Researchers at the University of Oxford completed the largest study to date looking at the genetic basis for endometriosis.



The study, published in the journal <a href="https://www.nature.com/articles/s41588-023-01323-z" target="_blank" rel="noreferrer noopener">Nature Genetics</a>, found 42 genomic regions associated with endometriosis and revealed a shared genetic basis between endometriosis and pain traits, such as migraine, chronic and back pains. 



<h6 class="wp-block-heading" id="h-pain-sensitivity">Pain Sensitivity</h6>



This could contribute to a heightened sensitivity of the nervous system making endometriosis patients more prone to pain. Women suffering from endometriosis are traditionally given hormone treatments, but these insights might draw attention to treating pain.



It&#8217;s estimated that one in ten women suffer from endometriosis, which is characterized by uterine tissue, called endometrium, developing outside of the uterus. This tissue often accumulates in the stomach, ovaries, fallopian tubes and ligaments around the reproductive organs. Along with the excruciating pain, this can result in scarring and infertility in up to half of the women who have the condition.



<h6 class="wp-block-heading">a Need for Better Diagnosis</h6>



For many women even getting a diagnosis of endometriosis can be a long and grueling process. 



A<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(17)31344-2/fulltext"> survey</a> of women with the condition published in the journal Lancet found that their top priority is finding a better way to diagnose the condition. Also on the list were better treatments for managing the symptoms of the disease, particularly the pain.



<h6 class="wp-block-heading">23andMe Data</h6>



This new study by researchers from Oxford included data from more than two dozen academic and industry research teams across the world, including 23andMe. 



In all, the study included data from about 760,000 women, about 60,000 of whom were diagnosed with endometriosis. Using data from both women with endometriosis and those without it helps researchers discern the biological basis for the condition. It also helps in the study of the onset and progression of the condition. About half of the data used in this study came from 23andMe customers who consented to participate in research. 



Using different datasets along with the details on surgical findings and pain experiences, improve what researchers could do.



“(It) allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,” <a href="https://www.wrh.ox.ac.uk/news/multiple-debilitating-pains-2013-new-global-study-shows-the-experience-of-endometriosis-is-rooted-in-a-person2019s-genetics" target="_blank" rel="noreferrer noopener">said Dr. Nilufer Rahmioglu,</a> Senior Research Scientist at the Wellcome Centre for Human Genetics, University of Oxford, and first author of the study.



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



You can read the full study <a href="https://www.nature.com/articles/s41588-023-01323-z" target="_blank" rel="noreferrer noopener">here</a>.



Or read more coverage on the blog about endometriosis <a href="https://blog.23andme.com/articles/endometriosis">here</a>.

23andMe Blog

23andMe Blog Team

Largest Genetic Study to Date Links Endometriosis with Chronic Pain

Our immune systems fight off bacteria, viruses, and infections in an almost daily battle to keep us healthy, but if you have an autoimmune disease, that natural defense system turns on itself, attacking healthy cells and tissue by mistake.



<figure class="wp-block-image alignright size-full is-resized is-style-default"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/03/pemphigus-V-image.png" alt="" class="wp-image-31265" width="362" height="358" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/pemphigus-V-image.png 530w, https://blogcms.23andme.com/wp-content/uploads/2023/03/pemphigus-V-image-300x297.png 300w" sizes="auto, (max-width: 362px) 100vw, 362px" /></figure>



<h6 class="wp-block-heading" id="h-autoimmune-awareness-month">Autoimmune Awareness Month</h6>



This month is Autoimmune Awareness Month, and 23andMe wants to shine a light on autoimmune diseases generally, which affect an estimated<a href="https://www.niehs.nih.gov/health/topics/conditions/autoimmune/index.cfm#footnote1"> 24 million people</a> in the United States alone. 



There are more than 80 known autoimmune diseases. Some of these are well known, such as<a href="https://www.23andme.com/lupus/"> lupus</a>, <a href="https://blog.23andme.com/articles/snpwatch-two-studies-connect-more-immune-system-genes-to-rheumatoid-arthritis">rheumatoid arthritis</a>, <a href="https://www.23andme.com/ibd/">Crohn&#8217;s disease, and ulcerative colitis,</a> but others are rare and difficult to diagnose. There is a lot we do not know about these conditions and their causes, although genetics appears to play a role.



For those with an autoimmune disorder, particularly one that is rare, it can be jarring to learn that your body is at war with itself.



“It was devastating,” said Doris, a minister, mother, grandmother, and great grandmother in Louisiana who, in 2009, was diagnosed with the rare autoimmune disorder,<a href="https://www.pemphigus.org/pemphigus/" target="_blank" rel="noreferrer noopener"> pemphigus</a>.



<h6 class="wp-block-heading">Doris&#8217;s Story</h6>



<a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/" target="_blank" rel="noreferrer noopener">Pemphigus vulgaris</a> is one of a group of autoimmune conditions that can be life-threatening without treatment. It is characterized by blisters and lesions on the mucous membranes and skin. It is also one of a dozen rare diseases 23andMe is researching as part of its<a href="https://www.23andme.com/rare-disease-research-study/" target="_blank" rel="noreferrer noopener"> Rare Disease Research Study</a>.



For Doris, she thought her diagnosis was a death sentence. But 13 years later, she has a different perspective.



“I did not allow the disability to stop me from enjoying life and moving forward in life,” Doris said.



<h6 class="wp-block-heading">Finding Support</h6>



In the ensuing years, Doris retired from her job with a mortgage company, got her bachelor’s degree, then a master’s, and she will soon receive a doctorate. She plans to become a college professor and is taking classes in nonprofit management. Her diagnosis galvanized her, not just to pursue her dreams but also to better understand the condition and seek support from the<a href="https://www.pemphigus.org/pemphigus/" target="_blank" rel="noreferrer noopener"> International Pemphigus &amp; Pemphigoid Foundation</a> (IPPF).



But that journey wasn’t easy. While Doris’s story is unique, many of the things she has had to navigate will be familiar to others with an autoimmune condition or a rare disease. Often the most difficult step in the process is simply getting a proper diagnosis.



<figure class="wp-block-image alignright size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/03/Doris.jpg" alt="" class="wp-image-31260" width="442" height="278" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/Doris.jpg 621w, https://blogcms.23andme.com/wp-content/uploads/2023/03/Doris-300x189.jpg 300w" sizes="auto, (max-width: 442px) 100vw, 442px" /></figure>



<h6 class="wp-block-heading">After The Diagnosis</h6>



In Doris’s case that came after an unrelated surgery. While she was recovering, painful sores emerged in her mouth. At first this was thought to be related to the insertion of a breathing tube during surgery, but the sores didn’t go away for more than a week.



That’s when the ordeal of trying to figure out what it was began. The sores soon showed up elsewhere on her body, including in her eyes. Over the course of visiting various doctors, she was told she had thrush (a fungus) and HIV, among other things. She couldn’t eat and was losing weight rapidly when about a year after her symptoms first emerged, she was finally seen by an infectious disease doctor.



“I’ve been in practice for over 30+ years and I’ve only seen this twice,” Doris’s doctor said. “This is pemphigus vulgaris.”&nbsp;



<h6 class="wp-block-heading">A New Life Journey</h6>



She had a biopsy done confirming the diagnosis. But, as with many people who have a rare disease or an autoimmune disease, the diagnosis also raised new questions and a hunt for treatment that would work for her.



“It was the beginning of a new life journey,” Doris said.



She was prescribed steroids, as well as different immunosuppressant drugs. Those drugs are meant for preventing a person from rejecting an organ transplant but have been used to treat other autoimmune conditions like rheumatoid arthritis. She was given an anti-inflammatory drug and antibiotic used for treating skin lesions. She was given an intravenous medication meant to boost her antibodies. Doris also received monoclonal antibodies, and other drugs that are typically used to treat cancer.



“The drugs changed my life,” she said.



<h6 class="wp-block-heading">Remaining Positive</h6>



Some of the treatments worked and some didn’t. Doris&#8217;s side effects from the treatments included a heart attack, a stroke, excessive weight gain, mood changes, and glaucoma.



Through it all Doris has remained positive. She’s become a member of the IPPF foundation. She learned more about the condition, treatments, and found a community for support.



“If you are diagnosed with a rare disease, realize that it is not a death sentence but a different road to travel on the road that we call LIFE,” said Doris, who also volunteers doing ministry in the prison system. “Enjoy every moment of your life. Live each day as if it were your last, it just may be. Put your stripes on and always ‘Speak up and Speak out’ to let the world know that you are still here to make a difference.”



Learn more about 23andMe&#8217;s Rare Disease Research Study <a href="https://www.23andme.com/rare-disease-research-study/" target="_blank" rel="noreferrer noopener">here</a>.



Learn more about Pemphigus vulgaris <a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/" target="_blank" rel="noreferrer noopener">here</a>.

Autoimmune Awareness and a Rare Disease

Two new surveys find that most consumers and doctors believe genetic testing could help make healthcare more personalized.



Three-quarters of people surveyed said they’d be more likely to follow their doctor’s advice if their doctor used their genetic profile in tailoring that advice. Sixty-six percent of doctors said using genetic testing could help lead to better outcomes for patients.



“I am excited about a future where genetic information becomes the foundation of personalized health,” said Anne Wojcicki, 23andMe CEO and Co-Founder. “Since starting the company, 23andMe has been focused on helping our customers — and the world — benefit from genetics based prevention and treatment.”



<h6 class="wp-block-heading" id="h-genetic-data-and-your-health-profile">Genetic Data and Your Health Profile</h6>



The data comes from two national surveys on attitudes from primary care physicians and the general population about the role genetic testing might play in healthcare.* From the responses, both consumers and doctors believe genetics is essential. Among doctors, 92 percent said that genetics is integral to a patient’s health profile.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="621" src="http://35.88.189.111/wp-content/uploads/2023/03/92-percent-stat-1024x621.jpg" alt="" class="wp-image-31268" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat-1024x621.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat-300x182.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat-768x466.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat-880x534.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat-1180x716.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/03/92-percent-stat.jpg 1386w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Among the general population, 75 percent said they would be more likely to follow a doctor’s advice if they knew their genetic profile was used to personalize their care.



But few people say they’re getting the kind of care tailored to them. Most people surveyed, 62 percent, said they wanted advice from their doctors tailored to them personally. However, only 36 percent said that’s what they were getting. The survey also found that many people were unsatisfied with their current state of health. More than half saying they don’t feel healthy and 63 percent saying they don’t feel in control of their health.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="645" src="http://35.88.189.111/wp-content/uploads/2023/03/75-percent-stat-1024x645.jpg" alt="" class="wp-image-31267" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat-1024x645.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat-300x189.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat-768x483.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat-880x554.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat-1180x743.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/03/75-percent-stat.jpg 1333w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading">Doctors&#8217; Attitudes</h6>



For doctors, the survey revealed that testing could offer a way to connect with their patients and engage them more with their health. Sixty-two percent of doctors today say that genetic testing can help them provide more personalized care.



The survey of doctors is the third in a series of research surveys gauging doctors’ attitudes about genetic testing conducted by Medscape since 2018. It showed a marked change among physicians. This shift in attitude from doctors toward genetic testing and its potential use in care is starkly different than it has been in the past. Primary care physicians are much more aware of genetic testing and open to using it with patients.&nbsp;



<h6 class="wp-block-heading">More Doctors Have Themselves Tested</h6>



The survey showed a significant shift in the number of cases they had in which genetics was a factor. For example, in 2018, only about three in ten doctors regularly saw patient cases involving genetics. 



In this latest survey, more than half, 51 percent, of primary care physicians surveyed said they encountered one or more clinical cases a week where genetics plays a role. In addition, 34 percent of doctors in the 2022 survey said they had personally taken a direct-to-consumer genetic health test. In 2020 only about 7 percent of doctors said they’d taken a direct-to-consumer genetic health test.&nbsp;&nbsp;



You can find out more about the surveys <a href="https://www.23andme.com/dna-and-personalized-healthcare/?features=sophc_2023:on" target="_blank" rel="noreferrer noopener">here</a>.



*Based on 2022 surveys designed by 23andMe, Medscape, and Material Holdings LLC of approximately 1,000 doctors and approximately 1,500 patients in the U.S. ; Based on 2019 survey designed by 23andMe and M/A/R/C Research of approximately 1,000 23andMe Health + Ancestry customers.

Genetics May Be a Bridge to More Personalized Healthcare

In honor of International Women&#8217;s Day, Barbie®, as it has done since 2018, highlights inspiring female role models to encourage girls to dream big. 



As part of this effort and to inspire our local community, we invited a few girls over to 23andMe’s headquarters inspiring them to pursue their dreams and talk to our CEO and Co-Founder, Anne Wojcicki.



<h6 class="wp-block-heading" id="h-sisterhood">Sisterhood</h6>



Anne and her sisters, Susan, special advisor to Google and Alphabet, and Janet, a professor of pediatrics and epidemiology at UCSF, were among the women who work in the field of science, technology, engineering, and math (STEM) picked by Barbie® to inspire young girls during this year’s International Women’s Day. Also honored are <a href="https://www.katechazarreta.com/about">Kat Echazarret</a>, an electrical engineer and science show host; <a href="https://www.imperial.ac.uk/mechanical-engineering/people/meet-our-alumni/dr-maggie-aderin-pocock/">Dr. Maggie Aderin Pocock</a>, a space scientist, and educator; and <a href="https://www.awi.de/en/about-us/service/expert-database/antje-boetius.html">Professor Dr. Antje Boetius</a>, a marine researcher and microbiologist.



&#8220;My sisters were some of my strongest role models growing up and we all built careers based on our interest in STEM,” said Anne. “Our parents fostered independence and a belief that we could truly be anything we wanted to be when I grew up, but most important was to pursue a passion. I’m honored to celebrate International Women’s Day this year with Barbie alongside my family and these other powerful women in STEM leadership roles. I hope that sharing our stories encourages young girls to try something new, face something that may scare them, and look at challenges as exciting opportunities.”&nbsp;



<h6 class="wp-block-heading">Bridging the Dream Gap</h6>



Research shows that starting at age five, many girls begin to develop self-limiting beliefs and think they&#8217;re not as smart and capable as boys. They stop believing their gender can be anything. This issue is called the “dream gap.” &nbsp;It may also contribute to the need for more representation in careers grounded in science, technology, math, and engineering. To address this, Barbie launched the Dream Gap Project in 2018 — an ongoing global initiative that gives girls the resources and support they need to continue believing in themselves.



<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/2023/03/AWBarbieFilming-99-1024x768.jpg" alt="A photo of Anne and three girls holding up their beaded bracelets." class="wp-image-31234" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-99-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-99-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-99-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-99-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-99-1180x885.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



As part of the effort, the people from Barbie®’s “You Can Be Anything” YouTube series came to 23andMe headquarters to film Anne with three young girls from the <a href="https://www.bgcp.org/">Boys &amp; Girls Clubs of the Peninsula</a> — Kylie, 6, Emily, 8, and Arabella, 10. Together they talked a little bit about their dreams and goals, did some activities, and chatted about science.



<h6 class="wp-block-heading">A Primer on DNA</h6>



But first, Kylie had a question.



&#8220;Who named this place?&#8221; she asked.&nbsp;



<figure class="wp-block-embed aligncenter is-type-rich is-provider-embed-handler wp-block-embed-embed-handler wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Science = FUN! | Barbie | You Can Be Anything" width="500" height="281" src="https://www.youtube.com/embed/SOtl97UANb0?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;I did,&#8221; Anne said.&nbsp;



It was a good question because the &#8220;23&#8221; in 23andMe, stands for the 23 pairs of chromosomes in each of us. And the question gave Anne a chance to explain to the girls a little bit about DNA and how much we share. We&#8217;re each 99.5 percent genetically similar, but that tiny difference in our DNA makes us each unique. That all segued nicely into the girls&#8217; project making bracelets with colored beads representing the four chemical bases of DNA — adenine (A), cytosine (C), guanine (G), and thymine (T).&nbsp;



Why bracelets?&nbsp;



A DNA molecule consists of two parallel strands twisted around each other. They&#8217;re held tight by a bond between the bases. Anne explained how each base, the ACG and Ts of our DNA, always pairs with the same complementary base. So, an A always pairs with a T, and C with G. The girls used this to create paired beaded bracelets. One of the bracelets they could keep and the other they could give to a friend.



<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/2023/03/AWBarbieFilming-38-683x1024.jpg" alt="" class="wp-image-31270" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2023/03/AWBarbieFilming-38-scaled.jpg 1707w" sizes="auto, (max-width: 683px) 100vw, 683px" /></figure>



<h6 class="wp-block-heading">Genes not Jeans</h6>



For Emily, creating the bracelets was the most fun part of the visit. However, each girl said they learned something new talking to Anne. Arabella was fascinated by the fact that humans and mice share DNA, while Kylie said she learned something about &#8220;genes.&#8221;



&#8220;Not these ones,&#8221; she added, pointing to the jeans she was wearing.



This effort by Barbie® is also grounded in encouraging girls to believe that they can be anything.&nbsp;



That message was loud and clear for Kylie, Emily, and Arabella. Each had goals and ambitions not hemmed in by expectations or lack thereof. Kylie and Arabella said they were interested in business because it sounded exciting. The prospect of earning good money was enticing. Emily was interested in math, mostly because she doesn&#8217;t love reading.&nbsp;



Yet what they will ultimately do was wide open. They mentioned being a doctor, chef, actor, or dancer. Each of the girls felt empowered to be whatever they wanted to be.



Learn more about Barbie®&#8217;s Dream Gap Project <a href="https://shop.mattel.com/pages/barbie-dream-gap">here</a>.



To watch the You Can Be Anything series, visit <a href="https://www.youtube.com/watch?v=UipnUlq81JI&amp;t=616s">here</a>.



To learn more about the Boys and Girls Club of the Peninsula, go <a href="https://www.bgcp.org/">here</a>.



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



<h6 class="wp-block-heading">Making Your Own DNA Bracelet at Home</h6>



Want to get in on the fun and see how Kylie, Emily, Arabella, and Anne made their bracelets? Here’s how you can do it at home.



We have templates for four types of bracelets that are meant to represent the DNA of four different animals: a Monarch Butterfly, an American Black Bear, a rattlesnake, and an African Leopard.&nbsp;



First off you’ll need some string and a few dozen beads of four different colors. We used purple, green, blue and red — to represent the bases that make up DNA — adenine (A), cytosine (C), guanine (G), and thymine (T). Each bracelet has 21 beads. Part of the fun of this activity is creating a paired bracelet to match. Make sure you have enough beads of each color to make two full strands.



Below are more detailed instructions and the sequence for each animal. Have fun! 



<figure class="wp-block-gallery has-nested-images columns-default is-cropped wp-block-gallery-1 is-layout-flex wp-block-gallery-is-layout-flex">
<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="429" height="1024" data-id="31149" src="http://35.88.189.111/wp-content/uploads/2023/02/Butterfly-Bear-Snake-and-Leopard-1-429x1024.jpg" alt="" class="wp-image-31149" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Butterfly-Bear-Snake-and-Leopard-1-429x1024.jpg 429w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Butterfly-Bear-Snake-and-Leopard-1-126x300.jpg 126w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Butterfly-Bear-Snake-and-Leopard-1-494x1180.jpg 494w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Butterfly-Bear-Snake-and-Leopard-1.jpg 524w" sizes="auto, (max-width: 429px) 100vw, 429px" /></figure>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="451" height="1024" data-id="31148" src="http://35.88.189.111/wp-content/uploads/2023/02/bracelet-instructions-1-451x1024.jpg" alt="" class="wp-image-31148" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/bracelet-instructions-1-451x1024.jpg 451w, https://blogcms.23andme.com/wp-content/uploads/2023/02/bracelet-instructions-1-132x300.jpg 132w, https://blogcms.23andme.com/wp-content/uploads/2023/02/bracelet-instructions-1-387x880.jpg 387w, https://blogcms.23andme.com/wp-content/uploads/2023/02/bracelet-instructions-1-520x1180.jpg 520w, https://blogcms.23andme.com/wp-content/uploads/2023/02/bracelet-instructions-1.jpg 568w" sizes="auto, (max-width: 451px) 100vw, 451px" /></figure>
</figure>

A photo portrait of Anne Wojcicki, 23andMe's CEO and co-founder

Inspiring Young Girls

Being Black in Tech



By Elo Ratliff,* MPH



To honor Black History Month, we decided not to look backward this year but instead to look inward at 23andMe, asking Black professionals here for their perspective on working in biotechnology where representation is still sorely lacking.



Being Black in tech you often find yourself being the only, or one of a very few, Black people in the room. Getting comfortable with that is important, and for the Black and African American community, history has shown us it’s that resiliency which is the antidote to remedy this lack of representation.&nbsp;



<h2 class="wp-block-heading" id="h-community">Community</h2>



That resiliency can help change the narrative in spaces where we do not typically see ourselves. In talking to my fellow members of the Black@23andMe Employee Resource Group (ERG), an affinity group aimed at supporting 23andMe employees who identify as Black, it takes more than just resiliency; it also takes community and support to sustain meaningful change.&nbsp;



For young Black professionals exploring their career paths, there are very limited outlets to expose them to job opportunities in technology, and many think that even if they do have some type of scientific or engineering background, they cannot work in tech. 



<h2 class="wp-block-heading">Pathfinding</h2>



For 23andMe Research Associate Shaeloren Deering, who came to 23andMe after attending Spelman College and Morehouse School of Medicine in Atlanta, simply finding the path to a career in tech is harder for those in the Black community.&nbsp;



“I wish there were more avenues to expose future Black professionals to the various career opportunities in tech,” said Shaeloren, who supports recruitment efforts for 23andMe’s Therapeutics team.&nbsp;&nbsp;



<h2 class="wp-block-heading">Support</h2>



But the challenges for Black tech workers don’t stop after you finally land a job. From building a network of support, to feeling overwhelmed by constantly being the minority, to lack of representation in leadership roles, it is challenging. 



There is immense pressure to always show up when you are one of the only minorities in the room, and pressure to suppress your authentic self to feel more accepted and validated in your thoughts.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="360" height="260" src="http://35.88.189.111/wp-content/uploads/2023/02/Black@logo.png" alt="" class="wp-image-31187" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Black@logo.png 360w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Black@logo-300x217.png 300w" sizes="auto, (max-width: 360px) 100vw, 360px" /></figure>



There are many efforts to support underrepresented groups at 23andMe, and our ERGs are a part of that. 23andMe has also embraced Diversity, Equity, and Inclusion (DEI), which is the idea that the workplace needs to ensure that no matter what community an individual belongs to, they always feel they are being treated fairly and are not being discriminated against due to any parts of their identity. Most often, a DEI strategy helps disadvantaged groups feel a sense of belonging in the workplace.&nbsp;



<h2 class="wp-block-heading">Being Your Authentic Self</h2>



23andMe has done a lot of work with DEI, but despite these efforts, for many of us in the Black community it’s hard to shake the lifelong experience of “being different.” 



That, in turn, has altered our perceptions of how to be our “authentic selves” in the workplace. Lameisha Dubose, a Senior Sarbanes-Oxley Act Compliance Analyst, said it’s important to have a community and support in the workplace where you feel comfortable to be your “true self.” She calls this:



“Standing in my truth and finding my tribe.”



Lameisha echoed the sentiments of many others who are part of Black@23andMe. Each indicated in their own way how much they rely on their own “tribe.” That might mean simply finding support through an employee resource group; it can also mean leaning on allies, or trusted friends at work with whom they feel safe, valued, and a sense of belonging.&nbsp;



<h2 class="wp-block-heading">Purpose</h2>



What helps sustain us all is our “WHY.” Why are we here? We understand that while being a minority in these spaces can be challenging, we are also paving the way for future generations of young Black professionals to come into this space and hopefully be free, or limited in the disparities we are experiencing. But we are also professionals motivated by the innovative world of technology and the possibilities it brings.



Liz Babalola, a Senior Program Manager with 23andMe’s Research team and expert in public health and quantitative research, draws her motivation from the power of technology to transform.



“I am excited about AI driven analytics and machine learning,” said Liz.



Liz’s excitement to leverage new technology to drive change, particularly to help people live healthier lives, motivates all of us.



“For healthcare, I am excited to see all the new developments that can help those who may have been helpless before,” said April Ward, a Pharmacy Office Administrator.



At our core, we all love working in biotechnology because of what is possible &#8211; whether it’s finding new insights into disease, treating those conditions, or delivering important health information people can use to lead healthier lives.&nbsp;



The work we do is fun, especially when we get to do these things at a company that continuously strives to build a culture where every employee feels like they are just as important as the person next to them. Luckily for us, 23andMe is that company and has worked hard over the years to ensure DEI is a top priority. We are still learning (every company is), but the openness to learn and the support from the top down to make sure we are working towards “getting it right” is the most important step to yield change, and we are doing that.



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



*Elo Ratliff, MPH, is a Senior Project Manager for Genomic Health at 23andMe and Co-Lead of the Black@23andMe ERG.

A photo of five of the young women who participated in 23andMe's Being Black in Tech discussion

Eloycsia Ratliff

Being Black in Tech

23andMe has added finer detail for customers with roots that trace back to Spain and Portugal.



This update is part of our continuing work to improve our Ancestry reports and features. It will also allow customers with ancestry from those regions to see connections back to 43 genetic groups. These groups include 29 in Spain (including the Canary and Balearic archipelagos). In addition there are another 14 in Portugal (including the Azores and Madeira archipelagos). The update will affect about 10 percent of our customers who 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>. 



Spain and Portugal&#8217;s long colonial history means that many individuals with roots in the Americas may also see how those trace back to the Iberian Peninsula. Spain and Portugal have distinct and rich cultures and histories, but their histories also intertwine. Part of that history includes centuries of exploration, colonization, and trade, including the slave trade.&nbsp;



Iberian Peninsula



Bordering the Atlantic and at the mouth of the Mediterranean, the history of the people of the Iberian Peninsula is marked by their ocean-going explorations and influences from North Africa. The Moors ruled the peninsula for almost 800 years, and this influence can still be seen in both Spain and Portugal. But even older influences from the Greeks, Phoenicians, and Romans, are apparent. Each of these cultures have left a distinct imprint on the culture and history of the Iberian peninsula.&nbsp;



Ancestry Composition Update



23andMe&#8217;s Ancestry Composition report is a living analysis that improves as we add new reference data. Underlying our Ancestry reports are powerful algorithms and analytical tools developed by 23andMe population geneticists and engineers to offer our customers more insights into their ancestral origins.



Over the last few years, we&#8217;ve updated results for people with <a href="https://blog.23andme.com/ancestry-reports/african-ethnolinguistic-groups/">African Ancestry</a>, <a href="https://blog.23andme.com/ancestry-reports/ancestry-composition-update-china/">Chinese ancestry,</a> <a href="https://blog.23andme.com/ancestry-reports/indigenous-genetic-ancestry/">Indigenous American ancestry</a>, and <a href="https://blog.23andme.com/ancestry-reports/caribbean-latin-american/">Latinx ancestry</a>, for instance. Customers may already see evidence of recent ancestry from the Iberian Peninsula. However, this update and these genetic groups represent improvements in accuracy. They are also more reflective of the distinct regional populations and customers&#8217; ancestry.



Regions in Spain and Portugal



In this update, the new methodology and algorithms use data from groups of people of Spanish or Portuguese ancestry with grandparents from specific regions in the Iberian Peninsula, and some of these regions overlap. Using this method we can connect customers with Portuguese or Spanish ancestry to those regional genetic groups through their shared DNA.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="926" height="422" src="http://35.88.189.111/wp-content/uploads/2023/02/Spanish-Portuguese-percents.png" alt="" class="wp-image-31125" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Spanish-Portuguese-percents.png 926w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Spanish-Portuguese-percents-300x137.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Spanish-Portuguese-percents-768x350.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Spanish-Portuguese-percents-880x401.png 880w" sizes="auto, (max-width: 926px) 100vw, 926px" /></figure>



For 23andMe customers with Portuguese ancestry, the update most commonly includes matches to the regions of Porto, Minho, and Via Real, as well as Central and Southern Portugal and Madeira. The least common regions for matching are Terceira, Santa Maria and Flores, Corvo, and Graciosa in the Azores.



For customers with Spanish ancestry the most common matches will be to Western Andalusia (near Huelva, Seville, and Badajoz). Also customers with Spanish ancestry will more commonly see Southern Andalusia (near Cadiz), as well as to the Canary Islands matches. The least common regions are Galician and Basque associated regions in northern Spain. 



<h6 class="wp-block-heading" id="h-more-on-matching">More on Matching</h6>



Among customers on the <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a>, V5, who have more than 95 percent of their ancestry from the Iberian peninsula, around 40 percent will match with at least one Portuguese genetic group. Similarly, for customers on the latest chip with over 75 percent of their ancestry from the Iberian peninsula, approximately 40 percent will be matched to at least one Spanish genetic group.



Matching to one of these genetic groups means that you share a high genetic similarity with people in that group. Some regions overlap. But we&#8217;ve distinguished each geographically and descriptively. The names of these genetic groups also attempt to indicate the geographic regions.



Customers may receive a likely or highly likely match to one of these genetic groups. However, this update does not provide more breakdowns for customers&#8217; Spanish and Portuguese ancestry percentages. 



Your ancestry matters for your health



Many people find value in learning about their cultural roots but understanding your ancestry can also help you better understand your health. Your health and your likelihood of developing certain conditions involves several factors. These factors include your environment, family history and lifestyle. However, your genetics also plays an important role.



In some cases, that can be specific to the unique history of our ancestral groups.&nbsp;



So, for example, V30M, a genetic variant associated with<a href="https://www.23andme.com/topics/health-predispositions/hereditary-amyloidosis/"> TTR-related hereditary amyloidosis</a> is more common among people of <a href="https://pubmed.ncbi.nlm.nih.gov/12832749/#:~:text=Portuguese%2Dtype%20amyloidosis%20(transthyretin%20amyloidosis%2C%20ATTR%20V30M)%20is,inherited%20in%20autosomal%20dominant%20mode.">Portuguese ancestry</a>. It&#8217;s also common in people of Northern Swedish and Japanese ancestry. The condition causes a buildup of a protein called transthyretin (TTR) in the body&#8217;s tissues and organs. That build up can damage the nerves, the heart, or other organs in the body. 



People of Iberian descent have a higher likelihood of having one of the genetic variants linked to <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency/">alpha 1 antitrypsin deficiency</a>. Alpha 1 antitrypsin deficiency is a genetic condition that can lead to lung and liver disease



Find out more



23andMe customers who want to learn more about their Ancestry Composition can go <a href="https://you.23andme.com/reports/ancestry_composition_hd/">here</a>. 



Not yet a customer? 



Find out more about 23andMe’s Ancestry service and other services offered to customers here.

A map of Spain and Portugal noting the 43 new genetic groups in Iberia.

23andMe Adds More Detail for Spanish and Portuguese Ancestry

For anyone with a rare disease, the winding journey from symptoms to diagnosis to treatment is often long and isolating.&nbsp;



And yet the singularity of that lonely experience — the often-frustrating search for answers and treatment, if there is even treatment available — is surprisingly common for those with a rare disease. On average, it takes five years or more to reach a diagnosis, according to the <a href="https://rarediseases.org/new-patient-journey-infographic-gives-a-glimpse-into-the-diagnostic-odyssey/">National Organization for Rare Diseases.</a>&nbsp;



<h6 class="wp-block-heading" id="h-essential-thrombocythemia">Essential Thrombocythemia</h6>



As part of Rare Disease Day, 23andMe wanted to shine a light on Dima, a software test engineer with essential thrombocythemia, a rare blood disorder that includes symptoms like difficulty breathing, weakness, fatigue, and blood clots that can lead to strokes &#8211; and is one of the rare diseases 23andMe is studying. His experience echoes that of many people living with one of the more than 7,000 known rare diseases.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="853" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/01/Dima-Image-853x1024.jpeg" alt="" class="wp-image-31082" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-853x1024.jpeg 853w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-250x300.jpeg 250w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-768x922.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-733x880.jpeg 733w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Dima-Image-983x1180.jpeg 983w" sizes="auto, (max-width: 853px) 100vw, 853px" /></figure>



A rare disease, by definition, affects 200,000 or fewer people, but because there are so many of these conditions, many millions of people like Dima live with a rare disease. It&#8217;s estimated that between <a href="https://rarediseases.info.nih.gov/about/">one-in-ten</a> to <a href="https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/">one-in-13</a> people in the United States have a rare disease. In other words, millions of people, each struggling to sort out how to navigate a journey with few clear markers of where to go next. These are individuals who are often faced with unexplained symptoms that neither they nor their doctor can explain.&nbsp;



&#8220;It’s hard to say when my symptoms began,” said Dima.



<h6 class="wp-block-heading">Waiting for a Diagnosis</h6>



For more than six years, Dima had consistently seen elevated platelet levels in his blood tests. On top of that he had other symptoms — nosebleeds, numbness, fatigue, and flashes in his eyes. But his doctor failed to recognize the abnormalities in his blood or to connect them to his other symptoms.



Dima wasn’t diagnosed until 2021 when he was rushed to an emergency room.



“After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot,” Dima said. “I underwent an emergency surgery where a blood clot was removed from my carotid artery.”



After several tests, including a genetic test, as well as a bone marrow biopsy, he was diagnosed with essential thrombocythemia, a rare type of myeloproliferative neoplasms (MPN) in which the bone marrow produces too many platelets.&nbsp;



“I’d never heard (essential thrombocythemia) or MPN before I was diagnosed,” he said.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="381" height="154" src="http://35.88.189.111/wp-content/uploads/2023/02/Green-DNA-thread.png" alt="" class="wp-image-31177" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Green-DNA-thread.png 381w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Green-DNA-thread-300x121.png 300w" sizes="auto, (max-width: 381px) 100vw, 381px" /></figure>



<h6 class="wp-block-heading">Finding Support</h6>



Dima’s experience is not so different from a lot of people with a rare disease. It often takes years for a diagnosis. Even when a proper diagnosis is made, it might be difficult to find effective treatments.&nbsp;&nbsp;



In Dima’s case he is being treated with a drug called an antiviral interferon drug, that has a host of serious side effects, but appears to be helping. He’s also joined an advocacy group called <a href="https://www.mpnvoice.org.uk/about-mpns/questions/essential-thrombocythaemia-et/">MPN Voice</a>. He knows he is lucky, there are&nbsp; approved treatments for fewer than 5 percent of the known rare diseases. And the fact that they are rare also makes them that much more challenging to study.&nbsp;



Finding enough people with one of these conditions to participate in research is often difficult, and this can be particularly difficult among people of non-European descent who are already underrepresented in research. 



<h6 class="wp-block-heading">Researching Rare Diseases</h6>



23andMe has an ongoing effort to improve the diversity of our research more broadly and will regularly contact customers in underrepresented groups through our rare disease research. An example of that is our <a href="https://blog.23andme.com/articles/sarcoidosis-representation">Sarcoidosis Research Study</a>, a rare condition that impacts the Black community at double the rate of people of European descent.



While each of the rare diseases 23andMe is studying is different, our research model combines genetic and phenotypic data from millions of people who&#8217;ve consented to participate in research, offering unique opportunities to study these conditions. It&#8217;s not just that understanding the genomics of rare diseases can help scientists understand the underlying causes; it&#8217;s that the scale of 23andMe&#8217;s data and the fact that people can participate online and from home allows our researchers to quickly gather insights from large numbers of people with a rare disease. In 2021, researchers from 23andMe presented some of their <a href="https://blog.23andme.com/articles/rare-disease-research">early findings</a> that helped to illustrate our ability to leverage that data to gain insights quickly.&nbsp;



<h6 class="wp-block-heading">Rare Disease Study</h6>



In 2022 23andMe launched a rare disease study, the Rare Disease Research Study, which has grown to include a <a href="https://blog.23andme.com/articles/rare-disease-expanded-study">dozen rare diseases</a>. This work offers an incredible opportunity to speed progress toward treatment. Among the diseases 23andMe is studying is <a href="https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/">essential thrombocythemia</a>, the condition affecting Dima&#8217;s life.&nbsp;



In just four months since launching our Rare Disease Study, 23andMe has already recruited more than 1,500 individuals across all the rare diseases we are researching. That’s incredibly fast for rare disease research, and 23andMe already has some of the largest cohorts for some of these very rare conditions. 23andMe’s study of <a href="https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/?utm_source=google&amp;utm_medium=search_generic&amp;utm_campaign=US_ET_sales_google-search&amp;utm_term=thrombocythemia">essential thrombocythemia</a>, the condition Dima is living with, is expected to reach its goal of recruiting 1,000 participants by the fall of 2023.



The work has already been noticed, especially among advocates for those living with rare diseases who are pushing to raise awareness and spur new research.



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



<h6 class="wp-block-heading">Dima Answers Some Questions about Living with a Rare Disease</h6>



<h6 class="wp-block-heading">When were you diagnosed, and how long did it take from when you had your first symptoms to get a diagnosis?</h6>



I was diagnosed in 2021 at the age of 31. I had symptoms of a stroke and was taken to the emergency department. After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot. I underwent an emergency surgery where a blood clot was removed from my carotid artery. After doing a genetic test for JAK2 V617F mutation (which returned positive) and two bone marrow biopsies, I was officially diagnosed with essential thrombocythemia &#8211; a rare type of Myeloproliferative neoplasms (MPNs) in which the bone marrow produces too many platelets.



<h6 class="wp-block-heading">Can you give some sense of what it is like to have something wrong — symptoms — but not know and not having doctors know what it is that is wrong with you?</h6>



In my case it was devastating. I had a history of consistently elevated platelets since 2016. My (doctor) failed to recognize the issue, check for underlying conditions and diagnose me. He never referred me to a hematologist. After each routine blood test I was told that my results were normal, even though I saw elevated platelets in results. All complaints about my symptoms were neglected.



I believe the blood clot forming could have been prevented and the surgery could have been avoided if I was diagnosed and started treatment earlier.



I also blame myself for not paying more attention to my blood test results and for blindly trusting doctors. Lesson learned the hard way. Now I do my extensive research before going to doctors for any reason. I do my best to educate myself as much as possible and verify every recommendation I get from doctors.



<h6 class="wp-block-heading">When you heard the diagnosis, was it something that you were familiar with?</h6>



I’d never heard about essential thrombocythemia or myeloproliferative neoplasms before I was diagnosed.



<h6 class="wp-block-heading">Do you stay up on research?</h6>



When I was first diagnosed, I spent a significant amount of time going through available research and collecting information about treatment options. Today I’m trying to stay on top of new research. In addition to that I receive weekly subscription email from the MPN Voice community on<a href="https://healthunlocked.com/"> https://healthunlocked.com</a>. This community is very active. Multiple people all around the world share their stories, treatment options and side effects, research and studies, news and more importantly support to each other.



<h6 class="wp-block-heading">Are you involved in any clinical trials?</h6>



At this moment I’m not involved in any clinical trials however if opportunity arises, I will be open to it.



<h6 class="wp-block-heading">What do you believe people should know about rare diseases in general and how they might be able to help?</h6>



Of course it would be helpful and beneficial for people to be aware of rare diseases. However, there are so many rare diseases that the general population has never heard about them. I learned about the existence of MPNs only after I was diagnosed with it. People are not trained to analyze symptoms. They might not recognize that their symptoms are a result of some underlying condition and simply brush it off.&nbsp;



That is why we go to doctors when something bothers us. And that’s why I want to have more trust in doctors’ ability to listen to patients, recognize and diagnose them correctly and timely.

Raising Awareness of Rare Disease

Some types of close relatives, like aunt, uncle, half-sibling, nephew, niece, grandparent, and grandchild have very similar patterns of shared DNA, making predicting those relationships from DNA alone difficult. That’s why some customers might see someone incorrectly labeled as one of these relationships. To help improve detection of these relationships, 23andMe is now using a new technique that analyzes DNA from full siblings.



23andMe, like other companies, uses shared segments of DNA to detect customers’ relationships to each other. But unlike other companies, we also combine information from every pair of relatives using 23andMe’s <a href="https://blog.23andme.com/23andme-research/large-human-pedigrees/">Bonsai software</a>. In addition to <a href="https://blog.23andme.com/ancestry-reports/23andmes-latest-feature-automates-genetic-family-trees/">building your 23andMe Family Tree</a>, Bonsai uses segments from multiple pairs of relatives at once, allowing it to make a better prediction than if we only analyzed you and each of your relatives one by one.&nbsp;



Still, no way of estimating relationships from DNA is perfect, and that’s true even for close relatives.&nbsp;



<figure class="wp-block-table"><table><tbody><tr><td>Relationship</td><td>Amount of DNA shared (95% confidence interval)*</td><td>Age distribution 23andMe uses (95% confidence interval)</td></tr><tr><td>Half-sibling</td><td>~19.8-30.2%</td><td><style>
span:after {
content: "\2264";}
</style>
<style>
span:after {
content: "\2264";}
</style> 17.4 year age difference</td></tr><tr><td>Avuncular (aunt/uncle- nephew/niece)</td><td>~20.3-29.7%</td><td>17.5 &#8211; 39.3 year age difference</td></tr><tr><td>Grandparental</td><td>~18.7-31.3%</td><td>45.3 &#8211; 67.7 year age difference</td></tr></tbody></table><figcaption class="wp-element-caption">* Calculated using shared segments from the autosomes (i.e., excluding the X and Y chromosomes) from <a href="https://github.com/williamslab/ped-sim">simulated relatives</a>.</figcaption></figure>



<h6 class="wp-block-heading">Using ages or shared parents to distinguish relative types</h6>



Telling these relative types apart is especially difficult because the amount of DNA each type shares is almost identical (see the above table). Because of this similarity, Bonsai relies on customers’ self-reported ages to make a decision about their relationships.&nbsp;&nbsp;



Even though general age differences exist between these relative types—half-siblings are typically closer in age than aunt-nephew or uncle-niece relatives—there are always families that don’t follow these trends. In such families, Bonsai is prone to making mistakes. For example, as shown in the above table, Bonsai will often consider half-siblings who were born 20 years apart as avuncular or it will confuse a grandmother for an aunt if the grandmother is less than 40 years older than her grandchild.



It’s worth noting that if the parent who links two half-siblings, a grandparent and grandchild, or an aunt/uncle and niece/nephew is a 23andMe customer, Bonsai would detect this and get the relationship right in nearly all cases.&nbsp;



For example, in the figure below, if we had data for Ava and Beau’s parents, Bonsai would almost always infer their mystery relative correctly as the aunt of the two siblings. Still, not all families have these parents or other informative relatives tested, and in the end, Bonsai predicts a significant fraction of half-sibling and avuncular relatives (aunt/uncle or niece and nephews) incorrectly when it relies on age data alone to distinguish between them (see the table near the end of this post).



<figure class="wp-block-image size-full is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/02/Mystery-Relative.png" alt="" class="wp-image-31115" width="650" height="410" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Mystery-Relative.png 856w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Mystery-Relative-300x189.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Mystery-Relative-768x484.png 768w" sizes="auto, (max-width: 650px) 100vw, 650px" /><figcaption class="wp-element-caption">On average, people share ~25 percent of their DNA with half-siblings, aunts, uncles, nieces, nephews, grandparents, or grandchildren. Based only on a DNA comparison of a pair of relatives, it is difficult to distinguish between these relationships and pinpoint the correct one.&nbsp; But there&#8217;s a simple trick to help narrow down the correct relationship when one person in the pair has a full sibling: If—at the same location in their genomes—a pair of siblings share identical segments of DNA with another relative, and those siblings do not share any DNA at those locations with each other, this often means that the relative is an aunt or an uncle to the siblings. Having more than 90 cM of such locations almost always means the relative is an aunt or uncle.</figcaption></figure>



A new approach for distinguishing aunts and uncles from other relative types



The ambiguities between these relationships would be impossible to fully resolve except for the fact that information from shared DNA segments can be combined and their positions analyzed across multiple relatives.&nbsp;



In the case of distinguishing avuncular from half-sibling or grandparental relationship types, we can leverage information carried by DNA segments that are shared between full siblings. Full siblings are related through both of their parents, and this leads them to have a somewhat unique pattern of sharing: an average of 25 percent of their DNA is contained in fully identical segments. This is roughly 880 centiMorgans in 23andMe customers. (<a href="https://isogg.org/wiki/CentiMorgan">CentiMorgans</a>, or “cM,” are a unit of measuring lengths of DNA.) In other words, full siblings have certain sections of their chromosomes where they each inherited a matching segment of DNA from their mom and, at the same location, a matching segment of DNA from their dad. With such high fully identical sharing rates, genetic relationship prediction methods rarely make mistakes when labeling full siblings.



<h6 class="wp-block-heading">A Technique for Detecting Aunts and Uncles</h6>



Researchers at Cornell University used this signature of fully identical segments from full siblings to build <a href="https://www.sciencedirect.com/science/article/pii/S0002929718301691">a technique for detecting aunts and uncles</a> of a pair of siblings even if their parent has not had their DNA tested. 



The idea is to find places where the shared segments between siblings Ava and Beau and their aunt or uncle indicate that the siblings’ parent has a fully identical segment with the aunt or uncle. If this recovers a lot of fully identical shared segments, we can be quite confident that the aunt or uncle is an aunt or uncle and not a half-sibling, niece, nephew, grandparent, or grandchild.



<h6 class="wp-block-heading">Full siblings </h6>



Consider the figure below that again shows DNA from the full siblings Ava and Beau, their father Tom, and the father&#8217;s full sister, Maria. In the highlighted regions, Ava and Beau inherited DNA from different copies of their father’s chromosomes: Ava inherited DNA from their father’s mom and Beau from their father’s dad. Because of this (and because they inherited DNA from different copies of their mother’s chromosomes), Ava and Beau have no shared segments with each other in the chromosomal region with a box around it. 



This fact allows us to reason about whether, in the boxed region, the untested father had a fully identical segment with Maria (the potential aunt). Sure enough, in this location, Maria is fully identical to Tom (has the same DNA as him) and has a shared segment to each of the siblings. All this allows us to conclude that, in this region, the father does have a fully identical segment to Maria, and, with enough of these present, the updated version of Bonsai would conclude that Maria is Ava and Beau’s aunt and not any of the other relationship types with similar amounts of shared segments.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="776" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-776x1024.png" alt="" class="wp-image-31116" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-776x1024.png 776w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-227x300.png 227w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-768x1013.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-667x880.png 667w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer-894x1180.png 894w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Fully-Identical-Graphic-Explainer.png 952w" sizes="auto, (max-width: 776px) 100vw, 776px" /></figure>



<h6 class="wp-block-heading">Can other close relatives have this pattern of shared DNA?</h6>



Importantly, neither a grandparent, grandchild, half-sibling, niece, or nephew is expected to have fully identical sharing with Ava and Beau’s parent, or with the parent of any pair of siblings. The key reason is that fully identical regions occur at places where two people inherited the same DNA from both their parents.&nbsp;



Because full siblings share the same two parents, fully identical regions arise most frequently between them. You can see this above by looking at Ava and Beau’s parent Tom and his full sibling Maria. A half-sister of Ava and Beau through Tom should not share fully identical segments with Tom because she would have inherited only one chromosome from him—and the other from her mother. That mother will typically be unrelated to Tom and so will not share DNA with him. Similarly, Ava’s grandson would inherit Ava’s DNA, but only on one of his chromosomes, making fully identical sharing with Ava’s father Tom impossible in nearly all cases. By the same token, Ava’s grandmother (Tom’s mother) shares DNA with Tom on only one chromosome, and Ava and Beau’s nephew, being Tom’s grandchild, could only inherit DNA from one of Tom’s chromosomes at any location.



<h6 class="wp-block-heading">Fully Identical Segments</h6>



Even though this technique&nbsp; is designed to detect aunts and uncles, when a half-sibling does not have these implied fully identical segments, that provides evidence that they are half-siblings, and this can override the age-based relationship detection in Bonsai.&nbsp;



For example, if two full siblings had a half-sister that is &gt;20 years older than each of them, the old version of Bonsai would predict the half-sister as the aunt of the two full siblings (assuming other close relatives such as the shared parent had not done a 23andMe test). However, the latest Bonsai version would look for implied fully identical segments, and, finding few or none of these, it would conclude that a half-sibling relationship is more likely than aunt. Therefore ages have less influence on the Bonsai relationship prediction for these classes of relationships (half-sibling, avuncular, and grandparent-grandchild) than before this new release.



<h6 class="wp-block-heading">Incorporating this technique into Bonsai greatly improves relative prediction accuracy</h6>



<figure class="wp-block-table"><table><tbody><tr><td>Relationship to full sibling pair</td><td>Percent correct without IBD011</td><td>Percent correct with IBD011</td></tr><tr><td>Aunt/uncle</td><td>98.7%</td><td>~100%</td></tr><tr><td>Half-sibling</td><td>75.6%</td><td>83.8%</td></tr><tr><td>Grandparent</td><td>97.9%</td><td>98.6%</td></tr></tbody></table></figure>



We have incorporated this technique (which researchers called IBD011 for reasons described in the summary figure below) into the latest version of Bonsai. The table above shows the percent of relatives that Bonsai correctly infers both without the IBD011 signal and with it. Bonsai does very well in both settings, but always much better when using IBD011, so it now works better at telling apart half-sibling, avuncular, and grandparent-grandchild relatives.&nbsp;



<h6 class="wp-block-heading">Here’s how you can apply this updated Bonsai method to your relative predictions:</h6>



You can use this updated Bonsai method by rebuilding your family tree. To do this, you can request a recalculation of your tree through a link in the DNA Relatives FAQ page, in the question called “<a href="https://you.23andme.com/tools/relatives/faq/#how_do_i_recalculate">How do I recalculate my tree?</a>”&nbsp;



The 23andMe database currently includes over 2 million customers who could be affected by this update, which translates to many thousands of relationships potentially changed. For those of you with a full sibling and a predicted half-sibling, aunt, or uncle, the updated Bonsai may produce a different (and more trustworthy) tree.&nbsp;



Keep in mind that unfortunately your tree annotations don’t carry over when you rerun Bonsai. Still, some of you will see changes and the predictions Bonsai now makes are much more reliable for the close relationship types discussed here.



<h6 class="wp-block-heading" id="h-what-is-ibd011">What is IBD011?</h6>



On average, people share ~25% of their DNA with their half-siblings, aunts, uncles, nieces, nephews, grandparents, or grandchildren, among a few other less common relationship types.&nbsp;



Based only on a DNA comparison of a pair of relatives, it can be very difficult to distinguish between these relationships and pinpoint the correct one.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="756" src="http://35.88.189.111/wp-content/uploads/2023/02/IBD011-Image-1024x756.png" alt="" class="wp-image-31117" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image-1024x756.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image-300x221.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image-768x567.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image-880x650.png 880w, https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image-1180x871.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/02/IBD011-Image.png 1390w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



But there&#8217;s a simple trick to help narrow down the correct relationship when one person in the pair has a full sibling: If — at the same location in their genomes — siblings share identical segments of DNA with a relative, and those siblings do not share any DNA at those locations with each other, this almost always means that the relative is an aunt or an uncle.&nbsp;

New Algorithm Cleans Up 23andMe Family Trees

February is a time for celebrating Black history. While we&#8217;re doing that here at 23andMe, we&#8217;re also reflecting on our efforts to address the disparities in biomedical and genetic research for people of African ancestry.



We want to share some of what we&#8217;ve been doing over the last year or so — around sickle cell disease and for a rare condition called sarcoidosis, both of which impact the Black community at much higher rates than other populations. But first, we want to give you some context and history.



Representation is important because, without it, the benefits from research fail to help all people, further compounding health disparities.



In addition to it being the right thing to do, improving representation also makes for good science. For example, research shows that <a href="https://www.nature.com/articles/s41586-019-1310-4">genetic studies that include diverse, multi-ethnic participants</a> have a higher chance of discovering significant genetic variants associated with diseases. Researchers would have missed those associations if the studies had only focused on one homogenous group.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="717" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg" alt="" class="wp-image-30161" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-300x210.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-768x538.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-880x616.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1180x826.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-representation-in-23andme-research">Representation in 23andMe Research</h6>



So, what is 23andMe doing to address these research disparities?



23andMe&#8217;s vice president for Research, Joyce Tung addressed that question two years ago in <a href="https://www.statnews.com/2020/06/10/23andme-ancestry-racial-inequity-genetics/">an opinion piece</a>, saying:



&#8220;There is no silver bullet to solve this problem, and it will require prioritizing multiple efforts now and into the future to ensure that we help everyone benefit from the human genome.&#8221;&nbsp;



We have made it a priority and done a lot, but we have so much more work.



Our first significant effort to address research disparities goes back to 2011 when we launched our <a href="https://www.23andme.com/roots/">Roots into the Future</a>. For this project, we recruited 10,000 African Americans to participate in research and help improve the kind of research we could do within the Black community.&nbsp;



Since then, we&#8217;ve had a steady cadence of projects, the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, the <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project</a>, and the <a href="https://blog.23andme.com/23andme-research/global-genetics-project/">Global Genetics Project</a>, to name a few. And over the decade, we have built a research cohort that now is among the largest, if not the largest, cohort of African Americans (more than 500,000 people) with both genotypic and phenotypic information and who have consented to participate in research. Moreover, this large group of people with African ancestry who have consented to participate in 23andMe research offers our scientists the chance to study conditions relevant to the Black community.



Over the last year, we&#8217;ve undertaken several additional projects to improve the diversity of our research, doing research relevant to people within the Black Community, and enhancing the types of results we can return to customers with African ancestry.



<h6 class="wp-block-heading">Sickle Cell Anemia &amp; Sickle Cell Trait</h6>



Many of the projects we&#8217;ve been doing over the last year, and continue to be working on now, were only possible with all the effort we&#8217;ve made over the last decade to improve the diversity of our research participants. But, more importantly, customers of African descent who have consented to participate in 23andMe research have allowed us to study conditions important for the Black community.&nbsp;



One of those areas of study is sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene. People who carry just one copy of the HbS variant in the HBB gene have what&#8217;s called sickle cell trait. These carriers will not develop sickle cell anemia, because that requires having two copies of HbS. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait. Sickle cell anemia got its name because, in people with the condition, red blood cells become &#8220;sickled&#8221; or crescent-shaped in certain circumstances. Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America.&nbsp;



We&#8217;ve been focused on research, new product improvements, and efforts to raise awareness within the Black community about what it means to be a carrier of sickle cell anemia. We recently updated the 23andMe <a href="https://blog.23andme.com/articles/23andme-updates-carrier-status-report-on-sickle-cell-anemia">Sickle Cell Anemia Carrier Status report,</a>* which helps identify carriers who may not otherwise have known their status, as well as provide information about sickle cell anemia and what this report may mean for someone&#8217;s own health and the health of their children.



This comes on the heels of a collaboration with the non-profit <a href="https://blog.23andme.com/articles/sickle-cell-awareness">Breaking the SSickle Cell Cycle Foundation</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. About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia, but awareness of sickle cell anemia and how it&#8217;s inherited is often limited. We&#8217;re hoping to change that.



In addition, 23andMe researchers have also undertaken an important research collaboration with scientists at 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>. The study 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. There will be more to come with this work in the coming months.



<h6 class="wp-block-heading">Representation in Sarcoidosis Research</h6>



In 2022, we also launched a study into the genetic underpinning of sarcoidosis, a rare condition that disproportionately impacts people of African descent. African Americans develop the condition at <a href="https://pubmed.ncbi.nlm.nih.gov/27509154/">twice the rate</a> of those of European ancestry.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="844" height="754" src="http://35.88.189.111/wp-content/uploads/2022/11/sarcoidosis-logo.jpg" alt="" class="wp-image-30870" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo.jpg 844w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-300x268.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-768x686.jpg 768w" sizes="auto, (max-width: 844px) 100vw, 844px" /></figure>



Sarcoidosis is an inflammatory disease that results in the clumping of inflammatory cells in different organs. While it mainly affects the lungs, it can affect any organ in the body. Symptoms include fatigue, swollen lymph nodes, or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough, or chest pain. When it involves the heart, the condition may result in irregular heartbeat, accelerated heartbeat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision.



Currently, there is no cure and few approved treatments.



23andMe wants to change that, yet sarcoidosis is rare, making it particularly challenging to study. However, this is where 23andMe&#8217;s research model and our efforts to recruit within the Black community have proven uniquely suited. In the months since launching the study, we&#8217;ve been able to recruit individuals from across the United States.This has allowed many individuals who might not otherwise be able to participate in research to participate from home.&nbsp;



Just as with most other rare diseases, there is a strong genetic component to sarcoidosis, but many genetic variants associated with the condition have not yet been identified. Nevertheless, we&#8217;re well on our way to meeting our goal of enrolling 2,000 people with sarcoidosis to learn more about the disease&#8217;s genetics.



This research aims to improve the lives of people living with sarcoidosis through a potential treatment discovery.



<h6 class="wp-block-heading">What&#8217;s Next?</h6>



As 23andMe expands representation within our research cohort, we strive to better reflect the rich diversity of the U.S. and world. With continued participation, we hope to continue to share scientific and health insights and conduct research on diseases that have high rates in the Black community to equitably improve health outcomes.



<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 for the purpose of reporting 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 or anything about 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. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.

Latest Posts — Page 28