Scientists with 23andMe and Google have collaborated to develop an imputation reference panel using 23andMe’s <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project </a>to help expand diversity in genetic health research. This new reference panel enables researchers to more accurately identify associations between genetic variants and traits or health conditions within Black Americans and other non-European populations.
&#8220;This work will help address disparities in genetic research, as researchers outside of 23andMe will be able to use this data to inform their studies,&#8221; said Jared O&#8217;Connell, a 23andMe senior scientist and lead author for the paper. 
<h6>Expanding Analysis</h6>
All participating individuals were contacted and specifically consented to sharing their sequencing data via <a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001798.v2.p2">dbGaP</a> with qualified researchers.
An imputation reference panel consists of genome-wide variation discovered through whole-genome sequencing in a set of individuals. Researchers often use such reference panels to perform genotype imputation. Unlike whole-genome sequencing, genotyping microarrays look at hundreds of thousands of sites that are known to vary between individuals, not the entire genome. Hence, there are hundreds of millions of such sites that are not assayed by microarrays. 
Genotype imputation is the process of inferring genotypes at many of these missing sites. Much like a code breaker filling in missing letters in a message, scientists — using algorithms and data from a whole-genome sequenced reference panel — can predict, or impute, the missing letters of genetic data. This allows large-scale genetic studies to expand the number of genetic variants that can be analyzed. But currently, most publicly available reference panels only include people of European ancestry, which limits their applicability to other populations.
<h6>A Reference Panel for Research</h6>
In this effort, described in <a href="https://www.nature.com/articles/s42003-021-02777-9">“A population-specific reference panel for improved genotype imputation in African Americans”</a> published this month, the teams built an imputation reference panel with high levels of African ancestry. It is the first peer-reviewed publication derived from 23andMe’s <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project. </a> The panel includes genetic sequence data from more than 2,000 volunteers residing in the US, who identified as Black. With their consent, 23andMe created a reference dataset for research that consists of a de-identified reference panel and associated raw sequencing data. By including more individuals with non-European ancestry within the panel, imputation in non-Europeans is improved. For comparison, the commonly-used <a href="http://www.haplotype-reference-consortium.org/">Haplotype Reference Consortium</a> panel consists of 27,166 individuals which are predominantly of European descent. There is a subset of 2,001 individuals in that panel included from <a href="https://www.internationalgenome.org/">the 1000 Genomes Project</a>, and just 661 of these have substantial African ancestry.
&#8220;This biased reference panel composition generally leads to substantially poorer imputation quality for non-Europeans than for Europeans,&#8221; according to <a href="https://www.nature.com/articles/s42003-021-02777-9">the paper</a>. 
<h6>DeepVariant</h6>
Additionally, the team leveraged Google&#8217;s state-of-the-art variant caller, <a href="https://github.com/google/deepvariant">DeepVariant.</a> This allowed the researchers to further improve both the accuracy and richness of genetic variation in the reference panel. DeepVariant was compared with two versions of the popular GATK caller. It was shown to have a more accurate single sample calling performance as well as generate better performing imputation panels. Extensive comparisons of genotype refinement and phasing software were also conducted to establish a useful pipeline for creating imputation panels with DeepVariant. 
&#8220;The best practices for creating imputation panels we outline here are broadly applicable for improving imputation quality in non-European populations,&#8221; said senior author and Google staff software engineer Cory McLean.
This reference dataset was uploaded to the National Institute of Health&#8217;s dbGaP. It has already helped researchers studying conditions such as lymphoma, neurodegenerative disease, and cardiovascular disease. The reference dataset is also available to other qualified and vetted genetic scientists. It is meant to help expand research in Black Americans and other populations.
The team also published a blog post about the research <a href="https://healthcommunity.nature.com/posts/a-new-resource-for-african-american-genetics">here</a>.

23andMe Blog

23andMe Blog Team

Helping Expand Diversity in Genetic Health Research

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

Genetic Counselor Awareness Day, A Perspective

In genetics, pedigrees are essential for many more reasons than you might think.
It is not just about creating family trees or seeing how family members are related. Pedigrees are also helpful for studying diseases and understanding broader questions about family structure and how people marry and migrate. They can also be used to discover facts about long-dead ancestors, such as their phenotypic traits and where they came from.
<h2>A New Method Called Bonsai</h2>
Researchers at 23andMe recently created a new method for inferring large human pedigrees. The American Journal of Human Genetics published this new method, dubbed Bonsai, which uses a new algorithm to build very large pedigrees. These new methods can quickly and efficiently assemble small pedigrees into a larger family tree that shows degrees of separation between individuals.
<div id="attachment_29249" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29249" class="wp-image-29249 size-large" src="http://35.88.189.111/wp-content/uploads/2021/10/F1.large_-1024x434.jpg" alt="An illustration of some of what goes into the Bonsai method for creating very large human pedigrees." width="1024" height="434" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-1024x434.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-300x127.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-768x325.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-880x373.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-1180x500.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_.jpg 1280w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />An illustration of some of what goes into the Bonsai method for creating very large human pedigrees.</div>
These pedigrees can also help in studying the link between genetics and disease. Pedigrees can be helpful, especially when a disease is rare. In Genome-Wide Association Studies — a common method for discovering the genetic factors related to a common phenotype or disease — scientists must thin their sample to remove close relatives. Or they must leverage known relationships to increase the number of subjects that can be included, thus the statistical power for detecting associations. If full pedigrees are known, it opens the door for using a broader range of statistical methods. This, in turn, can be used to detect disease association and discover so-called de novo mutations that occurred for the first time in a family member.
<h2>Bridging Gaps</h2>
The ability to construct extensive pedigrees is also helpful for genealogy. In particular, the ability to use genetic data to infer pedigrees can help
<div id="attachment_29247" style="width: 228px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29247" class="wp-image-29247 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-218x300.jpg" alt="" width="218" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-218x300.jpg 218w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-768x1056.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-745x1024.jpg 745w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-640x880.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-858x1180.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-scaled.jpg 1862w" sizes="auto, (max-width: 218px) 100vw, 218px" />Ethan Jewett, Ph.D., a 23andMe population geneticist.</div>
bridge gaps in historical records and help detect places where the records may be inaccurate. Using the reverse rules of Mendelian inheritance makes it possible to assign present-day alleles to the ancestors from whom they came, thus revealing the genotypes carried by long-dead ancestors. When these alleles are associated with phenotypes or ancestry from a particular population, it&#8217;s possible to make educated guesses about the physical traits of ancestors. One could use the same method to find out where they came from.
23andMe’s new Bonsai method improves existing methods for building extensive pedigrees and opens up other possibilities, said Ethan Jewett, Ph. D., a 23andMe population geneticist working on probabilistic methods and lead author of the paper.
“Big pedigrees make it possible to explore questions about family structure,&#8221; Ethan said. &#8220;For instance, how common a certain type of relationship is in a given population, like double cousins.”
<h2>Large Pedigrees</h2>
Pedigrees inferred from DNA allow researchers to examine other issues. They could help determine how often a self-reported pedigree agrees with an inferred pedigree. In other words, they can tell us how well people know their family trees. The paper found several instances of self-reported family trees with at least one misidentified relationship.
There are other larger population-level insights researchers can learn from these large pedigrees. For example, the method allows researchers to determine the ancestry composition of the average pedigree in the United States, traced back several generations. Another example of the process could help answer questions like how often people have kids with people outside of their cultural or ancestral group. This work can also help improve our understanding of the age distributions for different types of relationships, such as parent-child, or grandparent-grandchild, or first cousins. That ultimately can help in 23andMe’s ability to predict relationships. Understanding those relationships can also offer insights into human history and disease.
This new method improves the efficiency and accuracy of building large and complex human pedigrees.
You can read more about the method <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(21)00349-9">here</a>.

A New Method for Creating Large Human Pedigrees

23andMe has been included in another “Best” list, this one for its leadership. 
In Inc. magazine’s first annual Best-Led Companies list, 23andMe was included after being evaluated on a 12-point measure of management excellence. The company was one of 250 on <a href="https://www.inc.com/best-led-companies/2021">the list</a> that honors both public and private U.S. companies with revenues that range from $50 million to $2 billion. In total the companies employ more than 35 million people or about one in four workers in the US. 
“This inaugural list of companies represents the remarkable mid-sized companies, both public and private, often founder-led, that are at the vanguard of reinventing American business,” says Scott Omelianuk, editor-in-chief of Inc. magazine. “With their leadership, all business will benefit from an exciting, competitive future full of possibilities.”
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1024x576.jpg" alt="" class="aligncenter wp-image-29267 size-large" width="1024" height="576" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1180x664.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
To be considered for the list, each company had to fill out an application answering questions about its performance, executive team, and leadership. Applicants were then analyzed via an algorithm that identified the very best companies according to their leadership teams’ superlative accomplishments in four key areas: performance and value creation; market penetration and customer engagement; talent; and leadership team.
To see the complete list, go <a href="https://www.inc.com/best-led-companies/2021">here</a>.
The honorees will be featured in the November issue of Inc. magazine, which is available online at<a href="https://www.inc.com/magazine"> https://www.inc.com/magazine</a> and will be on newsstands beginning November 9, 2021.
 
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23andMe Named in Inc.’s First-Annual Best-Led Companies

This week 23andMe made Fast Company’s first annual list of “Brands that Matter,” an award honoring companies and nonprofits with a mission or ideals that have had a cultural impact and are relevant and authentic.
This new award singles out <a href="https://www.fastcompany.com/brands-that-matter/2021">95 organizations </a>that, like 23andMe, have inspired people and given them compelling reasons to care about innovation, or social issues, cultural issues, the environment, or their fellow humans. Among those on the list are not just massive multinational conglomerates, but also small companies and nonprofits. All of them have forged an emotional or meaningful connection with people. All were judged on their relevancy, cultural impact, ingenuity, and business innovation. 
“Fast Company is excited to highlight companies and organizations that have built brands with deep meaning and connections to the customers they serve,” said Stephanie Mehta, editor-in-chief of Fast Company. “At a time when consumers are holding companies to very high standards, businesses have much to learn from these brands that have garnered respect and trust.”<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1024x538.jpg" alt="" class="aligncenter wp-image-29242 size-large" width="1024" height="538" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1024x538.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-300x158.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-768x403.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-880x462.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1180x620.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h6>Lead with Science</h6>
It’s that trust that is probably most important to 23andMe’s brand, said Tracy Keim, Vice President of Consumer Marketing and Brand at 23andMe. 
“It started with Anne Wojcicki, (23andMe’s CEO and Co-Founder),” Tracy said. “She co-founded 23andMe to help people — to be a brand that made a difference in people’s lives — we were a brand born out of purpose, not profit.” 
23andMe is also a brand driven by science. And Fast Company pointed to two of our more recent very large scientific initiatives in singling out 23andMe for this award. 
The first was a study using genetics to look at the human impact of the <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(20)30200-7">transatlantic slave trade</a>, as part of the largest study to date of people with African ancestry in the Americas. The second is an ongoing study on the genetics associated with differences among people in <a href="https://you.23andme.com/covid19-study/">susceptibility to and severity from COVID-19</a> that involved more than a million research participants. Several findings from that study have already been published or shared, and our researchers are currently investigating the genetics of COVID-19 “long-haulers.”
“It’s exciting to see this list of brands making a difference,” said Tracy. “We’re all interested in solutions through action, not just advertising. One of 23andMe’s core values is to ‘lead with science.’ DNA data can tell us so much about problems we confront today and in the future — whether it’s studying COVID-19 or our fraught racial history, or important health issues — our team of researchers have big hearts and open minds and go where the science leads them.”
<h6>Mission Driven</h6>
It’s been almost two decades since the mapping of the human genome, the most significant scientific breakthrough of our generation. 23andMe works to bring the power of genetic science to everyone. As a brand, 23andMe has always been mission-driven, focused on helping people access, understand, and benefit from the human genome. We created an industry offering people direct access to their genetic information, as well as an opportunity to participate in research if they choose. We share our research findings and ensure that those who participate in research know we’ve done it through solid science and innovation, but also with whimsy and a human touch. 
You can find a complete list of winners<a href="http://www.fastcompany.com/brands-that-matter/2021"> here</a>.
23andMe will be featured along with the other honorees in the November issue of Fast Company magazine, which is available online<a href="http://www.fastcompany.com/brands-that-matter/2021"> now</a> and will be on newsstands beginning November 2, 2021.
&nbsp;

23andMe Honored in Fast Company’s First Annual List of “Brands That Matter”

23andMe scientists recently shared some encouraging preliminary findings with participants in our Black Representation in Genomic Research study. The study is meant to help accelerate scientific discoveries and medical insights that directly benefit the Black community.
The scientists digging into the data believe these early findings offer encouraging signs that their work will indeed help alleviate some of the massive disparities in health and genetic research in non-European populations. The study itself is part of an on-going effort by 23andMe to improve diversity in research. That’s crucially important, according to speakers during the webinar.
“It’s knowledge that could help level the playing field,” said John Carpten, Ph.D., a Professor and Chair of Translational Genomics, as well as the Director of the Institute of Translational Genomics.
<h2>The Important of Diversity in Research</h2>
Professor Carpten was one of three outside scientists participating in the webinar. The other speakers included <a href="https://profiles.stanford.edu/carlos-bustamante">Carlos Bustamante</a>, Ph.D., a professor at Stanford University. He is an internationally recognized leader in applying data science and genomics technology to problems in medicine, agriculture, and biology. Also among the speakers was <a href="https://icahn.mssm.edu/profiles/eimear-kenny">Eimear Kenney</a>, Ph.D., the founding Director of the Institute for Genomic Health and Associate Professor of Medicine and Genetics at Mount Sinai. She leads research at the interface of genomics, medicine, and computer science.
They each noted the importance of diversifying genetic research and participation to ensure that all people, no matter their ethnicity, benefit from medical and scientific breakthroughs.
<h2>A Lack of Representation in Resarch</h2>
There is still much to be done, however. One <a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30231-4">estimate in 2018</a> found that 78 percent of genome-wide association studies contained data from people only of European descent. The lack of data from non-Europeans, especially those of African descent, leads to less effective treatments for members of the Black community. Over the last decade, 23andMe has taken steps to improve the diversity of our research. Whether through the<a href="https://www.23andme.com/roots/"> Roots into the Future Project</a>, the<a href="https://www.23andme.com/africa-project/"> African Genetics Project</a>, or<a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/"> African American Sequencing Project,</a> each project was meant to enhance the diversity in our research and our product.
23andMe’s Black Representation in Genomic Research is another step in that journey. It will offer a way to include underrepresented populations in crucial medical research so that they too can benefit from those breakthroughs.
<h2>The Black Representation in Genomic Research Study</h2>
As part of this study, 23andMe recruited more than 1,000 people with African ancestry who consented to participate in research. The median age of participants is 37. Most of those who participated were in New York, California, Texas, Georgia and Florida. In addition about 69 percent were women, and most of those who participated had West African ancestry. The study involved using whole-genome and RNA sequencing data to study gene expression in people with African ancestry. This kind of “functional data” is crucial for understanding the significance of genetic variants identified through genome-wide association studies that, in turn, can help in developing treatments for diseases.
Unfortunately, because of the lack of representation in current research, there is not much gene expression reference data for people of African ancestry. The Black Representation in Genomic Research study is an effort to change that. And ensure that the Black community can benefit from scientific discoveries and drug development. The anonymized data from this study will help not just 23andMe researchers but also other academic researchers through the National Institutes of Health’s dbGaP.
<h2>Sharing Preliminary Study Findings</h2>
The webinar held earlier this Fall was an effort to share with those participating in the research some of what our scientists have learned so far and to answer their questions.
<div id="attachment_29289" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29289" class="wp-image-29289 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-1024x576.jpg" alt="" width="1024" height="576" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BRGR-ASHG-Poster-Kipper-1180x664.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Kipper&#8217;s poster presented during  <a href="https://www.ashg.org/meetings/2021meeting/">American Society of Human Genetics,</a> showing some of the preliminary data from the BRGR study.</div>
23andMe computational biologist Kipper Fletez-Brant, Ph.D., one of the 23andMe scientists working on the study, also spoke during the webinar.
23andMe now has one of the largest genetic research datasets for people of African ancestry in the world. While we still need to improve representation in our research data, that large dataset allows 23andMe to bring new insight into research specific to people of African ancestry.
The effort is important for a number of reasons, and Kipper gave the example of how different conditions — certain cancers, diabetes, and asthma, for example — impact people of African ancestry differently. Some of those differences are due to environmental and social differences but genetics may also play a role, Kipper said. In addition, certain medications may also be more or less effective in people of African ancestry because of those differences. He said that studies like the Black Representation in Genomic Research that look at functional data will help better understand those differences.
A description of the BRGR study will also be presented at the upcoming annual meeting of the <a href="https://www.ashg.org/meetings/2021meeting/">American Society of Human Genetics</a>.

Black Representation in Genomic Research Study

Dear 23andMe Community,
Today is an exciting day in the development of our mission to help people access, understand and benefit from the human genome. We are thrilled to announce that we are taking another step in making personalized healthcare a reality by agreeing to acquire <a href="https://www.lemonaidhealth.com/">Lemonaid Health</a>.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-1024x536.png" alt="" class="aligncenter wp-image-29234 size-large" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/10/1200x628-LH-23-Banner-1.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Over the years we have asked you, our customers, what more do you want from 23andMe. We heard from many of you that the genetic information you got from 23andMe can change your life — but when you take it to a physician you may meet skepticism or uncertainty about what to do with the information. We want to change that.   
We are acquiring Lemonaid Health so that we can bring true personalized healthcare to 23andMe customers. Personalized healthcare means healthcare that is based on the combination of your genes, your environment, and your lifestyle — with recommendations and plans that are specific to you.
Lemonaid Health is a pioneer in telemedicine and digital pharmacy. In Lemonaid Health we found a team of passionate, patient-obsessed people who want to bring better healthcare to everyone in an affordable, accessible way. Lemonaid Health’s focus on the patient and its philosophy of delivering individualized care fits perfectly with our mission of empowering people to take control of their health.
Twenty years ago Francis Collins, then the Director of National Institutes of Health, said, “Genome science will &#8230;revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.” With healthcare still being one size fits all, we believe 23andMe will be the leader in using the incredible potential of genetics to enhance every individual’s primary care experience. We want to make that a reality for you — in an affordable, accessible, and meaningful way.
Here’s to being healthy at 100!
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg" alt="" class="aligncenter wp-image-23161 size-full" width="318" height="133" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent.jpg 318w, https://blogcms.23andme.com/wp-content/uploads/2015/10/sig_small_transparent-300x125.jpg 300w" sizes="auto, (max-width: 318px) 100vw, 318px" />

A Letter from Anne: Making Personalized Healthcare a Reality

Most of us have felt the embarrassment of having an unsightly pimple at the worst possible time, but the impact can be more than just temporary mortification for those with severe acne and instead leave both literal and psychological scars.
About 85 percent of Americans have had acne, and it is estimated that less than 20 percent have experienced moderate to severe acne. While new treatments can help manage the condition and prevent scarring, there remains a lot of misinformation about the causes and best ways to deal with this common skin condition.
A new 23andMe+ Premium report Powered by 23andMe Research looks at a person&#8217;s likelihood of developing severe acne and provides information about some of the causes, and some of the ways to reduce the frequency and severity of breakouts. The new report uses machine learning techniques to estimate a person&#8217;s likelihood of having severe acne. To make that estimate, we use a statistical model that looks at more than 8,500 genetic variants as well as a person&#8217;s ethnicity and sex. 
Although it is most common during puberty, acne affects people of all ages. It occurs when hair follicles in the skin become clogged with oil, bacteria, and dead skin cells, which in turn can lead to many deep and painful types of pimples along with many whiteheads and blackheads. To help reduce the frequency and severity of breakouts, experts recommend using gentle skin cleansers, avoiding aggressive scrubbing, and avoiding touching and picking areas prone to acne. Severe acne can be persistent and lead to scarring, especially without proper treatment, which usually includes prescription medication.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="808" height="318" src="https://blogcms.23andme.com/wp-content/uploads/2021/10/image-18.png" alt="" class="wp-image-29207" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/image-18.png 808w, https://blogcms.23andme.com/wp-content/uploads/2021/10/image-18-300x118.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/image-18-768x302.png 768w" sizes="auto, (max-width: 808px) 100vw, 808px" /></figure>
 
<h6>Severe Acne</h6>
Severe acne often extends deeper into the skin than a mere breakout and can last a lot longer. In these cases, the acne may consist of cysts or nodules that are painful. In addition, after severe acne heals, scars can form. Enlarged and raised scars, called keloids, are more common in people with darker skin. In addition, severe acne may change the color of the skin.  It is often associated with changes in hormone levels caused by menstruation, or high levels of androgen hormones, for instance.
While genetics plays a role, other factors such as age and family history can increase the chances of developing acne. Some conditions that are also associated with changes in hormone levels, like polycystic ovary syndrome or congenital adrenal hyperplasia, can also increase the chances of developing severe acne. Certain medications also can play a role.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="774" height="340" src="https://blogcms.23andme.com/wp-content/uploads/2021/10/image-17.png" alt="" class="wp-image-29206" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/image-17.png 774w, https://blogcms.23andme.com/wp-content/uploads/2021/10/image-17-300x132.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/image-17-768x337.png 768w" sizes="auto, (max-width: 774px) 100vw, 774px" /></figure>
 
<h6>Taking Action</h6>
Understanding more about the genetic and non-genetic factors that may influence your likelihood of having severe acne can help in understanding how to help reduce the frequency and severity of breakouts. Remember to talk with your healthcare provider before making any significant lifestyle changes.
23andMe&#8217;s new Severe Acne report (Powered by 23andMe Research) is available to all 23andMe+ Premium members. To learn more about your report, go <a href="https://you.23andme.com/reports/prs.severe_acne/">here</a>.
Not yet a 23andMe+ Premium member? Find out more <a href="https://www.23andme.com/membership">here</a>.
<hr />
*The 23andMe Severe Acne report is based on 23andMe research and incorporates more than 8,500 genetic variants to provide information on the likelihood of having severe acne. The report does not account for lifestyle or family history and has not been reviewed by the US Food and Drug Administration.

New 23andMe+ Premium Report on Severe Acne

Editor&#8217;s note:  It&#8217;s National Liver Awareness Month we&#8217;re reposting this post with Wayne Eskridge to raise awareness about nonalcoholic fatty liver disease. 
Wayne Eskridge says he’s “just a typical American guy,” but that doesn’t begin to describe him really.
It’s true that, like a lot of Americans, Wayne loves red meat and potatoes. And like a lot of people, as he aged, he put on a pound or two each year until he was overweight. And like a lot of Americans, not just men, Wayne was told over and over during doctors’ visits that he should exercise more and watch what he ate. Over the years, he did diet and lose weight. But he gained it back. In that way, he was just like a “typical American guy.”
But something changed for him a few years ago that sets Wayne apart. 
“We’ve all heard these things endlessly, ‘lose weight and exercise’, and yet we don’t change our ways,” he said. “But if you can capture a person’s attention and emotional commitment to an idea at the right time, and with the right message, you can precipitate lasting change.”
&nbsp;

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<h6></h6>
<h6>An Unknown Risk</h6>
That’s what happened for Wayne, and he’s spent the last several years trying to help others to do the same.
He recently sat down with us at 23andMe to talk about his journey from an average American guy to a man who started a foundation to save others like him and help them on a path to better health.
The CEO and founder of the <a href="https://www.fattyliverfoundation.org/">Fatty Liver Foundation</a>, Wayne wants to raise awareness about a life-threatening condition that few people know anything about: nonalcoholic fatty liver disease. But he also wants to help people more broadly make health changes, and he’s willing to use his own story to help.
Tens of millions of people are walking around with fatty liver disease and don’t even know it. It’s one of the many potential consequences of being overweight. According to the <a href="https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash/definition-facts">NIH&#8217;s National Institute of Diabetes and Digestive and Kidney Diseases</a>, it’s estimated that about 24 percent of American adults have the condition. Wayne was once like millions of others, walking around with a condition he didn’t know anything about. He wants to change that by raising awareness not only about fatty liver disease but also about the benefits of adopting healthy habits.
<h6>Healthy Changes</h6>
Lifestyle really is key. While genetics do play a role in the likelihood of developing fatty liver disease, lifestyle is very important. As part of our 23andMe+ membership, we have a report powered by our own research on nonalcoholic fatty liver disease. It looks at more than 1,400 genetic variants to estimate a person’s likelihood of developing the condition. But beyond genetics, lifestyle and diet play a big role in one’s likelihood in developing the disease. Wayne wants to raise awareness about all the factors that could lead to risks for the condition and push for more research.
Similar to other chronic conditions like type 2 diabetes, high blood pressure, and other various cardiovascular diseases, the number of people with nonalcoholic fatty liver disease has grown as the rates of obesity have risen. So many people are overweight that it’s been normalized, Wayne said.
“It’s as if it’s a non-event and there’s been this generational drift to accept less wellness,” he said.
In his own experience, he thinks back to long before his diagnosis, when his blood pressure was creeping up and his weight edged up, and he asked his doctor about it.
“And he said, ‘all my patients are dealing with this. It’s just how we are,’” Wayne recalls.
<h6>Taking Charge</h6>
For Wayne, it was a missed opportunity for the doctor to impress on him the importance of taking charge of his health.
“I may not have listened but he let that opportunity slide,” Wayne said.
Here are some sobering statistics. In the last two decades, the percentage of the American population who are obese went from about <a href="https://www.cdc.gov/obesity/data/adult.html">30 percent to more than 40 percent</a>, according to the Centers for Disease Control (CDC) and Prevention. Even among children, there’s been an uptick in obesity. In 1980 only about five percent of kids were considered obese, but by 2018 <a href="https://www.cdc.gov/nchs/fastats/obesity-overweight.htm">more than 19 percent were</a>, according to the CDC. And there is a cascade of chronic health issues that stem directly from that increase in obesity. Wayne’s focus has been on one of those conditions. And he started the <a href="https://www.fattyliverfoundation.org/">Fatty Liver Foundation</a> to raise awareness about this condition that affects so many people but remains largely unknown.
“If you have two friends, one of you likely has fatty liver disease, and don’t even know it,” said Wayne. “It’s that bad, there’s this whole suite of metabolic diseases — heart disease, diabetes, high blood pressure — that are all related to what’s happening in our society with the obesity epidemic.”
<h6>An Ah-Ha Moment</h6>
Wayne’s knowledge about fatty liver disease and other chronic metabolic conditions comes from the experience of years of trying to figure out what was going on with his own health. Ten years ago, Wayne didn’t know anything about fatty liver disease.
“I’d had my gallbladder removed and, after the procedure, the doctors showed me a photo of my liver,” he said.
The surgeon told him it appeared that he had stage four liver cirrhosis. If true that would be a bleak diagnosis with little that can be done. It turned out that Wayne didn’t have liver cirrhosis, but that encounter began a difficult five-year-long medical journey before being diagnosed with fatty liver disease, or more accurately cirrhotic nonalcoholic steatohepatitis (NASH) due to the build-up of fat in his liver, causing inflammation and liver damage.
That was Wayne’s ah-ha moment. That’s when he changed.
In going through all the challenges leading up to his diagnosis, Wayne and his wife had become much more aware of the true impact of diet and lifestyle on health. It’s as if it took that long, arduous journey for them to be receptive to the message he got when he was diagnosed. There really was no other way.
“I was determined to do everything I could to defeat the liver beast,” Wayne said. 
<h6>Helping Others</h6>
He and his wife went home and cleared out the pantry. They looked at the changes not as a diet but as a whole shift in how they lived, creating a healthy food strategy, passing on sugary desserts, processed foods, and juicy steaks. The shift paid off and he lost 45 pounds. He said the biggest accomplishment was going in for a liver biopsy and learning that his condition wasn’t progressing.
“My wife and I celebrated by eating a salad,” he said. 
Since then, Wayne has worked very hard to help others either dealing with a later-stage liver disease diagnosis, but also trying to prevent others from getting to a point of no return. The mission of the foundation is pretty stark. 
“We want to help you avoid this kind of death by helping you understand how you may be killing yourself slowly &#8212; and, what you can do about it. If you are already ill, we will do our best to help you with that process.”
According to the Fatty Liver Foundation:
<ul>
<li> 100 million Americans have a fatty liver, and the vast majority of them have no idea.</li>
<li> 20 million of them will develop nonalcoholic fatty liver disease.</li>
<li> 5 million will develop liver cirrhosis or NASH, which can end in liver failure. </li>
</ul>
<h6>Teachable Moments</h6>
In his work trying to make a dent in those stats, Wayne has used his own experience of seeing an image of his swollen liver. That’s what helped him internalize the message about how important his day-to-day lifestyle and diet had been to his health. The vision of his ailing liver was that of a “deadly beast” that was trying to kill him. Seeing it made him determined to do what he could to stop that from happening. 
He used that experience to inspire a recent study done by the foundation in Houston. There they did liver scans of patients, and showed them the condition of their own liver, and found that it did indeed register with patients who began making healthy changes to their diet.
That’s a message that goes beyond people at risk for fatty liver disease, and Wayne knows it. Fatty liver disease and being overweight can raise the risk of developing type 2 diabetes and heart disease. It can also progress to even more severe conditions. He wants to help people prevent that.
“It really comes down to how to motivate people to make a change,” Wayne said. “We’re looking for those teachable moments because we’ve all heard these messages endlessly about diet and exercise.”
<h6>Lasting Change</h6>
Food is about more than just nutrition and sustenance for so many of us. There are emotional and psychological components to what we eat and when we eat it. In a book about his own struggles to lose weight, the writer Tommy Tomlinson said that telling someone who is overweight to “eat less and exercise is like telling a boxer don’t get hit. You act as if there’s not an opponent.”
Food carries with it memories, for some, it becomes a reward or a reminder. Wayne knows that from personal experience. It’s why he and his wife had a tradition of celebrating big occasions with a chocolate volcano cake. They don’t do that anymore.
“It is so hard to change, but if you can capture a person’s attention and emotional commitment to an idea you can help them with lasting change,” he said.
For more information about the Fatty Liver Foundation visit their website <a href="https://www.fattyliverfoundation.org/">here</a>. You can find your 23andMe+ Nonalcoholic Liver Disease report (Powered by 23andMe Research) <a href="https://you.23andme.com/reports/prs.nafld/">here</a>.* Not yet at 23andMe+ member? Find out more <a href="https://www.23andme.com/membership">here</a>.

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