
<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="512" height="266" src="http://35.88.189.111/wp-content/uploads/2023/01/Preeclampsia-main-image.png" alt="" class="wp-image-31056" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Preeclampsia-main-image.png 512w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Preeclampsia-main-image-300x156.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<p>This week, we released a new report powered by 23andMe research on preeclampsia for 23andMe+ members.</p>



<p>Preeclampsia is a pregnancy complication that causes persistent high blood pressure and, in some cases, injury to organs like the liver and kidney.</p>



<p>It’s diagnosed based on a combination of high blood pressure, other symptoms, and abnormal lab tests, such as elevated protein levels in the urine.</p>



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



<p>Preeclampsia affects about 4% of pregnancies in the United States and up to<a href="https://my.clevelandclinic.org/health/diseases/17952-preeclampsia"> 8% of pregnancies</a> worldwide.</p>



<p>Onset and severity can vary greatly. Typically, it develops in the second half of pregnancy and resolves after delivery, although some cases may develop postpartum.</p>



<h2 class="wp-block-heading" id="h-signs-and-symptoms"><strong>Signs and symptoms</strong></h2>



<p>Preeclampsia does not always cause symptoms. If symptoms are present, they may be difficult to distinguish from normal pregnancy experiences like fatigue and swelling.</p>



<p>Signs of the condition include:</p>



<ul class="wp-block-list">
<li>Severe headache</li>



<li>Changes in vision</li>



<li>Abdominal pain</li>



<li>Agitation or confusion</li>



<li>Shortness of breath</li>
</ul>



<p>Factors that impact the likelihood of developing preeclampsia include genetics, personal or family history of the condition, having other health conditions like high blood pressure, diabetes, or chronic kidney disease, first pregnancy, pregnancy from in vitro fertilization, or pregnancy with multiple babies.</p>



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="305" height="426" src="http://35.88.189.111/wp-content/uploads/2023/01/preeclampsia-symptoms.png" alt="" class="wp-image-31057" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/preeclampsia-symptoms.png 305w, https://blogcms.23andme.com/wp-content/uploads/2023/01/preeclampsia-symptoms-215x300.png 215w" sizes="auto, (max-width: 305px) 100vw, 305px" /></figure>



<p>Being over the age of 35 and being of African or African American descent can also increase the chance of developing the condition.</p>



<h2 class="wp-block-heading" id="h-a-new-report"><strong>A new report</strong></h2>



<p>Our new report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of developing preeclampsia.</p>



<p>This estimate uses a statistical model that includes 14,462 genetic markers and information on an individual’s ethnicity and birth sex. This white paper explains the science and methodology behind our new report.</p>



<h2 class="wp-block-heading" id="h-long-term-health-impacts"><strong>Long-term health impacts</strong></h2>



<p>Having preeclampsia puts you at a higher risk of developing it in the future during subsequent pregnancies.&nbsp;</p>



<p>The condition is also associated with a long-term increased risk of developing high blood pressure, heart disease, and kidney disease for the parent.</p>



<h2 class="wp-block-heading" id="h-treatment"><strong>Treatment</strong></h2>



<p>Preeclampsia requires monitoring through pregnancy, delivery, and postpartum period to minimize health impacts for both the parent and child.</p>



<p>Depending on the severity and timing of the condition, the most effective treatment is often consideration of early delivery via induction or cesarean section.</p>



<h2 class="wp-block-heading" id="h-prevention"><strong>Prevention</strong></h2>



<p>While there is no proven way to prevent preeclampsia, healthy lifestyle habits can help manage blood pressure.</p>



<ul class="wp-block-list">
<li>Get active. Establish a regular exercise routine before pregnancy and talk to your doctor about how to stay active during pregnancy</li>



<li>Maintain a healthy weight before pregnancy, and if you are pregnant, talk to your doctor about healthy weight gain during pregnancy</li>



<li>Eat a low-sodium, heart-healthy diet</li>



<li>Limit caffeine and alcohol consumption</li>



<li>Try to get enough sleep</li>



<li>Avoid smoking</li>
</ul>



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



<p>23andMe’s new preeclampsia report (powered by 23andMe Research) is available to all annual members of the 23andMe+ Membership. To view your report, go<a href="https://you.23andme.com/reports/prs.preeclampsia/"> here</a>.&nbsp;&nbsp;</p>



<p>Want to join our 23andMe+ Membership?</p>



<p>Find out more <a href="https://www.23andme.com/membership/">here</a>.</p>


23andMe Blog

23andMe Blog Team

New 23andMe+ Report on Preeclampsia


<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="693" src="http://35.88.189.111/wp-content/uploads/2023/01/Group-125283-1-1024x693.png" alt="" class="wp-image-31016" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Group-125283-1-1024x693.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Group-125283-1-300x203.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Group-125283-1-768x520.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Group-125283-1-880x596.png 880w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Group-125283-1-1180x799.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption"><em>Corie Allessie, Erick Rodriguez, and Kim Gugliotta</em></figcaption></figure>



<p>On January 1, many of us resolve to change our habits. We vow to move more, sit less, eat better, lose weight, spend wisely, call our mothers, or start a new hobby.&nbsp;</p>



<p>Setting New Year’s resolutions can be a valuable exercise:<a href="https://onlinelibrary.wiley.com/doi/10.1002/jclp.1151"> research</a> shows that the act of making them increases the likelihood of achieving change.</p>



<p>Whatever your goals are for the new year, here are three stories of 23andMe customers who made positive changes in their lives to inspire and motivate.</p>



<h4 class="wp-block-heading" id="h-a-family-gets-healthy-with-some-help-from-mom"><a href="https://blog.23andme.com/articles/a-family-gets-healthy-with-some-help-from-mom" target="_blank" rel="noreferrer noopener">A Family Gets Healthy, with Some Help from Mom</a></h4>



<p><a href="https://blog.23andme.com/articles/a-family-gets-healthy-with-some-help-from-mom" target="_blank" rel="noreferrer noopener">Corie Allessie</a>, a retired dental assistant and former Navy jet mechanic, has a few essential rules for healthy living.Never, ever eat in front of the television. Get up and get moving (winter is <em>not </em>an excuse). Prepare healthy food – especially vegetables – ahead of time. Minimize eating out. Walk whenever you can (her preferred walking partner is her 170-pound Saint Bernard, Pete). And keep yourself accountable by writing in a journal or sharing your goals with a friend or family member.</p>



<h4 class="wp-block-heading" id="h-from-meat-and-potatoes-to-chicken-and-fish"><a href="https://blog.23andme.com/articles/healthier-every-day" target="_blank" rel="noreferrer noopener">From Meat and Potatoes to Chicken and Fish</a></h4>



<p><a href="https://blog.23andme.com/articles/healthier-every-day" target="_blank" rel="noreferrer noopener">Erick Rodriguez</a>, a professional Jiu-Jitsu athlete in the Army reserves, grew up in the Midwest and never thought much about his diet. But the self-proclaimed “meat and potatoes guy” overhauled his lifestyle after learning he was at an increased likelihood of developing type 2 diabetes.</p>



<h4 class="wp-block-heading" id="h-making-the-change"><a href="https://blog.23andme.com/articles/23andme-heart-health" target="_blank" rel="noreferrer noopener">Making the Change</a></h4>



<p><a href="https://blog.23andme.com/articles/23andme-heart-health" target="_blank" rel="noreferrer noopener">Kim Gugliotta</a> fills her plate with healthy foods like legumes, vegetables, chicken, fish, and tofu. She walks for at least 30 minutes a day. And she’s a regular on the pickleball courts of Ft. Lauderdale, Fl. </p>



<p>But Kim wasn’t always so health conscious. Just a few years ago, she would have opted for “steak and cheeseburgers” and would have been tempted to skip her daily walk.</p>


New Year, New You: Three Stories of Change


<p>Family members share DNA and have other things in common, like where they live, what they eat, or how active they are. All these factors can play a role in determining health, making knowing your family health history important. It&#8217;s important to acknowledge that depending on family circumstances, not everyone has access to their family health history. Still, there is a lot of value in understanding how it can benefit you. </p>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="683" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-974762120-1024x683.jpg" alt="" class="wp-image-30182" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-974762120-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-974762120-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-974762120-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-974762120-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-974762120-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<p>So, what do we mean when we refer to your family health history? This is an actual record of current and past medical conditions for you, your biological family, and your healthcare provider to use to manage your health. </p>



<h2 class="wp-block-heading" id="h-why-is-a-family-health-history-important"><strong>Why is a family health history important?</strong></h2>



<p>This one is easy!&nbsp;</p>



<p>Health conditions can run in families. Knowing your family health history can help a doctor, clinician, or other healthcare professional understand your risk of developing certain conditions.&nbsp;</p>



<p>Family health history helps them decide how often you need checkups and other preventative screenings. Some people, like 23andMe customers <a href="https://blog.23andme.com/23andme-customer-stories/health-inspiration/"><strong>Mary</strong></a> and <a href="https://blog.23andme.com/health-traits/healthier-every-day/"><strong>Tracy</strong></a>, have been inspired to make positive lifestyle changes after learning more about their family history.</p>



<h2 class="wp-block-heading"><strong>What type of medical information matters?</strong></h2>



<p>Gathering family health history is central to a genetic counseling session. A genetic counselor might ask about relatives in four generations of your family. Starting with you, they might ask about your parents, grandparents, children, siblings, half-siblings, aunts, uncles, and first cousins. The names of any medical conditions and the general age of diagnosis are collected. </p>



<p>If you are gathering this information and you or someone in the family does not know the official medical term or the exact age when conditions were diagnosed, use your best guess. Family health history is kinetic, and you can expect to update it over time. </p>



<h2 class="wp-block-heading"><strong>How do you talk to relatives about medical history?</strong></h2>



<p>Medical history can be a sensitive topic. Talking about family health history might be more challenging for some people and some families. Read <a href="https://blog.23andme.com/articles/four-tips-for-talking-to-relatives-about-medical-history">these tips</a> on how to approach family health questions in a careful and considerate way.</p>



<h2 class="wp-block-heading"><strong>What about adoptees and donor-conceived individuals?</strong></h2>



<p>If you’re adopted or donor-conceived, your family health history might be limited or take more time to collect. This is where other information, like that from 23andMe, can help<a href="https://blog.23andme.com/ancestry-reports/dna-testing-for-adoptees/"> <strong>fill in gaps for adoptees</strong></a> and others. Access to a more complete and accurate family health history is important to many people. In fact, it can be the main reason some, including adoptees and those who are donor-conceived, decide to start searching for DNA relatives.&nbsp;</p>



<h2 class="wp-block-heading" id="h-what-do-you-do-with-your-family-health-history-once-you-have-it"><strong>What do you do with your family health history once you have it?</strong></h2>



<p>A  family health history gathers information about genetics, lifestyle, and environment in one place. Learning more about the medical history of your close relatives can give you insights into what conditions could be common in your family and can help you make healthier choices. Just remember to talk to a healthcare professional before making any changes. Learn more about <strong>genetic counseling</strong> and how <a href="https://blog.23andme.com/articles/genetic-counselors-and-their-roles-at-23andme/"><strong>genetic counselors at 23andMe</strong></a> work at a broader level to help. </p>



<h6 class="wp-block-heading"><strong>How can using 23andMe help?</strong></h6>



<p>23andMe’s Family Health History Tree for Health + Ancestry Service customers also record and preserve that history. (The Family Health History Tree is only available for Health + Ancestry Service customers in the United States and Canada.) Like any family tree, this one visually represents how you connect to different relatives. But this tree allows you to include medical conditions, offering you a visual record of current and past health issues for you and your close relatives. 23andMe’s Family Health History Tree gives you a place to record information you can share with your healthcare provider to help you manage your health.</p>



<p>Not yet a customer? Find out more<a href="https://www.23andme.com/dna-health-ancestry?fhht=v1"> <strong>here</strong></a>.</p>



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



<div class="wp-block-group has-tertiary-background-color has-background has-medium-font-size is-layout-flow wp-container-core-group-is-layout-19e44a71 wp-block-group-is-layout-flow" style="border-width:10px;border-radius:15px;padding-top:var(--wp--preset--spacing--20);padding-right:var(--wp--preset--spacing--20);padding-bottom:var(--wp--preset--spacing--20);padding-left:var(--wp--preset--spacing--20)">
<h6 class="wp-block-heading"><strong>Need some help jogging your memory or a list of conditions to take to family?</strong></h6>



<p>Here are common examples of several types of health conditions:</p>



<div class="wp-block-group is-layout-constrained wp-container-core-group-is-layout-e88e289f wp-block-group-is-layout-constrained">
<p><strong>•Chronic health conditions</strong> — Examples: type 1 and type 2 diabetes, asthma, allergies, cancer, heart disease, stroke, high blood pressure, high cholesterol, obesity, lung disease, kidney disease, Crohn&#8217;s disease, Alzheimer&#8217;s disease.</p>



<p><strong>•Mental health conditions —</strong> Examples: depression, anxiety, alcohol and substance use disorders, schizophrenia, bipolar disorder, post-traumatic stress disorder, obsessive-compulsive disorder, and eating disorders.</p>



<p><strong>•Inherited or genetic conditions</strong> — Examples: sickle cell disease, cystic fibrosis, hemochromatosis, hemophilia, muscular dystrophy, alpha-1-antitrypsin deficiency, neurofibromatosis, Huntington&#8217;s disease.</p>



<p><strong>•Birth defects</strong> — Examples: cleft lip, cleft palate, spina bifida, congenital heart defects. Try asking yourself a few key questions: Does anyone in your family have any unique features? Or have anything you have ever wondered about, like having a small or short stature, or stretchy skin? Were there any early childhood deaths in your family?</p>



<p><strong>•Newborn and childhood conditions</strong>&nbsp;— Examples: epilepsy/seizures, childhood cancers, sudden infant death syndrome (SIDS), failure to thrive.</p>



<p><strong>•Developmental disorders, intellectual disabilities</strong> — Examples: autism spectrum disorder, developmental delays, attention-deficit hyperactivity disorder, Down syndrome, fragile X syndrome, cerebral palsy. Try asking yourself: Has anyone in your family needed special classes in school or speech therapy?</p>



<p><strong>•Vision and hearing loss, physical disabilities</strong> — Examples: blindness/vision loss, deafness/hearing loss at a young age.</p>



<p><strong>•Infectious diseases</strong> — Examples: malaria, hepatitis, tuberculosis, Lyme disease, infectious mononucleosis (mono). Knowing whether a family member has been exposed to an infectious disease can be valuable information to include in your family health history. Healthcare professionals can use this information when trying to understand the role genetics may, or may not, be playing in a family member&#8217;s health condition.</p>



<p><strong>•Reproductive and pregnancy complications</strong> — Examples: male or female infertility, miscarriage, stillbirth, polycystic ovary syndrome (PCOS), endometriosis, sperm disorders like abnormal sperm shape or mobility, testicular disorders, varicoceles, enlarged prostate.</p>
</div>
</div>


Making Family Health History Work for You


<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2022/12/Overview-opengraph-1024x538.png" alt="DNA helix" class="wp-image-31001" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<p>The past year in genetics has held no shortage of surprises. Fossilized bone fragments helped to rewrite parts of the Neanderthal story, including how some bands migrated and lived. A team of researchers in Spain learned that doppelgangers have more in common than meets the eye. The phrase “super-dodger” officially entered the COVID-19 lexicon. A new analysis confirmed what anyone who’s ever hit a dance floor already knows–the ability to move in time to a beat is partly genetic.</p>



<p>From significant discoveries that moved the field forward to work that improved upon existing findings, here are some of the year’s milestones.</p>



<h6 class="wp-block-heading" id="h-a-neanderthal-family-portrait"><strong>A Neanderthal family portrait</strong></h6>



<p>Deep inside a cave in southern Siberia, researchers<a href="https://www.nature.com/articles/d41586-022-03339-7"> discovered</a> the fossilized bone fragments of the first-known Neanderthal family.</p>



<p>DNA analysis of these fragments offered rare insights into Neanderthals’ lives – depicting their social structures, migratory patterns, and relationships.</p>



<h6 class="wp-block-heading" id="h-are-you-a-superdodger"><strong>Are you a superdodger?</strong></h6>



<p>In 2022, a new term entered the COVID-19 lexicon: superdodger. A superdodger is someone who appears to have avoided COVID infection despite multiple exposures to new variants and waves.</p>



<p>Scientists were so puzzled by these virus evaders they began to look for<a href="https://www.npr.org/sections/goatsandsoda/2022/09/07/1121599445/so-you-havent-caught-covid-yet-does-that-mean-youre-a-superdodger"> genetic clues</a>. Research out of UCSF revealed a genetic variant in a gene called HLA that clears the virus rapidly. “The immune response gets just kind of fired up much more quickly,”<a href="https://www.npr.org/2022/09/28/1125525805/what-science-has-to-say-about-so-called-covid-superdodgers"> explained</a> Jill Hollenbach, an immunogeneticist at UCSF. “So that you basically nuke the infection before you even start to have symptoms.”</p>



<h6 class="wp-block-heading" id="h-more-than-a-look-alike"><strong>More than a look-alike</strong></h6>



<p>Your doppelganger may share more than just your physical characteristics–they may also share similar DNA.</p>



<p>Researchers in Spain compared and analyzed the DNA of doppelgangers who had participated in a photography series on look-alikes by Canadian artist François Brunelle. They<a href="https://www.cell.com/cell-reports/fulltext/S2211-1247(22)01075-0"> found</a> that people with very similar faces also shared many of the same genetic variants.</p>



<h6 class="wp-block-heading" id="h-you-ve-got-the-music-in-you"><strong>You’ve got the music in you</strong></h6>



<p>When your favorite song comes on the radio, can you tap, clap, and dance in time to its beat?</p>



<p>Researchers at Vanderbilt University and 23andMe<a href="https://blog.23andme.com/articles/we-got-the-beat"> found</a> more than 60 genetic links to the ability to move in time to musical rhythm – an important first step in understanding the genetic architecture of musicality.</p>



<h6 class="wp-block-heading" id="h-polygenic-risk-scores-go-mainstream"><strong>Polygenic risk scores go mainstream</strong></h6>



<p>Polygenic risk scores, DNA-based tools that enhance our ability to predict the risk of common diseases, made headlines this year. Researchers worldwide developed new scores for common conditions like t<a href="https://www.frontiersin.org/articles/10.3389/fgene.2022.871260/full?&amp;utm_source=Email_to_authors_&amp;utm_medium=Email&amp;utm_content=T1_11.5e1_author&amp;utm_campaign=Email_publication&amp;field=&amp;journalName=Frontiers_in_Genetics&amp;id=871260">ype 2 diabetes</a>, <a href="https://consumer.healthday.com/polygenic-risk-score-predicts-risk-of-hip-knee-replacement-2657254383.html">knee and hip osteoarthritis</a>, <a href="https://www.ahajournals.org/doi/epdf/10.1161/CIR.0000000000001077">cardiovascular disease</a>, <a href="https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2798369">glaucoma</a>, and <a href="https://www.nature.com/articles/s41588-022-01074-3">more</a>. Here at 23andMe, researchers developed scores that formed the basis for 12 new <a href="https://www.23andme.com/dna-reports-list/">reports</a>.&nbsp;</p>



<p>All of this work suggests that we’re closer than ever to realizing the promise of polygenic risk scores. As risk prediction continues to improve, these tools can inform treatment decisions, guide lifestyle modifications, and influence disease screening.</p>



<h6 class="wp-block-heading" id="h-francis-collins-next-act"><strong>Francis Collins’ next act</strong></h6>



<p>After more than 12 years as the director of the NIH, physician-geneticist Dr. Francis Collins <a href="https://www.nih.gov/farewell-dr-francis-collins">announced</a> he would step down to return to his lab at the National Human Genome Research Institute and join President Biden’s administration as an <a href="https://nihrecord.nih.gov/2022/03/18/collins-named-acting-science-advisor-president-biden#:~:text=16%2C%20the%20White%20House%20announced,science%20advisor%20to%20President%20Biden.">acting science adviser</a>.&nbsp;</p>



<p>Dr. Collins brought his diplomatic skills and expertise to the job of NIH director. Highlights of his tenure include co-launching the Cancer Moonshot Initiative, which aims to speed progress in cancer research and prevention, navigating the COVID-19 pandemic, and supporting research for mRNA vaccines.</p>



<h6 class="wp-block-heading" id="h-a-new-era-of-drug-discovery"><strong>A new era of drug discovery</strong></h6>



<p>A 2022 <a href="https://www.nature.com/articles/d41573-022-00120-3">study</a> found that 33 of the 50 drugs recently approved by the Food and Drug Administration were supported with genomic data – making it clear that genetic insights will play an increasingly important role in developing new therapies for people who need them most.&nbsp;</p>



<p>23andMe has long <a href="https://blog.23andme.com/articles/drug-discovery-explained">envisioned</a> a model of drug discovery fueled by human genetics. This year, we moved closer to making that a reality. Our therapeutics team recently initiated a <a href="https://blog.23andme.com/articles/more-on-23andmes-first-clinical-trial-of-a-potential-new-cancer-treatment">Phase 1 clinical trial </a>for a potential new cancer treatment, an immunotherapy antibody called 23ME-00610.</p>



<h6 class="wp-block-heading" id="h-tall-order"><strong>Tall order</strong></h6>



<p>The <a href="https://blog.23andme.com/articles/height-gwas">largest genome-wide association study</a> ever done found nearly all the common genetic variants that explain the heritability of height among people of European ancestry, and, in the process, may have set the framework for future genetic research into other traits and diseases.</p>



<p>Using data from about 5.4 million individuals, almost half of whom were 23andMe customers who consented to participate in research, the GIANT study identified 12,111 variants that help explain 10 to 40 percent of all variation in height, depending on a person’s ancestry. They cluster around parts of the genome involved in skeletal growth.</p>


The Year in Genetics


<figure class="wp-block-image alignwide size-large"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/IMG_6510-scaled-e1671646188429-1024x911.jpeg" alt="Brandon Moore photo" class="wp-image-30991"/></figure>



<p>Out with the gluten, in with the gluten-free substitutes.</p>



<p>That’s the new motto for Brandon Moore, who was recently diagnosed with celiac disease.</p>



<h6 class="wp-block-heading" id="h-unexplained-symptoms"><strong>Unexplained symptoms</strong></h6>



<p>Brandon never knew that all the pizza, pasta, and bread that sustained him were also making him ill.</p>



<p>He’d experienced chronic stomach problems for as long as he could remember, but no doctor or specialist could explain them. “I have done multiple tests looking for various issues like diverticulitis and stomach ulcers,” he said. “My doctors never found anything.”</p>



<p>Then he received a 23andMe Health + Ancestry kit as a gift from his step-grandmother. His <a href="https://blog.23andme.com/articles/new-23andme-report-celiac-disease">23andMe Celiac Disease Genetic Health Risk report*</a> indicated that he had a slightly increased risk of developing celiac disease.&nbsp;</p>



<p>He mentioned his results to his doctor during a routine physical, who ordered a follow-up test. The results confirmed he had the condition.</p>



<h6 class="wp-block-heading" id="h-a-new-lifestyle"><strong>A new lifestyle</strong></h6>



<p><a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac disease</a> is an autoimmune condition in which the consumption of gluten protein – found in wheat and other grains like barley and rye –&nbsp; can result in damage to the small intestine and cause digestive and non-digestive symptoms.&nbsp;&nbsp;</p>



<p>The only known treatment is a gluten-free diet. So, Brandon began reading labels and avoiding everything containing gluten.&nbsp;</p>



<p>Within weeks of going gluten-free, he felt better. His chronic stomach problems abated. And he even began to lose weight. “I feel physically and mentally healthier than I have ever felt in my life,” he said. “I lost 50 pounds; I don’t even get colds anymore!”</p>



<p>Brandon has adjusted to his new gluten-free lifestyle. “I don’t take a lot of risks. It’s just not worth it,” he said. “Even a minuscule amount of gluten will upset my stomach.”</p>



<p>He credits his success to his wife, who helps him research and prepare food: “I couldn’t do it without her. She is my rock.”</p>



<p>He also enjoys introducing his friends to the wide array of gluten-free products that are now available. “We’ll have friends over, and we’ll prepare them hamburgers on gluten-free buns, and honestly, they don’t even know the difference. Everything’s pretty good now!”</p>



<hr class="wp-block-separator has-text-color has-foreground-color has-alpha-channel-opacity has-foreground-background-color has-background"/>



<p class="has-small-font-size"><em>*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. The Celiac Disease Genetic Health Risk report (i) is indicated for reporting of the rs2187668 variant in the HLA-DQA1 gene, which tags the HLA-DQ2.5 haplotype, and the rs7454108 variant near the HLA-DQB1 gene, which tags the HLA-DQ8 haplotype and (ii) describes if a person has variants associated with a higher risk of developing celiac disease. The variants included in this report are common in many ethnicities, but are best studied in people of European descent.</em></p>


The Gift of Health, via a Gluten-Free Diet


<p>Like all good Christmas stories, this one begins with a gift.</p>



<p>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.</p>



<p>It was the perfect present.&nbsp;</p>



<p>“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!”</p>



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



<p>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.</p>



<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://blogcms.23andme.com/wp-content/uploads/2022/12/image0-768x1024.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-660x880.jpeg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-885x1180.jpeg 885w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0.jpeg 1536w" sizes="(max-width: 768px) 100vw, 768px" /></figure>



<p>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.</p>



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



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



<p>Then a life-changing alert appeared on Kathy’s phone.</p>



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



<p>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.</p>



<p>“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.</p>



<p>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.”</p>



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



<p>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>.</p>



<p>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.</p>



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



<p>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.</p>



<p>“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;</p>



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



<p>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;</p>



<p>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!”</p>



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



<p>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;</p>



<p>“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?”</p>



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



<p class="has-small-font-size"><em>*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.</em></p>


A Sister’s Gift


<p>A genome-wide association study of almost 3.4 million people with diverse ancestries has identified 3,823 genetic variants linked to alcohol and tobacco use.</p>



<p>Published in<a href="https://www.nature.com/articles/s41586-022-05477-4"> <em>Nature</em></a>, the research was led by a team from the University of Minnesota, Minneapolis, and Pennsylvania State College of Medicine and collaborators from industry and other academic institutions.</p>



<p>The study incorporated the genetic data of almost 3.4 million people with African, American, East Asian, and European Ancestry. Participants were from 60 different cohorts across the globe, including consented research participants from 23andMe.</p>



<p>This is the first study of its kind to include such a diverse population. It updates <a href="https://www.nature.com/articles/s41588-018-0307-5">work </a>done by the same team in 2019 that primarily relied on data from people of European Ancestry.&nbsp;</p>



<h6 class="wp-block-heading" id="h-genetic-architecture-of-substance-use"><strong>Genetic architecture of substance use</strong></h6>



<p>Smoking and drinking are leading causes of mortality worldwide and are risk factors for many chronic conditions and psychiatric disorders. Though both behaviors can be influenced by environment and culture, evidence suggests genetics plays a role, too.</p>



<p>The researchers identified 3,823 genetic variants from more than 2,000 genomic regions linked with smoking or drinking traits. More than 2,400 were associated with the likelihood of ever smoking regularly, 243 with the number of cigarettes smoked per day, and 849 with the number of alcoholic drinks consumed per week.</p>



<p>When they compared these genetic variants across the different ancestries, they found striking similarities, indicating that “the genetic architecture underlying substance use is not markedly different across ancestries.”&nbsp;</p>



<p>However, they also noted that polygenic risk scores (DNA-based tools that enhance the ability to predict the risk of certain diseases) developed from people of European Ancestry couldn’t accurately predict alcohol and tobacco use in people of other ancestries.</p>



<h6 class="wp-block-heading" id="h-diversity-is-key"><strong>Diversity is key</strong></h6>



<p>Beyond furthering the understanding of substance use and related behaviors, this work also shows how diverse population samples can increase the scope and power of genetic research.</p>



<p>Working with an expanded database allowed the researchers to pinpoint more genetic variants that are strongly linked to alcohol and tobacco use. And by including population samples from a wide variety of ancestry groups, these gene variants were able to be found more quickly.</p>



<p>“Our results highlight that inclusion of individuals of diverse genetic ancestries allows for a better understanding of the genetic architecture of substance use by increasing power to detect variants associated with these behaviors and by improving the generalizability of our findings,” said <a href="https://experts.umn.edu/en/persons/gretchen-r-saunders">Gretchen Saunders</a>, a psychologist at the University of Minnesota, Minneapolis, and a co-author of the paper.&nbsp;</p>



<p>“As we continue to expand [upon this research], we hope to further include individuals who better represent overall global diversity which would allow for the creation of more equitable genetic risk scores, for example.”</p>



<p>You can read the full paper <a href="https://www.nature.com/articles/s41586-022-05477-4">here</a>.</p>


Genetic Associations with Smoking and Drinking


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



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



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



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



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



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



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



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



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



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



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



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



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



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



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


23andMe’s First Clinical Trial of New Cancer Treatment


<p>This month, researchers from <a href="https://www.23andme.com/">23andMe</a>, the <a href="https://www.nih.gov/">National Institutes of Health</a> (NIH), and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a> presented preliminary data from what is now the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done.</p>



<h6 class="wp-block-heading" id="h-link-to-pulmonary-emboli"><strong>Link to pulmonary emboli</strong></h6>



<p>The study included data from more than 3.7 million customers who consented to participate in research, including 18,000 with sickle cell trait.&nbsp;</p>



<p>The study found that having sickle cell trait — being a carrier for sickle cell anemia or having one copy of the HbS variant in the HBB gene — is associated with an increased risk for blood clots in the lungs, known as pulmonary emboli.</p>



<p>Someone who has sickle cell trait will not develop sickle cell anemia. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait.</p>



<p>While being a carrier does not put you at risk for sickle cell anemia and most individuals will not have any associated health complications, this study and others have shown that sickle cell trait is a risk factor for pulmonary emboli. This study revealed for the first time that this risk exists regardless of ancestry, which has implications for clinical guidelines for individuals who have sickle cell trait.</p>



<p>“We were able to validate the link for venous thromboembolism that smaller epidemiologic studies have shown in the past and identify that this link was predominantly for pulmonary emboli and not for deep vein thrombosis,” said <a href="https://www.hopkinsmedicine.org/profiles/details/rakhi-naik">Rakhi P. Naik</a>, MD, MHS, Clinical Director for the Division of Hematology at Johns Hopkins and a lead researcher on the study.&nbsp;</p>



<p>“These findings are particularly important because they suggest a unique mechanism of thrombosis in individuals with sickle cell trait,” Naik continued. “Clinicians should be aware of the increased risk of pulmonary embolism in sickle cell trait, especially in high-risk situations such as surgery.”</p>



<h6 class="wp-block-heading" id="h-a-significant-study"><strong>A significant study</strong></h6>



<p>An abstract on the findings and more <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">detail on the study</a> was presented at <a href="https://www.hematology.org/">the American Society of Hematology</a>’s annual meeting.&nbsp;</p>



<p>“While the initial findings are interesting, the more significant aspect of this study is the size and diversity of the research cohort,” said <a href="https://www.genome.gov/staff/Vence-L-Bonham-Jr-JD">Vence Bonham</a>, JD, acting Deputy Director of the<a href="https://www.genome.gov/"> National Human Genome Research Institute</a> (NHGRI) of NIH, associate investigator in the NHGRI Intramural Research Program, and leader of the NHGRI Health Disparities Unit.&nbsp;</p>



<p>“This preliminary data represents just a first glimpse at the work from this collaboration,” said Bonham, adding that the study is significant because it is not just being conducted among individuals from one ethnic or ancestral background.</p>



<p>Study participants included nearly 200,000 individuals of African ancestry and ~550,000 people of Latine descent, in addition to ~3 million participants of European descent. &nbsp;Most previous studies have been performed solely in African ancestry cohorts, so this study is significant for including multiple population groups and for its sheer size.</p>



<p>The study&#8217;s associations are consistent across all studied ancestral groups, reinforcing that sickle cell trait and its associations are relevant for many carriers.&nbsp;</p>



<p>More than 100 million people worldwide have sickle cell trait, including one million to three million Americans. About eight-to-ten percent of African Americans are carriers, but sickle cell trait can also be found in people of any ethnicity. Sickle cell trait is more common in individuals with ancestors from Africa, Latin America, South Asia, the Mediterranean region of Europe, and Middle Eastern countries.</p>



<h6 class="wp-block-heading" id="h-diversity-in-research"><strong>Diversity in research</strong></h6>



<p>For 23andMe, this is not only an opportunity to raise awareness about sickle cell, but also offers the potential to move the needle to increase the diversity of genomic studies.</p>



<p>“This study, the largest to date on sickle cell trait, demonstrates the contribution 23andMe can make to understudied areas of research,” said<a href="https://research.23andme.com/research/#drawer-manage"> Anjali Shastri</a>, PhD, a 23andMe Senior Program Manager for Research. “It underscores the importance of diversity in genomics research, and we believe studies like this should inform clinical care and policy in this space.”&nbsp;</p>



<p><a href="https://www.linkedin.com/in/julie-granka-69156550">Julie Granka</a>, PhD, a 23andMe Principal Scientist and Statistical Geneticist who worked on the study with Statistical Geneticist <a href="https://research.23andme.com/research/#genomics-drawer">Keng-Han Lin</a>, PhD, believes the work shows the value of 23andMe’s research model. “Leveraging crowd-sourced data from our customers who have consented to participate in research has allowed us to quickly replicate prior findings, as well as make new discoveries uniquely powered by a large dataset,” said Granka.</p>



<p>This work would not have been possible without 23andMe customers with sickle cell trait who consented to participate in research. <a href="https://blog.23andme.com/articles/melinda-king">Melinda King</a>, Head of Diversity, Equity, and Inclusion at 23andMe, acknowledged their important contribution: “I am so grateful and impressed with our 23andMe customers&#8217; willingness to participate in this research. We know that many of them are from communities that suffered unethical treatment from past medical research projects. Despite that history, they trust us to do this important work and know that it is necessary for the greater good of their communities.”</p>



<h6 class="wp-block-heading" id="h-raising-awareness"><strong>Raising awareness</strong></h6>



<p>Independent of this collaboration, 23andMe has undertaken other projects to raise awareness and improve our understanding of sickle cell.&nbsp;</p>



<p>Most recently we have worked with the <a href="https://www.btsscycle.org/">Breaking the SSickle Cell Cycle Foundation</a> on <a href="https://blog.23andme.com/health-traits/sickle-cell-awareness/">an awareness campaign</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease.</p>



<p>Many people don’t fully understand what it means to have sickle cell trait. Bonham and Naik hope that this study and others will help raise awareness about sickle cell in general.</p>



<p>Access the abstract <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">here</a>.</p>


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