they reasoned, there was little you could do about it; learning of your risk would cause anxiety and stress. Research <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778270/">doesn&#8217;t support that</a>, but more importantly, the options for people with an early diagnosis have changed. I’m hoping that attitudes about genetic testing, or new types of <a href="https://www.washingtonpost.com/health/2022/11/17/alzheimers-blood-test-research-treatment/">blood testing</a> to identify those at risk or who may have early-stage Alzheimer’s, change as well.&nbsp;



Learning of my risk and then getting a diagnosis spurred me to action. I studied up on new research, promising treatments, and interventions that had only recently become available. Learning of my risk wasn&#8217;t easy, but I knew it was something I couldn’t ignore. I had to educate myself.



<h2 class="wp-block-heading" id="h-a-family-conversation">A Family Conversation</h2>



After I learned of my risk, I did what a lot of people do when confronted with a health issue: I talked to my family. Alzheimer&#8217;s runs in families, so this was more than just seeking counsel; I wanted my sisters and my adult children to know that the risk I faced might be something they should be aware of as well. My older sister and two of my daughters tested and learned that they, too, carry the same genetic risk. They call this the <a href="https://www.cdc.gov/cascade-testing/about/?CDC_AAref_Val=https://www.cdc.gov/genomics/disease/cascade_testing/cascade_finding.htm">cascade effect</a> of genetic testing. One family member learns of a risk and can alert other family members to a potential risk they might not have known otherwise.



Beyond talking to family, I spoke to my doctor, who fortunately didn&#8217;t just brush it off. What followed was confirmatory testing, baseline testing for cognitive impairment — I had some — and referral to a neurologist. A brain scan revealed amyloid plaque build-up, a sign of the disease. 



<h2 class="wp-block-heading" id="h-a-clinical-trial">A Clinical Trial</h2>



I learned that I had early signs of Alzheimer&#8217;s. But I also knew I was a good candidate for a drug that was in clinical trials. I volunteered. I also learned that I was the perfect candidate for the drug Leqembi. The FDA approved Leqembi to treat people with early Alzheimer&#8217;s disease as a way to slow its progression. Knowing your APOE status is recommended before treatment because individuals with two copies of the APOE e4 variant have an increased risk for side effects. My older sister and I began infusion treatments together. 



The biggest takeaway for me is that, just like with cancer, the earlier a diagnosis, the better the odds of treating Alzheimer&#8217;s. And yet, often, people only learn that they have Alzheimer&#8217;s after symptoms become hard to ignore. However, by then, the disease has already caused significant damage. 



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



How many people are diagnosed with Alzheimer&#8217;s before significant cognitive impairment? Not many, unfortunately.



I was lucky. I had access to a genetic test that informed me of my risk early. I didn&#8217;t ignore it. I acted early with my doctor&#8217;s help. My hope lies in more people like me getting genetic testing, learning of their potential risk, and then following up and getting an early diagnosis. 



It&#8217;s given me the chance to use new treatments to stave off the erasure of my memories. I hope it will help prevent Alzheimer&#8217;s from robbing me of the stories that make up my life.



Rebecca Jones is a mother of four and grandmother of ten. She is retired and was formerly a marketing manager for a pharmaceutical company focused on oncology. She lives in Tulsa, Oklahoma.



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



<h6 class="wp-block-heading" id="h-note">Note:</h6>



*The 23andMe PGS 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. 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. 



The Late-Onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the e4 variant in the APOE gene. It describes if a person has a variant associated with an increased risk of developing late-onset Alzheimer’s disease. The e4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.

The Power of Knowing

Editor&#8217;s note: For Juneteenth we&#8217;re republishing a post from earlier this year about connecting a woman and her family to the remains of a little girl buried among those of other enslaved African Americans near a historic iron furnace in Maryland. 



Agnes Jackson lives in Hagerstown, Maryland, near her four daughters and about 20 miles from the Catoctin Furnace, a historic site.&nbsp;



This long-ago shuttered iron smelter is one of the earliest industrial sites in the United States. The old iron furnace is on the edge of the Catoctin Mountain National Park, a verdant open space blanketed in forest and lined with hiking trails along the edge of the Blue Ridge Mountains.



<h2 class="wp-block-heading" id="h-an-iron-furnace">An Iron Furnace</h2>



The beauty of the place belies the brutal conditions that once made up the day-to-day lives of the free and enslaved African Americans who lived and worked there.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg" alt="A photo of Agnes Jackson." class="wp-image-32672" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Agnes-1180x663.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes Jackson, as researchers explain her genetic connection to a girl buried at the historic Catoctin Furnace.</figcaption></figure>



Until recently, Agnes, who is 86, knew little of that history or her deep connection to those who lived and worked there.



Despite living so close, Agnes and her daughters visited Catoctin for the first time only about a year ago, soon after she learned about her family&#8217;s link to the site.&nbsp;



&#8220;We never knew,&#8221; Agnes said during a visit to the site last year.



With the help of the local archaeologist and president of the Catoctin Furnace Historical Society, Elizabeth Comer, and <a href="https://www.science.org/doi/10.1126/science.ade4995?adobe_mc=MCMID%3D36970045036454591841970885085615049025%7CMCORGID%3D242B6472541199F70A4C98A6%2540AdobeOrg%7CTS%3D1708709301">groundbreaking research</a> from scientists at Harvard, the Smithsonian, and 23andMe, Agnes and her family are seeing for the first time all the threads that connect them to this place and the people who toiled here.



Elizabeth, who perhaps has spent more time than anyone trying to document the legacy of the people who worked at the furnace, said adding the DNA component to this research connects this early American history to the living.



&#8220;What DNA does for the first time is connect a living, 21st-century family not just to Catoctin but to the cemetery,&#8221; she recently told Science magazine.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg" alt="Photo of Agnes and her daughters talking to Éadaoin Harney, and Elizabeth Comer." class="wp-image-32671" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Photo-of-Elizabeth-Eadaoin-talking-to-Agnes-and-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">From left Éadaoin Harney, Elizabeth Comer, Agnes Green, her daughters Vicki Winston, Sharon Green, and Barbara Hart. </figcaption></figure>



<h2 class="wp-block-heading" id="h-groundbreaking-genetic-study">Groundbreaking Genetic Study</h2>



Earlier this month, Elizabeth and 23andMe scientist Éadaoin Harney visited with Agnes and three of her daughters, Sharon Green, Vicki Winston, and Barbara Hart, at a museum commemorating the Catoctin Furnace and the enslaved and free people who worked there.



Éadaoin was the lead author of a study published in the journal Science last year. The other researchers in the study included senior authors David Reich at Harvard and Doug Owsley at the Smithsonian. The researchers sequenced and studied genetic data from the remains of 27 anonymous enslaved and freed African Americans buried at the site. 



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Catoctin + 23andMe" width="500" height="281" src="https://www.youtube.com/embed/FJ-wWvZVK94?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



The remains were uncovered decades ago during a highway construction project and buried in an unmarked burial ground. Researchers noted that the genetically related individuals were clustered into five family groups: mothers, children, and siblings.



The study leveraged 23andMe&#8217;s extensive research database to find genetic connections between those anonymous individuals and more than 41,000 relatives, although most of whom are very distantly related. The paper broke new ground by providing a technical and <a href="https://blog.23andme.com/articles/ethics-and-the-study-of-historic-dna-catoctin-furnace">ethical benchmark for future studies</a> of similar, largely forgotten burial sites. Agnes and her family were the first of the living close relatives to be informed that they share a previously unknown genetic connection to a historical individual using the first-of-its-kind approach developed by 23andMe researchers for this study.



When the paper was published in August 2023, Carter Clinton, an African American geneticist at North Carolina State University, said the research was &#8220;significant for every African American in the country.&#8221;&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg" alt="A photo of the Catoctin Furnace" class="wp-image-32668" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/The-Catoctin-Furnace-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h2 class="wp-block-heading" id="h-the-human-connection">The Human Connection</h2>



For Agnes, it was also personal. One of those family groups that the study identified at the Catoctin site included the remains of a young girl between the ages of two and three years old. There were few artifacts with the body, just some pins, nails, and screws found with her remains. The nails and screws were likely the only surviving remnants of the coffin she was buried in, and one of the pins was perhaps used to hold back the little girl&#8217;s hair, some of the researchers suspect. The other pins were likely used to fasten a burial shroud.&nbsp;



Comparing the genetic sequence of this little girl with Agnes, Éadaoin and the team of scientists saw a large amount of shared DNA, indicating they were relatively closely related. The most likely connection is with Agnes&#8217;s great-great-grandfather, Hanson Summers. It’s possible that Hanson and the girl were half-siblings or cousins.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg" alt="A photo of Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart." class="wp-image-32665" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Agnes-and-three-of-her-daughters-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Agnes, left, with her daughters, Vicki Winston, Sharon Green, and Barbara Hart.</figcaption></figure>



Often, there is family lore, stories passed down from generation to generation, but it is rare for African Americans to trace back their family history, often hitting the brick wall of slavery. Often, historical records for those enslaved ancestors are spotty. Names may never have been recorded or are only partially recorded.&nbsp;



For Agnes&#8217;s family, it was no different. She knew nothing of her family&#8217;s connection to the iron furnace. That changed a few years ago during this study when researchers from the Catoctin Furnace Historical Society, who had been attempting for years to find living descendants, had their first success. Elizabeth helped connect Agnes&#8217;s family to the furnace using paper records and historical sleuthing. The connection was through her great-great-grandfather, Hanson &#8220;Henson&#8221; Summers, who&#8217;d been enslaved at the iron furnace site in the early 19th century.&nbsp;



<h2 class="wp-block-heading" id="h-a-family-s-history-and-american-history">A Family&#8217;s History and American History</h2>



The family, of course, knew that their ancestors had been enslaved. They knew he’d worked at the Antietam Furnace that operated in Hagerstown, but they didn&#8217;t know they were linked to the Catoctin Furnace until Elizabeth connected them. 



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="577" src="http://35.88.189.111/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg" alt="Photo of cannon balls produced at the Catoctin Furnace." class="wp-image-32670" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1024x577.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-1180x665.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-768x433.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Canon-balls-manufactured-at-the-furnace-880x496.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Among the many items produced at the Catoctin Furnace were cannonballs used by the Continental Army during the Revolutionary War.</figcaption></figure>



Hanson had been enslaved at Catoctin until he was in his 30s, at which point he and other members of his family were sold to the operators of the Antietam Furnace, according to the records. 



After the end of slavery, Hanson worked at an iron forge. Known for his strength and skill, he died in Hagerstown at 82 in 1899. Elizabeth&#8217;s work first found mention of Hanson in Maryland archives from 1834. His name was included on an inventory from Catoctin Furnace that included the names of enslaved African Americans. On it was a 17-year-old boy named &#8220;Henson.&#8221;&nbsp;



The Catoctin Furnace has a significant place in American history. 



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="168" src="http://35.88.189.111/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg" alt="A historic marker of the Catoctin Furnace" class="wp-image-32667" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-300x168.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-768x431.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1024x575.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-880x494.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Historic-Marker-for-the-Furnace-1180x662.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



The first owner of the furnace was Thomas Johnson Jr. — a wealthy enslaver, the first non-colonial governor of Maryland, and a signer of the <a href="https://www.ushistory.org/declaration/related/assoc74.html">Articles of Association</a>, a precursor document to the Declaration of Independence. Iron production began in earnest in 1776. It contributed to the arming of the fledgling Continental Army — supplying 100 tons of shells for the Siege of Yorktown. While historians documented the industrial significance of the site, the history of enslaved workers there was not.&nbsp;



<h2 class="wp-block-heading" id="h-we-built-this">We Built This</h2>



Agnes and her family didn&#8217;t know their family’s contribution to that history. Agnes said that learning about her ancestors&#8217; contributions was important.



“Just to know that we actually were in history and that we made a difference,” she said. “We built this place.”&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="576" src="http://35.88.189.111/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg" alt="A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace." class="wp-image-32669" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1024x576.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-300x169.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-768x432.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-880x495.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/03/Touching-the-burial-ground-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Touching the burial ground.</figcaption></figure>



That history might have remained lost had it not been a forgotten burial ground, which had been unearthed in the 1970s during a freeway construction project. Archaeologists found the remains of more than 30 individuals buried there. No records existed of who those individuals were. Over the years, the Catoctin Furnace Historical Society has worked to preserve the history of the site and the people who worked there. Only with the advent of ancient DNA technology did an effort to learn more about the DNA of individuals begin.&nbsp;



This study offered the <a href="https://blog.23andme.com/articles/historical-dna-connection-to-early-enslaved-and-free-african-americans">first genetic link</a> between enslaved or freed African Americans working at the furnace and their living relatives, including Agnes.



&#8220;It&#8217;s so exciting to see my tree… to learn more about our ancestors,&#8221; Agnes said. It&#8217;s always good to know where we came from.&#8221;

A photo of one of Agnes's daughters's hands touching the burial ground at Catoctin Furnace.

23andMe Connects Living Family to Enslaved African American from Historic Site

Maybe it&#8217;s genetics, maybe not, but Hannah and her dad, Oscar, both share interests in science and athletics.



Hannah is an avid runner. Her dad has always been active, whether it&#8217;s playing soccer or distance cycling. A patent lawyer by profession, Oscar is also captivated by science and holds a master&#8217;s degree in applied molecular biology. 



For her part, Hannah, a genetic counselor at Lemonaid Health, Inc., part of the 23andMe family, can&#8217;t remember a time when she wasn&#8217;t interested in genetic science. It happened early after her identical twin younger brothers were born. 



&#8220;I actually used 23andMe back in 2015,&#8221; Hannah said. &#8220;But I&#8217;ve been interested in genetics my whole life. I&#8217;m captivated by the intersection of genetics and health.&#8221;



That sort of sums up her dad&#8217;s outlook, too. Along with their shared interest, Hannah and her dad learned from using 23andMe that they shared something else: an increased genetic likelihood of developing type 2 diabetes. 



<h2 class="wp-block-heading" id="h-like-father-like-daughter">Like Father, Like Daughter</h2>



We wanted to share Hannah and Oscar&#8217;s story for Father&#8217;s Day this year. Hannah gifted her dad a 23andMe kit that revealed health insights that benefited both of them.



&#8220;You have these two generations of individuals,&#8221; Hannah said. &#8220;Myself, and my father, and we all have this in common. Knowing that helps to highlight how important it is for us to each have a healthy lifestyle and remain active.&#8221;



<h2 class="wp-block-heading" id="h-an-unexpected-risk-addressed">An Unexpected Risk Addressed</h2>



Hannah and her dad are fit, lean, healthy, and active. You might not expect that they had this predisposition toward type 2 diabetes. But like most health conditions, type 2 diabetes is influenced by several factors, including genetics, diet, activity levels, and whether one can maintain a healthy weight. 



Sometimes, a person&#8217;s ancestry and family history is also essential in understanding a predisposition for certain conditions. Rates of type 2 diabetes are higher among people with African, Indigenous American, Asian, Latino, and Pacific Islander ancestry. Oscar is Filipino. 



One key indicator for those at risk for type 2 diabetes is a blood test called hemoglobin A1C (HbA1C). It measures a person’s average blood sugar (glucose) level.



&#8220;I make sure that every year I get a blood test, and one of the first things I do is check my A1C number because it is high,&#8221; Oscar said. &#8220;It&#8217;s something I watch along with my diet.&#8221;



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



Because Hannah&#8217;s A1C numbers have been up and down, her doctor has recommended getting tests every six months. 



This has been important for her health. However, Hannah also said it perfectly illustrates what she does almost every day as a genetic counselor—reminding people that their health is influenced by the interplay of their genetics, lifestyle, and environment. Understanding that and your family health history can go a long way to understanding what you should be aware of and actions you could take toward prevention. 



Like her dad, it motivates her to make healthier choices and avoid processed foods and too much sugar. Seeing that she has a genetic predisposition is also motivating.



&#8220;I feel like that&#8217;s the real power of these results in a preventative sense,&#8221; she said. &#8220;The genetic result gives clarity, puts it front and center, and motivates me. It&#8217;s very powerful.&#8221;



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



Explore how genetics impacts your health and the traits you share with your family. Find out <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe has to offer here</a>.

Hannah and Her Father

It&#8217;d been 43 years since the last time Kim held her son.&nbsp;



In all those decades, she wondered what had happened after she&#8217;d given him up in a private adoption as a scared 15-year-old girl. Kim&#8217;s life turned out well: She married and has two wonderful daughters and grandkids, but the thought of her son and the questions never left her.&nbsp;



<h2 class="wp-block-heading" id="h-a-good-person">A Good Person</h2>



Did he have a good life? Did his parents love him? Was he happy?



&#8220;You know, the only thing I could ever think about in my head was, &#8216;I just want him to be alive and be a good person,'&#8221; Kim said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="284" height="300" src="http://35.88.189.111/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png" alt="Kim and her son Jason soon after meeting in person for the first time." class="wp-image-32850" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-284x300.png 284w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-768x813.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-968x1024.png 968w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason-832x880.png 832w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/04/Kimberly-Ramos-and-Jason.png 1066w" sizes="auto, (max-width: 284px) 100vw, 284px" /></figure>



With the help of 23andMe and her daughter Jenny, Kim could answer those questions. Most importantly, she was able to embrace her son, Jason, for the first time and see the wonderful father and person he&#8217;d become.&nbsp;



Their first in-person meeting was at a gas station near Des Moines, a random halfway point between where Kim had been in Minnesota and Jason in Missouri. Kim found a friendly cashier to record the moment on her cellphone, and you can hear the cashier’s sweet comments while she’s filming.&nbsp;



<h2 class="wp-block-heading" id="h-a-long-embrace">A Long Embrace</h2>



In the video, you can see their minute-long embrace in the aisles between the chips and soda fountain and the emotion welling up in them. Kim cries and pulls back to look into Jason&#8217;s eyes and touch his cheeks as the two — mother and son — soak in the moment.



For Jason, it was the first time he had looked at someone besides his kids who looked like him. 



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Kim and Jason First Hug" width="500" height="281" src="https://www.youtube.com/embed/ERbWCvwZ-Ao?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>



&#8220;That was like, &#8216;Wow,'&#8221; he said.



Their story was unexpected for both of them. Jason always knew he had been adopted, but he wasn&#8217;t looking for his biological parents. Raised in a loving Midwest home with four siblings, who also were adoptees, Jason didn&#8217;t feel the need to go searching. He had questions, but he wasn&#8217;t looking.&nbsp;



Then, in late 2022, his wife, Elizabeth, gave him a 23andMe kit for Christmas. The two, who met and fell in love in high school, have three children and one grandchild. Elizabeth survived a breast cancer battle starting in 2019, and now in their 40s, the couple wanted to know more about their health.&nbsp;



<h2 class="wp-block-heading" id="h-looking-for-health-information">Looking for Health Information</h2>



Jason, who had no family health history, thought it was vital for him and his children.



&#8220;If you grew up with a mom and dad and brothers and sisters and aunts and uncles and grandparents, you&#8217;d know if there was anything you should be aware of,&#8221; he said.



Jason used 23andMe to see if he had any genetic predispositions that would concern him or his three children and one grandson.



&#8220;So, the motivation was, &#8216; Let&#8217;s (learn more) for (the kids) sake,’&#8221; he said.



He did get some health information indicating a higher likelihood of developing type 2 diabetes, but he&#8217;d also opted into DNA Relatives. Opening DNA Relatives, he saw someone matched as a predicted niece. He messaged her almost immediately, and he got a response.



&#8220;I&#8217;m not your niece. I&#8217;m your half-sister. Our mom&#8217;s name is Kimberly.&#8221;



<h2 class="wp-block-heading" id="h-someone-searching-for-me">Someone Searching for Me</h2>



Kim&#8217;s daughter Jenny knew all about her mom giving up a son at 15. She was able to fill Jason in on his biological mom&#8217;s life.



&#8220;It was unbelievable, you know, because I wasn&#8217;t looking for one, and it happened so fast,&#8221; Jason said. &#8220;It was literally within a minute or two that she responded, which blew my mind.&#8221;



The two quickly connected on the phone and talked. Jenny was in Nebraska, and Jason was at home in Missouri. So much was loaded into Jenny&#8217;s response and their conversation on the phone.



&#8220;Like, I just had no idea that there was somebody out there looking for me, you know? So, yeah, it&#8217;s hard to imagine all that when you&#8217;re an adoptee,&#8221; Jason said.



<h2 class="wp-block-heading" id="h-mom-are-you-sitting-down">Mom, Are You Sitting Down?</h2>



They&#8217;d talked in the evening, but Jenny waited until morning to call Kim.



&#8220;Mom, are you sitting down,&#8221; she said.



Kim, concerned something was terribly wrong, sat down and braced herself. Her husband stood by, concerned.



&#8220;Mom, I found your son,&#8221; Jenny said.



&#8220;We were both crying and talking,&#8221; Kim said. It took me a while to catch my breath, but as soon as I did, I called (Jason), and it&#8217;s been like it was all meant to be.&#8221;



They eventually arranged to meet in person. Kim and her husband now live in Florida but had been in Minnesota and were on a road trip to see their daughter in Nebraska, so she and Jason arranged to meet at a road stop gas station about midway.&nbsp;



<h2 class="wp-block-heading" id="h-building-a-relationship">Building a Relationship</h2>



For Kim, getting to know Jason, learning about his upbringing, meeting his family, and having them embrace her has given her peace. She&#8217;s building relationships with them that are expanding her family. Jason and his wife have visited Kim and her husband in Florida. They all spent time with Jason&#8217;s family in Missouri.



&#8220;His entire family was there to meet us, and I cannot tell you how nervous I was to meet them, but I got the best hugs and love from everybody,&#8221; Kim said. &#8220;I&#8217;m so thankful these lovely people adopted Jason.&#8221;



They&#8217;re trying to build new family traditions, but Kim said there isn&#8217;t a rush.



&#8220;I don&#8217;t need to hurry anything,&#8221; she said. &#8220;We&#8217;re a family now. We&#8217;re together, and we&#8217;re not going anywhere.&#8221;



Jason knows that many adoptees never get the opportunity to meet their birth mom or build a relationship. Maybe they never connect; if they do, it isn&#8217;t a welcoming experience.&nbsp;&nbsp;



&#8220;I didn&#8217;t even realize anything was missing in my life, but now I feel complete.&#8221;



<h2 class="wp-block-heading" id="h-discover-more-with-23andme">Discover more with 23andMe</h2>



Not everyone is searching for family, but <a href="https://www.23andme.com/dna-ancestry/">23andMe&#8217;s Ancestry Service </a>can help you learn your genetic connections to more than 3000 geographic regions or your connections to DNA Relatives with whom you share DNA. 



If you want to go deeper, <a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry</a> gives you all the great insights of the Ancestry Service, plus more than 150 personalized reports with information to help you manage your health. 



Learn more about <a href="https://www.23andme.com/compare-dna-tests/">all that 23andMe offers here</a>.

A Mother and Son Reunion

Emily&#8217;s deep curiosity drew her to try 23andMe, but she didn&#8217;t anticipate being floored by what she would learn.



&#8220;I was interested in the health information, of course,&#8221; said Emily, a mother of three who runs a small business and farm in Ohio with her husband. &#8220;But I guess the bigger part of why I tested is I&#8217;m just curious. I&#8217;m interested in history, genealogy, science, and the fun stuff that DNA can tell you. I didn&#8217;t expect this.&#8221;



Her results offered her a layer of information about her health and traits, and then something entirely unexpected expanded what she understood about herself and her family.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="769" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg" alt="" class="wp-image-32429" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-scaled.jpeg 1923w" sizes="auto, (max-width: 769px) 100vw, 769px" /></figure>



She first focused on the health reports when she got her results in early 2023. Emily, who is in her 30s, was increasingly aware that prevention was a much better approach to her health than simply treating something after you&#8217;ve already gotten sick. She wanted to know if she had any genetic health risks for things like <a href="https://blog.23andme.com/articles/23andme-updates-brca1-2-report">breast and ovarian cancer</a>*, <a href="https://www.23andme.com/en-eu/topics/health-predispositions/hereditary-thrombophilia/">blood clots</a>*, or her likelihood for certain <a href="https://blog.23andme.com/articles/heart-health-2">heart </a>conditions that she should know about and try to prevent with the help of her doctor.&nbsp;



She learned instead that she had an increased genetic likelihood for type 2 diabetes. It surprised her because she&#8217;s active and in good shape. But while lifestyle and diet play a significant role in whether one develops type 2 diabetes, genetics is also a factor.



&#8220;It&#8217;s something for me to keep an eye on and take seriously,&#8221; said Emily, who is very health conscious. &#8220;That was probably the most valuable health information for me.&#8221;



<h2 class="wp-block-heading" id="h-a-dna-surprise">A DNA Surprise</h2>



After learning a bit more about her health, Emily turned to her ancestry reports. That was when her jaw hit the floor.



&#8220;I saw that I shared 25 percent of my DNA with someone I didn&#8217;t know,&#8221; Emily said.



Customers have the option of opting into the DNA Relatives feature. DNA Relatives connects customers to other 23andMe customers who have also opted in, from close relatives to more distant third or fourth cousins.



In Emily&#8217;s case, she and an unknown relative named Eric shared 25 percent of their DNA. The DNA Relative feature predicted Eric was her uncle. Emily is in her 30s, while Eric is in his 50s. She called her sister.&nbsp;



At first, she wondered if maybe her grandfather had had a child they never knew about, but quickly looking at a dropdown list of other relatives who share 25 percent, she saw that half-brother was one of them. That made more sense. Then, she read the information Eric shared in his profile. He had been adopted and didn&#8217;t know much about his birth parents, only that his mom was a teenager when he was born.&nbsp;



Emily wanted to understand the connection, so she sent Eric a message.&nbsp;



<h2 class="wp-block-heading" id="h-a-conversation-begins">A Conversation Begins</h2>



Eric responded quickly, and the two exchanged messages back and forth before getting on the phone to talk the next day. They quickly determined that Eric was Emily&#8217;s half-brother.



&#8220;I never dreamed I&#8217;d find a brother,&#8221; she said.



They quickly determined that perhaps when Emily&#8217;s dad was a 16-year-old high school student, he&#8217;d fathered a son he didn&#8217;t know about. Eric knew his birth mother&#8217;s name. Many years ago, he&#8217;d tried to contact her or her family, but her family turned him away.&nbsp;



He learned that she had passed away sometime after he&#8217;d reached out to her family. Emily wanted to see if her dad knew the name, so she found time to talk to her dad privately. She asked him if he remembered the woman&#8217;s name. He did. She told him about Eric. He was surprised but not as surprised as she thought he&#8217;d be. They then told Emily&#8217;s mom.&nbsp;



Emily&#8217;s dad then explained that he&#8217;d had a girlfriend for two years in high school. They were both very close. Her dad had had a rough couple of years after his mom had died when he was 12. He was kind of on his own, and at least from the outside, it might not have looked like he had a future. At some point, after he&#8217;d been in a bad car accident, his girlfriend&#8217;s father asked him what his intentions were toward his daughter. He&#8217;d told him he had strong feelings for her, but soon after that, the family moved. The relationship ended after that. Looking back, Emily said her father thinks that maybe his girlfriend&#8217;s parents whisked her away, fearing their daughter might marry someone with few prospects. It wasn&#8217;t long after that she had Eric and put him up for adoption.&nbsp;



<h2 class="wp-block-heading" id="h-building-family-nbsp">Building Family&nbsp;</h2>



While Emily wanted to be careful and sensitive during this process, she felt that her mom and dad were open to talking about it all and even to Eric.&nbsp;



At some point, after learning more about the back story, Emily got Eric on the phone.



After talking with everybody, Emily gave her dad some private time to talk to Eric and answer some of his questions.



&#8220;Hearing that they all appreciated how I handled it was important for me,&#8221; Emily said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg" alt="" class="wp-image-32426" style="aspect-ratio:1;object-fit:cover" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-887x1180.jpeg 887w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-768x1022.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-769x1024.jpeg 769w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-661x880.jpeg 661w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-scaled.jpeg 1923w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Not too long after, they all met at a park and had coffee. Soon, they were talking regularly. Emily&#8217;s dad, who liked to write poems, sent a couple of letters to Eric with poems he&#8217;d written. It was something he&#8217;d done for a long time for his daughters. Now they talk almost every day. A few months in, Eric and his wife came over for a cookout to meet the extended family, cousins, aunts, and uncles.&nbsp;



&#8220;Everyone welcomed him right away,&#8221; Emily said. &#8220;It&#8217;s like family now.&#8221;



<h2 class="wp-block-heading" id="h-building-relationships">Building Relationships</h2>



But they are all still getting to know each other. Emily and her sister and relatives immediately noticed the resemblance. Eric does look like one of Emily&#8217;s uncles. Everyone said he was family once they saw his picture or him in person. 



But there are other things beyond appearances. Eric owns a print shop, and there&#8217;s an artistic bent in the family, Emily said. There are mannerisms and this enormous love of animals that they all share. Eric has several dogs. Emily owns a menagerie of animals on the farm and is especially fond of parrots. Over time, Eric started referring to their dad as Pop, which Emily and her sister&#8217;s children call their dad. It also happens to be how people once shortened their Slovak last name. It&#8217;s as if they were all meant to connect.



&#8220;There are familial similarities, personality, ways we interact, and things,&#8221; said Emily. &#8220;There hasn&#8217;t been any awkwardness.&#8221;



<h2 class="wp-block-heading" id="h-connecting-it-all">Connecting it all</h2>



Emily is most proud that what could have been difficult or potentially painful was the opposite. She understands that this kind of family surprise doesn&#8217;t always end well. It can mean different things to different people.



She points out that Eric, who didn&#8217;t have connections to their biological family, is learning things many of us take for granted.&nbsp;



&#8220;Our genetics say so much about us and our family,&#8221; said Emily. &#8220;I mean, for someone who is adopted, knowing this health stuff can be so important. How would an adoptee know if, say, their grandfather had a thyroid condition or their dad had diabetes?&#8221;



But then there are many seemingly little things, &#8220;breadcrumbs,&#8221; as Emily says, that suddenly resonate or give context to their lives—things like personality, interests, and even their Slovak heritage.



&#8220;For him, it&#8217;s probably more helpful than I can imagine,&#8221; she said.



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



<h2 class="wp-block-heading" id="h-disclaimer">Disclaimer</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.&nbsp;



<h2 class="wp-block-heading" id="h-warnings-amp-limitations-nbsp">Warnings &amp; Limitations:&nbsp;</h2>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. 



This report does not represent most of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers. The absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. 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 23andme.com/test-info/

Using DNA to Explore Health and Family Connections

Our customers have redefined prevention for us over the years. Hundreds of them have written to us, telling stories of how they’ve become the hero of their health journey. 



We are continually so inspired by their stories we recently launched a new campaign called The Hero Gene that celebrates some of those customers in their own words.



<h6 class="wp-block-heading" id="h-kenzie-and-shannon-s-brca1-story">Kenzie and Shannon’s BRCA1 Story</h6>



Kenzie and her mom, Shannon, are closer than the average mother and daughter, sharing a love of traveling together and their favorite foods. Kenzie knew there was Ashkenazi Jewish heritage in her background, but with no family history of breast cancer, she did not think there was a need to get screening for BRCA variants. Through 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report,* Kenzie learned she had a BRCA1 variant that put her at a greatly increased risk of developing breast and ovarian cancer.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1011" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg" alt="Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie's 16th birthday." class="wp-image-31684" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1011x1024.jpeg 1011w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-296x300.jpeg 296w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-768x778.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-869x880.jpeg 869w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1-1165x1180.jpeg 1165w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/image0-1.jpeg 1170w" sizes="auto, (max-width: 1011px) 100vw, 1011px" /><figcaption class="wp-element-caption">Photos of Shannon recovering from cancer treatment with Kenzie at her side. Image in upper left was taken on Kenzie&#8217;s 16th birthday.</figcaption></figure>



Women with one of these variants have a <a href="https://www.23andme.com/brca">45-85 percent chance</a> of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. One of her first thoughts was, “Could my mom have cancer and not know it?” 



Kenzie immediately knew she had to call her mom.&nbsp;&nbsp;



“Mom, I have this gene, and I think you need to get tested.” 



Shannon made an appointment with her oncologist, where she shared the news about Kenzie’s report.  The oncologist referred her to a genetic counselor, who immediately set Shannon up for genetic testing. In addition, the genetic counselor suggested Kenzie talk to her doctor right away for follow-up testing.  After doing so, both were able to take steps to minimize their risks. While Kenzie is opting to go for a less aggressive route of frequent scans and discussing family planning options, Shannon (a cancer survivor) decided to go ahead with preventative surgeries to lower her risk of developing BRCA-associated cancers.  



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="683" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg" alt="A phot of Kenzie and her mom Shannon." class="wp-image-31685" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-683x1024.jpeg 683w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-200x300.jpeg 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-768x1152.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-587x880.jpeg 587w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-787x1180.jpeg 787w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/04/IMG_3604-scaled.jpeg 1707w" sizes="auto, (max-width: 683px) 100vw, 683px" /><figcaption class="wp-element-caption">Kenzie, left, with her mom Shannon.</figcaption></figure>



The experience has taught both women how important it is to educate themselves about their health risks, to be proactive about their well-being, and to advocate for themselves to ensure they get the care they need.&nbsp;



“Kenzie’s test and me being able to find out that I was BRCA positive was lifesaving,” said Shannon.&nbsp;



As they prepare to share another holiday together, closer than ever, Kenzie couldn’t help but beam when talking about Shannon, “I&#8217;m really proud of my mom, she&#8217;s taken her health into her hands. Her life is the most important thing to me. She wanted to show me that she will survive.”



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
https://www.youtube.com/watch?v=bI6nxWiqpGE
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<h6 class="wp-block-heading" id="h-melissa-s-f5-story">Melissa’s F5 Story</h6>



Melissa developed symptoms of a pulmonary embolism (PE), a blood clot in the lung, after a cross-country flight from Washington to Boston for a nurses conference. As a nurse, Melissa knew her symptoms weren&#8217;t typical but knowing she had an increased likelihood to develop harmful blood clots based on a factor V Leiden variant found by her 23andMe Hereditary Thrombophilia Genetic Health Risk report* prompted her to go to the ER before taking a return flight home.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-2.jpg" alt="" class="wp-image-32365" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-2-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



Trusting her nurse’s instinct, she pushed to get evaluated a PE. 



“I am not typically … insistent, but I was really insistent on this. I am absolutely sure it&#8217;s going to happen again and I may not have another chance. And I wasn&#8217;t willing to take that chance again.” They confirmed via a blood test and CAT scan that she had developed a PE.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="698" height="931" src="http://35.88.189.111/wp-content/uploads/2023/11/Melissa-1.jpg" alt="" class="wp-image-32364" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1.jpg 698w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-225x300.jpg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2023/11/Melissa-1-660x880.jpg 660w" sizes="auto, (max-width: 698px) 100vw, 698px" /></figure>



She began taking a blood thinner right away so she could fly home. Melissa credits her knowledge of the gene with empowering her to take her health into her own hands, which means even more this time of year.  “My family is sacred to me. It truly is all that matters. I would not have been able to meet my new granddaughter. I truly believe I’m here because of 23andMe. Because I was aware of that gene, and my doctors were aware of that gene, that continues to save my life.”



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https://www.youtube.com/watch?v=-zLbFwbXH7c
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<h6 class="wp-block-heading" id="h-which-gene-could-empower-you">Which gene could empower you?</h6>



As we’ve heard from these and so many more customers, prevention doesn’t have to be a burden. In fact, it shouldn’t be a burden. Prevention is about advocating for yourself, and your health, so you can continue to live an incredible life for you, your family and friends. That starts with genetic insights that could lead to early detection. We hope you find your customer story. Your gene or genes that empower you, inspire you, help you and that could potentially save your life at the time you need the information most. #prevention



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



<h6 class="wp-block-heading" id="h-note">Note</h6>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is&nbsp; 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. 



<h6 class="wp-block-heading" id="h-warnings-amp-limitations">Warnings &amp; Limitations: </h6>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info.&nbsp;

Your Hero Gene

Building on our <a href="https://blog.23andme.com/articles/new-brca-report">first FDA authorization</a> for a direct-to-consumer genetic health risk test for cancer, 23andMe received clearance this week to expand the number of genetic variants covered in our BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report.*&nbsp;



These additional variants are all known to be associated with higher risk for breast, ovarian, prostate and pancreatic cancer. Adding these variants will increase the number of people who may benefit from the report.



The clearance allows 23andMe to include 41 more variants than the three already included in the BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report. Those three variants are most common in people of Ashkenazi Jewish descent.&nbsp;



“23andMe is the first and only company with FDA clearance to provide information directly to consumers on genetic risk for cancer, without a prescription,” said Kathy Hibbs, 23andMe’s Chief Administrative officer. “This clearance also allows us to expand access to this important information to traditionally underserved populations.”&nbsp;



<h6 class="wp-block-heading" id="h-new-clearance">New Clearance</h6>



In total, the 44 genetic variants account for about 30-to-40 percent of cancer-related BRCA variants among people of African American, non-Ashkenazi European, and Hispanic/Latino descent, and also several variants found in people of East Asian and South Asian descent. Having any of these variants increases your cancer risk, regardless of your ancestry.



The new clearance also represents a continued commitment to pioneer this work with the FDA while expanding access to crucial genetic health information for people. 23andMe received the first <a href="https://www.fda.gov/news-events/press-announcements/fda-authorizes-special-controls-direct-consumer-test-reports-three-mutations-brca-breast-cancer">FDA authorization for a direct-to-consumer genetic test for cancer in 2018</a>. The latest clearance marks 23andMe’s fourth FDA clearance for hereditary cancer risk, and the ninth clearance for direct-to-consumer genetic health risk reports offered by 23andMe.&nbsp;



Beyond this most recent 510(k) clearance, the FDA also granted 23andMe the first-ever Predetermined Change Control Plan (PCCP). This will allow 23andMe to add more validated BRCA1 and BRCA2 variants and associated cancer information to its BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report without additional premarket review if those variants meet the same rigorous analytical and clinical requirements demonstrated in the recent clearance. That decision is under a new regulatory policy adopted by FDA this spring focused on using <a href="https://www.fda.gov/regulatory-information/search-fda-guidance-documents/marketing-submission-recommendations-predetermined-change-control-plan-artificial">artificial intelligence and machine learning-enabled software</a> for patient health.&nbsp;



“We are proud to continue pioneering a path for greater access to health information,” said Hibbs. “Becoming the first company to receive PCCP clearance from the FDA under this novel approach will enable us to increase the pace at which we improve and expand our BRCA report.”&nbsp;



<h6 class="wp-block-heading" id="h-genetic-health-risk-report">Genetic Health Risk Report</h6>



New and existing 23andMe Health + Ancestry Service customers tested on our <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a> will have access to the expanded BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report once it is updated. We plan to update this report with 41 additional variants later this year. Customers who have not already opted in to their BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report must opt in to receive the updated report. The report also includes an education module to ensure customers are fully informed on what they can learn from this report and how to use the results.



The 23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report utilizes the same informational concepts previously demonstrated in studies submitted to the FDA for its Genetic Health Risk reports. Those studies showed a 90 percent or greater overall user comprehension in a demographically diverse population. 23andMe also carried out robust analytical validation studies: Each variant tested demonstrated greater than 99 percent concordance with Sanger sequencing, and greater than 99 percent reproducibility when tested under different laboratory conditions. While the clearance expands the number of genetic variants covered in 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report,* it does not test for all BRCA1 and BRCA2 variants known to increase cancer risk. Anyone with a family history of cancer should talk to their doctor to learn whether comprehensive genetic testing is right for them.&nbsp;



Learn more about 23andMe’s Health+Ancestry Service and how your <a href="https://www.23andme.com/dna-health-ancestry/">DNA can influence your health here</a>.&nbsp;



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



<h6 class="wp-block-heading" id="h-warnings-amp-limitations">*Warnings &amp; Limitations:</h6>



The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person’s overall risk of developing any type of cancer. It 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 treatments. 



<h6 class="wp-block-heading" id="h-warnings-amp-limitations-0">Warnings &amp; Limitations: </h6>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action.



<h6 class="wp-block-heading" id="h-forward-looking-statements">Forward-Looking Statements</h6>



This blog contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, including, without limitation, statements regarding the future performance of 23andMe’s businesses in consumer genetics and therapeutics and the growth and potential of its proprietary research platform. All statements, other than statements of historical fact, included or incorporated in this blog, including statements regarding 23andMe’s strategy, financial position, funding for continued operations, cash reserves, projected costs, plans, potential future collaborations, product development and launches, the successful commercialization and market acceptance of new products and objectives of management, are forward-looking statements. The words &#8220;believes,&#8221; &#8220;anticipates,&#8221; &#8220;estimates,&#8221; &#8220;plans,&#8221; &#8220;expects,&#8221; &#8220;intends,&#8221; &#8220;may,&#8221; &#8220;could,&#8221; &#8220;should,&#8221; &#8220;potential,&#8221; &#8220;likely,&#8221; &#8220;projects,&#8221; &#8220;predicts,&#8221; &#8220;continue,&#8221; &#8220;will,&#8221; &#8220;schedule,&#8221; and &#8220;would&#8221; or, in each case, their negative or other variations or comparable terminology, are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. 



These forward-looking statements are predictions based on 23andMe’s current expectations and projections about future events and various assumptions. 23andMe cannot guarantee that it will actually achieve the plans, intentions, or expectations disclosed in its forward-looking statements and you should not place undue reliance on 23andMe’s forward-looking statements. These forward-looking statements involve a number of risks, uncertainties (many of which are beyond the control of 23andMe), or other assumptions that may cause actual results or performance to differ materially from those expressed or implied by these forward-looking statements. The forward-looking statements contained herein are also subject generally to other risks and uncertainties that are described from time to time in the Company’s filings with the Securities and Exchange Commission, including under Item 1A, &#8220;Risk Factors&#8221; in the Company’s most recent Annual Report on Form 10-K, as filed with the Securities and Exchange Commission, and as revised and updated by our Quarterly Reports on Form 10-Q and Current Reports on Form 8-K. The statements made herein are made as of the date of this blog and, except as may be required by law, 23andMe undertakes no obligation to update them, whether as a result of new information, developments, or otherwise.

A image of double helix showing a variant

23andMe Improves BRCA Report for Communities Underrepresented in Genetic Testing

Like all good Christmas stories, this one begins with a gift.



Kathy Clemenzi’s son gave her a 23andMe Health + Ancestry Kit for the holidays. He thought that Kathy, the self-appointed “family historian,” might enjoy using the kit to learn more about their ancestry and confirm some family stories passed down through the generations.



It was the perfect present.&nbsp;



“I’m always the one that looks into all the genealogy things and shares all the stories,” Kathy explained. “I even found out I’m 80 percent British and Irish – more than I expected!”



<h6 class="wp-block-heading" id="h-a-medical-mystery">A medical mystery</h6>



Diving into her family history provided a welcome distraction during a dark period in Kathy’s life. For two years, her older brother had been suffering from an unknown illness that was slowly robbing him of his ability to travel and play golf, something he loved. It left him weak and dizzy. Even the simplest movements, like walking or climbing stairs, became difficult.



<figure class="wp-block-image aligncenter is-resized"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/image0-768x1024.jpeg" alt="" class="wp-image-30937" width="509" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/12/image0-768x1024.jpeg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/12/image0-225x300.jpeg 225w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/12/image0-660x880.jpeg 660w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/12/image0-885x1180.jpeg 885w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2022/12/image0.jpeg 1536w" sizes="(max-width: 768px) 100vw, 768px" /></figure>



Desperation drove him from one specialist to the next — an ear, nose, and throat physician, a cardiologist, a neurosurgeon, a pulmonologist, and finally, a neurologist. But no one could identify the cause of his decline. His doctors were stumped.



“He was disintegrating,” Kathy recalled. “And no one could figure out why.”



<h6 class="wp-block-heading" id="h-a-promising-clue">A promising clue</h6>



Then a life-changing alert appeared on Kathy’s phone.



“One day, I got a message on my phone from 23andMe about a new genetic health risk report,” she said.



She logged in and clicked on her Hereditary Amyloidosis (TTR-Related) Genetic Health Risk report* and saw that she had a variant that increased her risk of developing the condition.



“I didn’t think much of [my reports] at first,” Kathy said. But she decided to share the report with her brother, who then shared it with his neurologist at the University of Massachusetts in Worcester.



As the neurologist combed through the 23andMe reports, her eyes lit up. “I think this might be what you have,” the neurologist told him. “You need to see a geneticist.”



<h6 class="wp-block-heading" id="h-finally-a-breakthrough">Finally, a breakthrough</h6>



Genetic testing confirmed the neurologist’s hunch: Kathy’s brother had<a href="https://www.23andme.com/topics/health-predispositions/hereditary-amyloidosis/">&nbsp;TTR-related hereditary amyloidosis</a>.



TTR-related hereditary amyloidosis is a rare genetic condition caused by the build-up of a protein called transthyretin (TTR) in the body’s tissues and organs. This protein build-up, called amyloidosis, can damage the nerves, the heart, and other parts of the body.Symptoms vary widely and depend on how much–and where–the build-up of protein occurs. Because the condition can manifest in so many ways,<a href="https://www.ncbi.nlm.nih.gov/books/NBK1194/">&nbsp;misdiagnosis</a>&nbsp;is common.



<h6 class="wp-block-heading" id="h-slow-improvement">Slow improvement</h6>



A doctor referred Kathy’s brother to the Boston Amyloidosis Center, where he now receives an intravenous infusion of medication every three weeks to manage his symptoms.



“Right now there’s no cure, but he’s gained back 40 percent of his movement,” Kathy reported. Simply walking up steps or getting in and out of the car independently and other small milestones are cause for celebration.&nbsp;



“He’s getting better a little bit at a time. It’s no longer a death sentence,” she said.&nbsp;



Kathy and the rest of her siblings underwent clinical genetic testing for TTR-related hereditary amyloidosis. Her younger sister also learned that she has the same variant, which puts her at increased risk of developing the condition.&nbsp;



Though symptom-free, they travel to Boston regularly for testing and checkups. “We’re famous [at the Amyloidosis Center],” Kathy joked. “When we go, they know exactly who we are–we’re the ones with the 23andMe history!”



<h6 class="wp-block-heading" id="h-writing-a-new-chapter">Writing a new chapter</h6>



Faced with these unexpected and challenging findings, Kathy and her siblings chose to write a new chapter in their family story. And they’ll share it with anyone who will listen.&nbsp;&nbsp;



“Love of family and curiosity started this journey,” Kathy explained. “If someone else hears this story and it saves another family–why not tell it?”



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



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is&nbsp; 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. &nbsp;The TTR-related hereditary amyloidosis genetic health risk report is indicated for reporting of V122I, V30M, and T60A variants in the TTR gene and describes if a person has variants associated with an increased risk of developing TTR-related hereditary amyloidosis.&nbsp; The majority of the variants included in this report have been most studied in people of African Americans, West African, Portuguese, Northern Swedish, Japanese, Irish, and British descent.

A Sister’s Gift

By Amanda McCorquodale
When I ordered my 23andMe kit, I thought genetic health information was simply another version of family health history gathered by doctors at every wellness visit. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2016/09/Email-Icon.jpg" alt="" class="alignright wp-image-24279" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/09/Email-Icon.jpg 168w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/09/Email-Icon-150x150.jpg 150w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
<h6>My Results Are In </h6>
Yet when the email arrived indicating that my results were ready, I was suddenly terrified to read them. 
&nbsp;
After all, learning that your body may have a hidden risk is tough to stomach. Heck, even James Watson, one of the scientists who discovered the double-helix structure of DNA, refused to find out whether he carried the genetic variant that would put him at a higher risk for late-onset Alzheimer’s disease. 

<h6>Do I Want to Know?</h6>
23andMe makes sure to put certain health results —the report that looks at your potential risk for late-onset Alzheimer&#8217;s disease for instance — behind many locked doors, so to speak, giving users the option to open them or keep them closed if they wish. Even if you decide to open these locked reports, 23andMe requires you to go through a tutorial to ensure you understand the reports before you open them. 
<div id="attachment_27955" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27955" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/mutyh-300x267.png" alt="" class="wp-image-27955 size-medium" width="300" height="267" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh-300x267.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh-768x684.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh-1024x913.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh-880x784.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh-1180x1052.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/mutyh.png 1600w" sizes="auto, (max-width: 300px) 100vw, 300px" />There is an additional opt-in process for viewing four of the Genetic Health Risk reports.</div>
Genetics is not deterministic, and 23andMe doesn’t diagnose anything, I reminded myself. They are pretty clear that even if you have a genetic variant that puts you at a higher risk for certain conditions, it’s only one of many factors that could lead to developing the condition or disease. Often, the genetic test only identifies a small set of variants associated with the disease – so even if no variant is detected, you still may be at some genetic risk for the condition. 
&nbsp;
<h6>Information About Me</h6>
23andMe has more than a dozen different reports on Health Predispositions, including genetic health risk reports. You have to opt-into viewing those reports. There are also four of the reports — the Late-Onset Alzheimer’s Disease Genetic Health Risk report*, the genetic health risk report on Parkinson’s Disease,* the BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report*, and the MUTYH-associated Polyposis Genetic Health Risk report* — that require an additional opt-in to unlock those results. Before doing that 23andMe has you review a tutorial, to ensure you carefully consider whether or not you actually want to see the results. After reviewing the tutorial, I decided to unlock those reports and face my genetic health information head-on.
&nbsp;
I learned that I have three genetic variants that may influence my chances of <a href="https://www.23andme.com/dna-health-ancestry/">developing certain health conditions</a>. I have a slightly increased risk for age-related macular degeneration (AMD).* I was not surprised as I knew of relatives who had developed this late in life, but I was disappointed to learn I had inherited this genetic predisposition to vision loss. 
&nbsp;
The results put my genetic risk in perspective, however. There are things I can do to decrease the chances of developing AMD. I learned that making changes to my diet, and other lifestyle choices like not smoking play a major factor in my overall risk. 
<h6>Mitigating Risks</h6>
My risk for developing AMD is also something I could pass onto my kids, but knowing about it now allows me and any of my family to make lifestyle changes that could help mitigate those risks over time. 
&nbsp;
My results also revealed that based on my genetics I have about a 35 percent chance of developing <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">type 2 diabetes</a> at some point in the next 40 years, which is considered a typical likelihood for someone of my ethnic background. Having developed gestational diabetes twice myself and knowing multiple family members with diabetes, I was surprised that my genetic likelihood wasn’t higher.
&nbsp;
More surprising is that I carry one of the two genetic variants associated with <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency/">alpha-1 antitrypsin deficiency</a>, a genetic condition I had never heard of that can lead to lung and liver disease.* According to my results, having just one of the variants is not associated with an increased risk. Yet, I wondered if having one variant could impact my health at all, so I made a note to ask my physician at my upcoming physical.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/SERPINA1-300x173.jpg" alt="" class="alignright size-medium wp-image-27974" width="300" height="173" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/SERPINA1-300x173.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/SERPINA1-768x444.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/SERPINA1-1024x592.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/SERPINA1-880x509.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2020/01/SERPINA1-1180x682.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
Looking at these different reports, I learned that I can take simple actions to mitigate my chances of developing these conditions. Genetics is important but often a small part of my overall health. 
&nbsp;
The results also put my long-term wellness in focus, and I found I was that much more motivated to pursue healthy habits such as eating healthy, getting enough sleep and exercise regularly.  
You can read the first post on this three-part series <a href="https://blog.23andme.com/23andme-and-you/23andme-how-to/taking-the-leap-into-my-dna-part-i/">here</a>.
Amanda McCorquodale is a freelance writer. Her work has appeared in Gourmet, Miami Magazine and Mental Floss. She previously worked as an associate editor at the Huffington Post and as an Arts and Culture Editor at the Miami New Times. She lives in New York with her family.
*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet US FDA requirements for genetic health risks and the 23andMe Type 2 Diabetes health predisposition report which is based on 23andMe research and has 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 for the purpose of reporting and interpreting genetic health risks and reporting 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. Warnings &amp; Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer. The two variants included in this report are most common in people of Northern European descent. These reports do not include variants in other genes linked to hereditary cancers and the absence of variants included in these reports do not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, visit  <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info</a>.

Taking a Leap Into My DNA: Part II

Genetic counselors are more in demand than ever, filling critical roles at healthcare institutions and companies across the country. However, with two to three job openings for every new genetic counselor who graduates, we’re facing a national workforce shortage.
&nbsp;
In fact, according to the <a href="https://www.bls.gov/ooh/healthcare/genetic-counselors.htm">U.S. Bureau of Labour Statistics</a>, the number of genetic counselors needed is expected to increase by 29 percent in the next ten years — which is much faster than average growth across other fields.
&nbsp;
At 23andMe, we’re committed to developing genetic reports that consumers can access on their own. However, we rely heavily on our genetic counselors to ensure that the information we share is both accurate and understandable. 
&nbsp;
So, in honor of <a href="https://www.nsgc.org/page/genetic-counselor-awareness-day">Genetic Counselor Awareness Day</a> (November 8), we’re profiling our very own genetic counselors at 23andMe who make the work we do possible. As an added bonus, we also asked what they love most about their role at 23andMe, especially since their path may not be what others consider “traditional” for those in the genetic counseling field. 
&nbsp;
<h5>Altovise Ewing, PhD, LCGC</h5>
 <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Ewing-photo-216x300.jpg" alt="" class="alignright size-medium wp-image-26686" width="216" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-216x300.jpg 216w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-768x1069.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-736x1024.jpg 736w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-632x880.jpg 632w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-848x1180.jpg 848w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/Ewing-photo-scaled.jpg 1839w" sizes="auto, (max-width: 216px) 100vw, 216px" />&#8220;As a Medical Science Liaison, I am able to meld my clinical genetic counseling, research and educator skills all into one valuable experience.  I am honored to engage in purpose-filled work that contributes to our ability to provide an optimal and potentially more inclusive experience for all customers.
Altovise is a licensed and board-certified genetic counselor with seven years of clinical and research experience in cancer genetics. She joined 23andMe in April 2018 as a Medical Science Liaison and focuses on distilling complex medical information for our customers. She’s also responsible for developing external relationships with key opinion leaders and educational development. Altovise holds a PhD in Human Genetics with a specialization in Genetic Counseling from Howard University and received a BA in Biology from Rhodes College. During her training, she spent time at the NIH with the National Human Genome Research Institute and the National Cancer Institute. She also had the privilege of providing genetic counseling services to patients at Walter Reed National Military Medical Center. 
&nbsp;
<h5>Stacey Detweiler, MS, LCGC</h5>
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-218x300.jpg" alt="" class="alignright wp-image-26687" width="230" height="316" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-218x300.jpg 218w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-768x1056.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-745x1024.jpg 745w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-640x880.jpg 640w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-858x1180.jpg 858w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/11/©PITER2017©PITER2017Stacey-Detweiler0057-copy-scaled.jpg 1862w" sizes="auto, (max-width: 230px) 100vw, 230px" />&#8220;I love the people! In my role, I have the opportunity to interact with people from all over the company.  Every day I’m working with people who are passionate about genetics and, just like me, they want to share that passion with others. Being part of a team focused on making genetics accessible and paving a path towards precision medicine is an honor and a joy.&#8221;
Stacey  is also on our Medical Affairs team and has four years of clinical and research experience in perinatal genetics. She’s an active member of the National Society of Genetic Counselors. 
As part of her role as a Medical Affairs Associate, she focuses on product, clinical and educational development &#8212; which means that she helps ensure our product includes consumer-friendly information that’s medically accurate. 
Prior to joining 23andMe in 2016, Stacey served as both a perinatal genetic counselor and clinical research coordinator at Rutgers-Robert Wood Johnson Medical School before providing clinical counseling at Palo Alto Medical Foundation. 
&nbsp;
<h5>Anne Greb, MS, CGC<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg" alt="" class="alignright 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" /></h5>
&#8220;For the past three decades I have eagerly anticipated this new era of genomic medicine. What I didn’t anticipate was this widespread popular interest in genetics as people seek to know more about their <a href="https://www.23andme.com/dna-health-ancestry/">health, ancestry</a> and other <a href="https://www.23andme.com/dna-ancestry/">human traits</a>. At 23andMe I have an opportunity to provide educational opportunities for healthcare providers so they take advantage of this enthusiasm and engage their patients in discussions about the role of genetics in health and wellness.&#8220;
&nbsp;
Anne is on our Medical Education team and specializes in developing content to educate health care professionals to better integrate personalized genetic information into the everyday care of their patients. Anne is a board-certified genetic counselor with over 25 years of experience in genetic counseling program leadership, medical education and administration. Most recently, Anne directed the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College where she led efforts to increase the program’s training capacity so more genetic counselors are available to meet the needs of patients and their families. She also served as president of the American Board of Genetic Counseling.
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Altovise, Stacey and Anne are critical members of our team, and we sure don’t give them much downtime. On Genetic Counselor Awareness Day, we’re particularly excited to show our support for their work but that doesn’t mean we aren’t sending our kudos their way every day, too. 
&nbsp;
 

&nbsp;

23andMe’s Team of Genetic Counselors

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

23andMe Adds New Genetic Health Risk Reports

23andMe recently started offering customers new Genetic Health Risk reports that have received<a href="https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm"> FDA authorization</a>. Below we’ve highlighted some important features in these reports to help you get <img loading="lazy" decoding="async" class="alignright size-full wp-image-25282" src="https://blog-api.23andme.com/wp-content/uploads/2017/05/1CEfC9m9AbODwKq19WcXmxVggXmrpuOA-1.png" alt="" width="355" height="600" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/1CEfC9m9AbODwKq19WcXmxVggXmrpuOA-1.png 355w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/1CEfC9m9AbODwKq19WcXmxVggXmrpuOA-1-178x300.png 178w" sizes="auto, (max-width: 355px) 100vw, 355px" />more out of them.


While the reports may have important information about your health, they also could raise issues you hadn’t considered. All customers are provided details on the type of information conveyed in the new reports before they decide whether to opt into seeing them or not.


For some serious conditions that do not currently have effective treatments or cures — namely <a href="http://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">late-onset Alzheimer’s disease</a> and Parkinson’s disease — 23andMe customers must take an additional step to opt-in to viewing these two reports. Customers can choose not to view them but still see all other health reports if they wish.
The extra step to opt-in to the reports on late-onset Alzheimer’s disease and Parkinson’s disease is meant to ensure that customers consider carefully whether or not they want to know about their genetic risk for these serious conditions.
If a customer moves forward with accessing their health information, it&#8217;s important to know that these reports are not intended to diagnose a disease or condition. Having a variant associated with an increased risk for a condition doesn’t mean you’ll get that condition.
Conversely, if you don’t have the variant it doesn’t mean you are free of risk. Your genetic risk for these conditions is but one of many factors, such as lifestyle, environment and family history, that play a role. (As with any test, it is also possible to receive a “Not Determined” result. This is rare, and can be caused by random test error or other factors that interfere with the test.)
Another important aspect of these reports is that 23andMe doesn’t test for all the possible genetic variants that could influence risk for these conditions. Even if a person&#8217;s report says that no variants were detected, that person could still have a variant not covered by the test that may affect risk for the condition. 23andMe&#8217;s reports include only variants that can be detected and validated on our genotyping chip, and the reports do not include many rare variants not available on our chip or variants that have not yet been discovered.

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<h5>
About the Reports</h5>

Each report is broken into a similar structure that includes your results, an explanation of what they mean, an overview of the condition, other factors that may influence risk, suggested next steps, and additional resources. This is all done in clear and easy to understand language, and the reports are structured in a way that allows you to go deeper into different sections to learn more if you wish.


The Overview page summarizes a person&#8217;s result, such as the number of variants detected and whether this is associated with increased risk, and provides brief but important points for understanding what the result means. This page also includes important information about what the test does and doesn&#8217;t do, and how a person&#8217;s ethnicity may matter. More information about the condition, including how common it is, typical signs and symptoms, and other risk factors are also highlighted. Many of these sections provide links to the Scientific Details page where customers can find more information and supporting references. The Overview page also provides quick links to genetic counseling, frequently asked questions, and printing to share with a healthcare professional.<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-25286" src="https://blog-api.23andme.com/wp-content/uploads/2017/05/1678_YQyfY6wqQPHf-RpZudNM6mTBLzQ.png" alt="" width="600" height="325" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/1678_YQyfY6wqQPHf-RpZudNM6mTBLzQ.png 600w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/05/1678_YQyfY6wqQPHf-RpZudNM6mTBLzQ-300x163.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
In the Scientific Details page you’ll find more information about the genes and variants tested, health risk estimates associated with those variants in different populations, and clinical and analytical performance of the test. There will also be detailed information about other factors that influence whether a person develops the condition. All scientific references supporting the information in the report are provided at the bottom of this page.

<h5>
Understanding Risk Estimates</h5>

Our Genetic Health Risk reports focus on the general level of risk associated with a person&#8217;s genetic result. So for example, the report might state that you are &#8220;not likely at risk,&#8221; or that you are at &#8220;increased risk&#8221; based on the variants tested. But in some cases the report may also provide specific numerical estimates of the risk. These estimates may also be described in more detail in the &#8220;Test Interpretation&#8221; section of the Scientific Details page, and depend on available scientific studies. For this reason, the exact types of risk estimates, and the populations or ethnicities that they apply to, differ from report to report.

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The types of risk estimates found in our reports may include lifetime risks, odds ratios, and likelihood ratios. Lifetime risk estimates are the most straightforward to understand — they simply represent the chances of developing the condition by a certain age. Similarly, incidence represents the number of people diagnosed with a condition in a given time period. Odds ratios and likelihood ratios are a bit different in that they reflect the difference in risk between one scenario and another scenario. Odds ratios usually compare the odds of a disease or condition in one group (such as people with a risk variant) to the odds in a reference group (such as people without the risk variant). Likelihood ratios compare the probability of a disease or condition given a test result to the probability prior to knowing the test result.
All types of risk estimates are applicable only to the populations or ethnicities specified in each report, though people of other ethnicities can view the information for educational purposes.
An important aspect to understand about risk estimates is that, being estimates, they have some amount of uncertainty. This is often conveyed using a &#8220;confidence interval,&#8221; which shows the range of possible likely values for that risk estimate. The wider that range, the less certain the specific risk estimate is.  The confidence intervals for risk estimates based on published studies can be found in the references for those studies. The confidence intervals for risk estimates calculated by 23andMe can be found by clicking the button &#8220;See 95 percent confidence intervals&#8221; underneath those risk tables.

<h5>
A Final Note</h5>

We strive to help our customers get the most out of their experience, and so each Genetic Health Risk report includes Frequently Asked Questions tailored to each customer&#8217;s results, in addition to our Customer Care center which is always available.
While 23andMe Genetic Health Risk reports do not diagnose diseases or conditions, they do include potentially important information that you could use to help be more proactive about your health and engage in your own wellness. That may also include talking to your doctor, a genetic counselor or other health professional. <a href="http://aboutgeneticcounselors.com">Genetic counselors</a> in particular are well-suited to help people who have questions about genetic risks and genetic testing. If you have specific questions or concerns about your health, we encourage you to contact a healthcare professional.

Learn More About 23andMe’s New Genetic Health Risk Reports

The U.S. Food and Drug Administration granted 23andMe authorization to offer ten genetic health risk <img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />reports including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, and a condition associated with harmful blood clots.
For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid in order to meet FDA requirements. The decision this week provides a clear pathway for submitting additional <a href="https://www.23andme.com/dna-health-ancestry/">genetic health risk reports</a> for the FDA’s consideration.
“The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”

<div style="float: right; text-align: justified; width: 350px; background-color: #eee; padding: 15px; margin-left: 10px;">Authorized Genetic Health Risk Reports:
• <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency">Alpha-1 Antitrypsin Deficiency (AATD)</a> 
AATD deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) enzyme.
• <a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac Disease</a> 
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten.
• Early-Onset Primary Dystonia (DYT1/TOR1A-Related) 
Early-onset primary dystonia is a rare genetic condition characterized by involuntary muscle contractions and other uncontrolled movements. 
• Factor XI Deficiency 
Factor XI deficiency, also known as hemophilia type C, is a bleeding disorder caused by abnormally low levels of a protein called factor XI. When factor XI levels are too low, blood does not form clots properly to stop bleeding.
• <a href="https://www.23andme.com/topics/health-predispositions/g6pd-deficiency">G6PD Deficiency</a> 
G6PD deficiency is a common genetic condition characterized by episodes of anemia. People with this condition often have no symptoms unless triggered by certain factors. This condition is particularly common in people of African origin. 
•<a href="https://www.23andme.com/topics/carrier/gaucher-disease-type-1"> Gaucher Disease</a> 
Gaucher disease is a rare genetic disorder than can affect many organs. The most common form of this condition is Gaucher disease type 1, which often leads to an enlarged liver and spleen a well as bone abnormalities. A person must have two variants in the GBA gene in order to have Gaucher disease.
• <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hereditary Hemochromatosis</a> 
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease.
• Hereditary Thrombophilia 
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs.
• <a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">Late-Onset Alzheimer’s Disease</a> 
Alzheimer’s disease is characterized by memory loss, cognitive decline and personality changes. This report identifies the status of a variant in the APOE gene associated with developing late-onset Alzheimer’s disease.
• <a href="https://www.23andme.com/topics/health-predispositions/parkinsons-disease/">Parkinson’s Disease</a> 
Parkinson’s disease is characterized by problems with movement, tremor and muscle stiffness. This report includes two genetic variants associated with a risk factor for Parkinson’s disease.
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The decision on these reports came through the FDA’s de novo classification process. This is a regulatory pathway for first-of-its-kind medical devices that the FDA considers low to moderate risk, but have special controls to ensure safety, effectiveness and accuracy. 
For this authorization, 23andMe conducted extensive validation studies for accuracy and user comprehension that met FDA standards.
23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription. These reports provide individuals with information about genetic variants that could increase their personal risk for certain diseases. 
The company will release its first set of new genetic health risk reports including late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, and a new carrier status report for Gaucher’s disease in April, with additional reports to follow. New 23andMe Health + Ancestry customers in the U.S. will have access to these reports. Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.
In addition to the authorization, the FDA indicated it will create something called a “Class II Exemption for substantially equivalent reports.” This opens a pathway for 23andMe to release additional genetic health risk reports that meet this “substantially equivalent” designation.
Prior to this most recent authorization, the FDA authorized  23andMe in February of 2015 to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway. This in turn enabled the company to bring back more than 35 carrier status reports which identify inherited recessive variants. 
Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway. In its decision this week, the FDA specifically authorized 23andMe to market genetic health risk reports through the de novo classification pathway including: alpha-1 antitrypsin deficiency (AATD), celiac disease, G6PD deficiency, hereditary thrombophilia which is associated with blood clotting, early-onset primary dystonia, hereditary hemochromatosis, which is associated with iron overload in the blood, among other reports. 
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Answers to some of your questions:
<ul>
<li>
Does this mean 23andMe will bring back all the health reports they previously offered to customers? 
We will continue to work with the FDA to offer additional genetic health risk reports to our customers — we can’t speculate on specific new reports or the timing of those reports.</li>
<li>What is a &#8216;genetic health risk&#8217; report? 
A genetic health risk report offers customers the opportunity to see whether they have genetic variants that affect their chances of developing certain health conditions. Some variants can add to a person’s risk, some can lower their risk and others have no effect. Not everyone with a risk variant will develop the health condition and not having a genetic variant does not eliminate the risk of the health condition.</li>
<li>
What does it mean to be granted a de novo authorization? 
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate pathway to classify novel devices of low to moderate risk. The de novo process is used by the FDA to grant marketing authorization for devices that are new and unlike any other on the market. In addition de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.</li>
<li>
When will you be getting clearance for the other health reports? 
We do not know, but we will continue to work in close collaboration with the FDA, on additional submissions for other genetic health risk reports.</li>
<li>Is this the first time that the FDA has made this type of authorization for a genetic health report? 
In February of 2015 we obtained the first ever FDA authorization for direct-to-consumer genetic testing covering our Autosomal Recessive Carrier Reports which inform people of genetic risks they may pass onto to their children.  This new FDA authorization is the first for any direct-to-consumer test which informs individuals about their own genetic health risks..   </li>
<li>
Will this speed up the process for authorization of other reports? 
23andMe has now established a regulatory pathway with FDA and designed and validated its products to meet those standards.</li>
</ul>

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