By Elliot Aguilar, Ph.D.*
For nearly all its existence, America has not only been a multiracial nation but a nation of mixed-race people.
The truth is rarely acknowledged despite the evidence being easy to find. In the nineteenth century, famed antebellum diarist Mary Chesnut remarked on the mixed-race children in “everybody’s household.” At the same time, her contemporary, Fanny Kemble, made a note of some enslaved children who bore a striking resemblance to the white overseer of her husband’s plantation. From 1850 to 1920, the category of “Mulatto” appeared in multiple US Censuses.
And there are many other examples, from old newspaper advertisements for ‘bright mulatto’ runaway slaves to popular songs like The Yellow Rose of Texas, that celebrate the pivotal role of a mixed-race woman in the fight for Texan independence. Each is a testament to the truth of our country’s history.
<img loading="lazy" decoding="async" class="alignright wp-image-28805 size-medium" src="http://35.88.189.111/wp-content/uploads/2021/03/Diary-Feature-Image-Wide-300x137.png" alt="" width="300" height="137" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/Diary-Feature-Image-Wide-300x137.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Diary-Feature-Image-Wide.png 395w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h2>History is Personal</h2>
While the historical evidence can tell us that racial mixing happened, the advent of DNA testing from 23andMe and other companies has helped to bring to light America’s complicated racial history on an individual level. The science of population genetics now allows us to quantify—and appreciate—the scale of past mixing and its effect on the ancestry of contemporary Americans.
My own family&#8217;s recent origins are in Central and South America where racial mixing is a more openly acknowledged fact of our history.  As a population biologist and a first-generation American, I am fascinated by how science can teach all Americans about our shared, intertwined history.
However, this history will come as no surprise to many African Americans, whose family lore often retains the memory of interracial unions, as well as the often traumatic circumstances that gave rise to them. Even then, science is illuminating and validating those family histories. As poet Caroline Randall Williams, the author of the acclaimed NYT op-ed, My Body is a Confederate Monument, has put it, “the science has made it easier to…claim and reframe” those family traditions.
<h2>DNA Reveals</h2>
A 2015 study by 23andMe senior scientist and population geneticist Kasia Bryc and colleagues in the <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(14)00476-5">American Journal of Human Genetics</a> found that, on average, self-reported African Americans in a dataset of 23andMe customers had about a quarter European ancestry.  <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006059">Another study </a>— this one by researchers at McGill University published two years later — showed a lower, but still very significant average level of European ancestry, about 17 percent.
But both studies vividly illustrated not just the historical intermixing of people of African, European, and Native American ancestry, but also the regional differences of that mixing within the United States. Both studies also found a measurable number of self-identified European Americans had one percent or more African ancestry. Though far lower than the European contribution to African American genomes, these findings show that the direction of genes flowing between the groups was not exclusively one-way.
Another telling finding in both of these studies is that African Americans’ European ancestry was more often than not traceable to Northern Europe, the source of most early European settlers in colonial America. This finding points to intermixing from our nation’s earliest history.  It is also a testament to the centuries-long residence of African Americans in this country, stretching back long before the founding in 1776.
<h6>What that Means</h6>
The levels of European ancestry among African Americans can give us some idea of how often interracial unions — whether forced, coerced, or consensual — occurred. Using estimates from computer simulations of African American population history by anthropologist Jessica Gross based on g<a href="https://www.23andme.com/dna-ancestry">enetic data and historical records</a>, I calculated that an African American, randomly selected from any point in American history, had a nearly 17 percent chance of having at least one white grandparent.
<div id="attachment_28800" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28800" class="wp-image-28800 size-medium" src="http://35.88.189.111/wp-content/uploads/2021/03/Elliot-A-225x300.jpg" alt="A photo of the writer Elliot Aguilar." width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/Elliot-A-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Elliot-A-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Elliot-A-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Elliot-A-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Elliot-A-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" />Elliot Aguilar, PhD</div>
Put another way, if you could travel to any time between 1619 and today and poll an African American person randomly, there would be a one in six chance that he or she had at least one white grandparent. And this number is likely an underestimate as Gross’s models assumed that the European contribution per generation to the African American gene pool has been constant throughout American history. It was likely significantly higher during the time of slavery when some Americans held total dominion over the bodies of others.
<h2>Out of Many, One</h2>
The findings from these studies, and the results of individual genetic ancestry tests, undermine the long-held binary classifications of black and white.  This notion is the legacy of the so-called ‘one-drop rule,’ by which a person with a single known ancestor of African descent was considered black. This rule had its earliest origins in colonial-era legislation, but it wasn’t until the Jim Crow era that it became a fixed legal and social reality. The fact that race has been assigned according to laws and social definitions, as opposed to one’s actual ancestry, underlines the fact that race is a social construct and not a biological reality.
Ever since the 2000 US census allowed Americans to select multiple races, a lot of articles have been written about the increase of the country’s mixed-race population.  As the evidence above demonstrates, we have always been a nation with a sizable mixed-race population. What is new is that Americans can now claim their multiple ancestries without shame or discrimination.
America has endured centuries of social division based on race, despite our shared genetic ties. The challenge of our future is to make our famous motto ‘E Pluribus Unum’— out of many one — a social reality, just as it has been a genetic reality all along.
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*This post comes to us from a friend of 23andMe. Elliot is a scientific advisor for the Africa Center in New York City. He has an undergraduate degree in physics from Harvard and a Ph.D. in Evolutionary Biology from City University of New York. He did post-graduate work in mathematical biology at the University of Pennsylvania. Elliot’s day job is as a data scientist with an e-commerce company.

23andMe Blog

23andMe Blog Team

DNA Reveals America’s Mixed-Race History

By Christophe Tchakouté, 23andMe Biostatistician
The number of weekly asthma attacks among people in the U.S. with active asthma increased by 10 percent in 2020 compared to the year before, according to new research data from 23andMe.
Our scientists wanted to explore why, and better understand whether these increases in asthma attacks, known as asthma exacerbations, were influenced by geography, mental health variables, or some other factors like the unprecedented number of wildfires in the western U.S. in 2020.
Asthma, which impacts more than 25 million Americans and about 330 million people worldwide, is a chronic disease of the lungs that causes inflammation and narrowing of air pathways. Asthma attacks lead to shortness of breath, coughing, wheezing, and chest tightening. These attacks can be triggered by environmental factors, such as pollution, or smoke, or stress and anxiety. The most severe attacks can lead to hospitalization. Asthma is also an underlying risk factor for more <a href="https://you.23andme.com/covid19/">severe symptoms from COVID-19</a>.
Last year offered the worst combination of factors that could trigger attacks among those with asthma, including massive wildfires on the West Coast, as well as economic uncertainty and stress from the COVID-19 pandemic. But understanding what contributed to last year’s increase in asthma attacks is not so simple. For one, collecting longitudinal data on asthma is challenging and there is a scarcity of data looking at asthma attacks in 2020.
<div id="attachment_32494" style="width: 761px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-32494" class="wp-image-32494 size-full" src="http://35.88.189.111/wp-content/uploads/2021/03/Figure-1-Wildfires.jpg" alt="" width="751" height="504" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-1-Wildfires.jpg 751w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-1-Wildfires-300x201.jpg 300w" sizes="auto, (max-width: 751px) 100vw, 751px" />Figure 1: Year-over-year comparison of asthma attacks.</div>
In looking at 23andMe research data, collected from customers in the United States with asthma who consented to participate in research, even after controlling for known exacerbation risk factors such as obesity, area of residence, and sex (women are at higher risk for asthma), our researchers still saw a year over year increase in asthma attacks. (see Figure 1).
The increase also surprised our researchers, who anticipated that the shelter-in-place orders enacted in March 2020 would decrease pollution and subsequently result in a decrease in asthma exacerbations. However, this explanation is unlikely since springtime asthma exacerbations were higher in 2020 compared to 2019 and followed similar seasonal trends as in 2019 due to allergies (see Figure 1). Such seasonal fluctuations occur because the <a href="https://www.cdc.gov/climateandhealth/effects/allergen.htm">increase of pollen</a> due to changes in the weather can trigger asthma symptoms.
<div id="attachment_32496" style="width: 761px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-32496" class="wp-image-32496 size-full" src="http://35.88.189.111/wp-content/uploads/2021/03/Figure-2-Wildfires.jpg" alt="" width="751" height="504" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-2-Wildfires.jpg 751w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-2-Wildfires-300x201.jpg 300w" sizes="auto, (max-width: 751px) 100vw, 751px" />Figure 2: Asthma exacerbations across different US regions</div>
23andMe researchers’ analysis also compared monthly asthma exacerbations from 2019 to 2020 across the four main regions of the United States: the South, the West, the Northeast, and North Central. They did not observe substantial differences in monthly asthma exacerbations across regions for 2019 and early 2020 (See Figure 2). 
However, from the end of the summer of 2020 to the beginning of the fall of 2020, researchers observed a steep increase in asthma exacerbations on the West Coast (See Figure 2).  This timeline overlaps with the <a href="https://www.nytimes.com/interactive/2020/us/fires-map-tracker.html">western wildfires</a> that resulted in severe air pollution over multiple weeks on the West Coast. According to one estimate by Cal Fire, the 2020 California wildfires pumped a record of more than 115 million metric tons of CO2 into the air, or more than eight times the annual average.
Initially, 23andMe was also interested in exploring how anxiety changed monthly from 2019 to 2020. However, none of the anxiety-related longitudinal surveys in the 23andMe research data could be used to address this specific question. Instead, researchers compared monthly self-reported asthma exacerbations from 2019 to 2020 among research participants with active asthma and generalized anxiety disorder and those with active asthma and no generalized anxiety disorder (see figure 3). The team found that asthma exacerbations increased from 2019 to 2020 in both groups. On average, customers with a generalized anxiety disorder had 62 percent higher levels of asthma exacerbations when compared with those with no generalized anxiety disorder (see figure 3) after adjusting for other important variables.
<div id="attachment_32497" style="width: 761px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-32497" class="wp-image-32497 size-full" src="http://35.88.189.111/wp-content/uploads/2021/03/Figure-3-Wildfires.jpg" alt="" width="751" height="504" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-3-Wildfires.jpg 751w, https://blogcms.23andme.com/wp-content/uploads/2021/03/Figure-3-Wildfires-300x201.jpg 300w" sizes="auto, (max-width: 751px) 100vw, 751px" />Figure 3: Asthma exacerbations and generalized anxiety disorder</div>
This small sample analysis highlighted an increase in asthma exacerbations in 2020. Although it was not possible to track how anxiety changed from 2019 to 2020, this analysis demonstrated that research participants with a generalized anxiety disorder had high levels of asthma exacerbations in 2020.
In addition, a strong association between the western wildfires and a spike in asthma exacerbations was observed in 23andMe research data. This is consistent with <a href="https://www.med.ubc.ca/news/wildfire-smoke-has-immediate-harmful-health-effects/">previous evidence</a> shedding light on the link between proximity to wildfires and chronic lung disease exacerbation.
Given that asthma exacerbation can lead to severe hospitalizations as well as worsen COVID-19 disease prognosis, special consideration should be given to this population.
This small analysis highlights how 23andMe research data can be leveraged to gain rapid insights into how naturally occurring events can affect the health of a specific subpopulation.
23andMe Customers who have consented to participate in research and who wish to contribute to our asthma survey can do so <a href="https://you.23andme.com/research/surveys/asthma_update_0/">here</a>. Not yet a customer? Find out more about our service <a href="https://www.23andme.com/compare-dna-tests/?sub=ver2&amp;cabt=nao">here</a> or you can learn about some of our published research <a href="https://www.23andme.com/publications/">here</a>.

Western Wildfires Increased Asthma Attacks in 2020   

As part of 23andMe’s ongoing effort to improve diversity in biomedical research, we recently began work on our Black Representation in Genetic Research study. This study aims to understand the biology connecting genetic variants to diseases.
To support the study, 23andMe recruited just under 1,000 customers with African ancestry who consented to participate in the study. The project, supported with funding from GlaxoSmithKline (GSK), involves the sequencing of RNA and DNA to study the genetics of gene expression. These data are crucial for understanding the role of genetic variants identified through genome-wide association studies (GWAS) and how they may influence disease through changes in gene expression.
This effort is one of several 23andMe has undertaken over the last decade to help remedy research inequities. Currently, the 23andMe database includes one of the largest groups of people with African ancestry who have consented to participate in genetic research. Yet, there is still much work to be done. While the number of people of African descent participating in our research is large, it still pales in comparison to the numbers of people of European ancestry.
With more people of African ancestry participating in research our scientists will have more opportunities to find genetic associations relevant to this group and to translate genetic associations into insights meaningful to support the development of new therapies. In this case, RNA sequencing data from under-represented populations could help us connect or “map” a genetic variant that is associated with a disease to how that variant may or may not be relevant for the expression of a particular gene.
<h6>Everyone Should Benefit from Genetic Research</h6>
Part of 23andMe’s mission is to ensure that everyone — no matter their ethnicity — benefits from the insights derived from the human genome. We’re committed to that goal.
But it’s a fact that the Black community is dramatically underrepresented in <a href="https://www.23andme.com/dna-health-ancestry">genetic health</a> research, meaning they don’t equally benefit from insights gleaned from that work. That’s not acceptable to us.
We hope that improving diversity in our research and clinical trials will help accelerate scientific discoveries and medical treatments that have been informed by a more thorough understanding of diseases experienced by the Black community.
The Black Representation in Genetic Research (BRGR) program is another step we’re taking to address this problem.
<h6>Sequencing</h6>
For this study, 23andMe is extracting RNA from whole blood and sequencing it. We will also sequence consented study participants’ whole genomes using the saliva samples they originally submitted to 23andMe.
We’ll use this data to better understand “gene expression” — how a gene turns on or off and guides the translation of RNA into proteins. This kind of “functional data” will help scientists understand the connection between a variant identified in a GWAS and one of its nearby genes. Making that kind of connection is called “variant-to-gene mapping.” 
<h6>More Diverse Representation</h6>
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, even for health conditions that disproportionally impact non-European populations. Sometimes the results from a genome-wide association study are relevant to all ethnicities, but not always. In those cases, researchers need to have more diverse data that are more broadly useful for people of all ethnicities.
That’s why over the last decade, 23andMe has taken steps to improve the diversity of our research. Whether it was through the<a href="https://www.23andme.com/roots/"> Roots into the Future Project</a>, or 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> <a href="https://www.23andme.com/global-genetics/">the Global Genetics Project</a>, as well as the <a href="https://research.23andme.com/populations-collaborations/">Populations Research Collaborations</a> program —  each project was meant to enhance the diversity in our research and our product.
<h6>Beyond 23andMe</h6>
This work has in turn helped not only to improve the diversity of our research but also the work of others.
The whole-genome sequence data from those who consented to participate in our African American Sequencing project — aggregated and de-identified — was made available for free to qualified researchers from academia or biotech labs through the Database of Genotype and Phenotypes (<a href="https://www.ncbi.nlm.nih.gov/gap/">dbGaP</a>). This is a repository sponsored by the <a href="https://www.nih.gov/">National Institutes of Health (NIH)</a>. The NIH’s dbGaP archives and distributes data from studies investigating the relationship of genotype and phenotype in humans.
In that same way, 23andMe will make available the RNA and whole-genome sequencing data from the Black Representation in Genetic Research — aggregated and de-identified — to qualified researchers, again using the NIH’s dbGaP.
By sharing the data with the broader biomedical community, 23andMe hopes to encourage others to work toward making significant discoveries that will benefit the Black community.
<h6>A Little History</h6>
We can’t talk about the lack of representation in genetic health research without talking about history, even when that history is unjust.
The effort to become more inclusive in genetic health research must overcome understandable distrust from communities that have in the past been abused in the name of science.
There are many examples but one of the most infamous and shameful was the<a href="https://www.cdc.gov/tuskegee/timeline.htm"> Tuskegee Syphilis Study</a>, which involved a 40-year study of African-American men with syphilis who were left untreated for their illness as a way to research the progression of the disease. Researchers never informed participants of what was happening, and never gave them an antibiotic that could have been used to treat them.
<h6>The Common Rule</h6>
Once the shocking mistreatment came to light federal regulators and ethicists came together to create what has become the foundation for ethics in research on humans. Known as “<a href="https://www.hhs.gov/ohrp/regulations-and-policy/regulations/common-rule/index.html">The Common Rule</a>,” the rules were codified for the protection of participants in biomedical research. Some of the core principles include voluntary informed consent, protection for potentially vulnerable populations, and protecting those research participants from harm.
That work also led to the creation of what are called Institutional Review Boards (IRBs), independent bodies that oversee research to ensure it adheres to ethical principles.
<h6>23andMe’s Ethical Approach to Research</h6>
Choice and transparency are fundamental to 23andMe’s research model, and our research program is overseen by an external IRB.
This represents a long-term commitment by 23andMe. Before we ever launched our participant-based research program, we worked early on with the Ethical, Legal, and Social Implications (ELSI) program of the <a href="https://www.genome.gov/">National Human Genome Research Institute </a>(NHGRI), which had been founded in 1990 as part of the Human Genome Project.
The ELSI program was created to identify and address issues that genomics research could trigger with regard to impacting people, families, and society. 23andMe scientists engaged with this community early on, which helped us understand the importance of building strong ethical guidelines and demonstrating our scientific rigor.
In 2009, to ensure we had third-party ethical oversight of our research, we approached an external ethics committee (also called an Institutional Review Board, or “IRB”) and worked together to create an entirely new model of research that both respects and protects our research participants as well as ensure that we have a clear and transparent informed consent for research participation. And we’ve now published over 170 peer-reviewed research papers that have been cited over 10,000 times. This ethics-driven approach has been behind our decision-making over the years.
As a part of our approach, we also work to share with those who participate in research any findings we make. In fact, we aim to make all of our publications accessible to anyone interested at no cost. For the BRGR study, we expect to be finished with the data analysis by this summer at which time we plan to share those findings with participants during a webinar.
The ultimate goal is to create a resource for scientists to better identify unique genetic determinants of disease and develop treatments to benefit the Black community.

23andMe’s Black Representation in Genetic Research Study

February marks a time to remember and celebrate people of the African diaspora. To kick off a Black History Month of reflection, we’d like to highlight some of the projects 23andMe has been working on to specifically address disparities in biomedical and genetic research for people of African ancestry.
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 important genetic variants associated with diseases. Those associations would have been missed in studies that focus only on one homogenous group.
<h6>We Need to Do Better</h6>
Despite this, as of 2019, <a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30231-4">only two percent of participants in genome-wide association studies</a> around the world were people of African ancestry. Additionally, <a href="https://www.23andme.com/dna-health-ancestry">genetic risk prediction</a> scores, which will be instrumental in the future of personalized medicine, need to take ancestry into account. A risk score developed for one population may not be as accurate for another, exacerbating already existing health disparities for African Americans.
But it’s not enough for us to wait for others to fix the problem. As our <a href="https://www.23andme.com/black-lives-matter">CEO Anne Wojcicki stated last June</a>, “We absolutely have the potential to be better. Despite our efforts, I have to honestly say that we are also part of the problem.”
<h6>Some History</h6>
Over the years, we have made an effort to ensure our product and research are relevant to those of African ancestry. Here is a snapshot of our progress over the last decade:
2011: We launched our <a href="https://www.23andme.com/roots/">Roots into the Future</a> project to recruit 10,000 African Americans to participate in research.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9427" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo.png 1050w" sizes="auto, (max-width: 300px) 100vw, 300px" />
2013: We launched our first African Ancestry Project, which recruited people with four grandparents from Sub-Saharan Africa.
2014: With this additional data from people of African ancestry, we published <a href="http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900476-5">the first large-scale study of genetic ancestry in the United States</a> that reflects historical migrations.
2015: Using external research, we launched our Health service with a report for sickle cell anemia and a report for beta-thalassemia and related hemoglobinopathies, among others. Both of these conditions are highly relevant for people with African ancestry.
2016: We reached the milestone of 45,000 African Americans participating in 23andMe research.
2016: We <a href="https://blog.23andme.com/articles/23andme-scientists-improving-diversity-in-genetic-research/">received a National Institutes of Health (NIH) grant</a> to help us develop a new analysis pipeline that may alleviate disparities in research.
2016: We launched the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, further recruiting individuals with ancestry from one of 16 African countries, expanding our recruitment outside of Sub-Saharan African ancestry.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25259" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3.jpg 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />
2016: We launched the <a href="https://blog.23andme.com/articles/african-american-sequencing-project/">African American Sequencing Project</a>, which also received funding from the NIH, to create a genomic reference panel that was shared with the broader scientific community for research.
2017: We launched the <a href="https://blog.23andme.com/articles/global-genetics-project/">Global Genetics Project</a>, further recruiting individuals underrepresented in genomics research, including 45 countries in Africa.
2018: We launched our <a href="https://blog.23andme.com/articles/23andmes-populations-collaborations/">Populations Collaborations Program</a>, which partners with academic researchers working across the globe to genotype people in communities who are underrepresented in genetics research, including Angola, Madagascar, and the Democratic Republic of the Congo.
2018: Thanks to contributions from our African Genetics Project and Populations Collaborations Program, we <a href="https://blog.23andme.com/articles/new-african-east-asian-details/">updated our Ancestry Composition report</a> to now reflect nine additional ancestry regions within Africa.
2018: Using external research, we developed a health report for G6PD deficiency, a blood disorder that can affect one in 10 African American men.
2019: We reached the milestone of 295,000 African Americans participating in 23andMe research, which is six times our cohort size just four years prior!
2019: The de-identified data from the African American Sequencing Project was made available to qualified researchers through the <a href="https://www.ncbi.nlm.nih.gov/">National Center for Biotechnology Information’s database of Genotypes and Phenotypes (dbGaP)</a>, allowing other qualified researchers to improve the accuracy of their genetic research on people of African descent.
2019: Using external research, we developed a report for TTR-related hereditary amyloidosis.  About one in 28 African Americans is estimated to have a gene variant that predisposes to this heart condition.
2020: We expanded our Global Genetics Project to specifically recruit from subregions within Nigeria.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-27481" src="https://blog-api.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-300x300.png" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1.png 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />2020: We launched our Black Representation in Genetic Research study, which will conduct RNA sequencing that will also be made publicly available to qualified researchers when complete.
2020: Our <a href="https://research.23andme.com/research-innovation-collaborations/">Research Innovations Collaborations program</a> made a specific call for proposals that are of high significance for underrepresented populations, including groups with African ancestry, in order to further address health disparities.
2020: Using external research, we developed a report for APOL1-related chronic kidney disease. Chronic kidney disease (CKD) is common and underdiagnosed, and the risk for severe disease is about three times higher in African Americans. About one in eight African Americans has a genetic predisposition for CKD due to variants in the APOL1 gene.
2021: 23andMe now has one of, if not the largest research cohort of genotyped and phenotyped people of African ancestry, with hundreds of thousands of individuals consenting to participate in research.
<h6>Studies Relevant to the Black Community</h6>
Because of these recruitment efforts, 23andMe has already been able to conduct health-related genome-wide association studies specific to people with African ancestry for example around <a href="https://link.springer.com/article/10.1007/s00439-017-1836-1">uterine fibroids</a> and <a href="https://www.nature.com/articles/s41588-018-0307-5">alcohol and tobacco use</a>. This research may also help us develop more health reports that are particularly important for this group. Foundational studies like these are key to reducing disparities in health care in the future.
Thanks to this research, we have also learned more about human history and migration, and can now match customers to over 150 subregions within Africa. We also r<a href="https://blog.23andme.com/articles/transatlantic-slave-trade-paper/">ecently published one of the most comprehensive investigations of the genomic consequences of the transatlantic slave trade</a> ever done in the American Journal of Human Genetics.
<img loading="lazy" decoding="async" class="aligncenter wp-image-30848 size-full" src="http://35.88.189.111/wp-content/uploads/2022/02/DEI-Blog-1024x536-1.png" alt="" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/DEI-Blog-1024x536-1.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/02/DEI-Blog-1024x536-1-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/02/DEI-Blog-1024x536-1-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/DEI-Blog-1024x536-1-880x461.png 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />And this is only the beginning. With all this new data, the next few years should see a slew of new studies of particular interest and relevance to those of African ancestry. In addition to improving the inclusivity of our research and product, we are also committed to Diversity Equity and Inclusion across the board. That includes our hiring practices and employee experience, as well as community impact. And as Anne said, we’re asking that our customers hold us accountable. So keep checking back to make sure we’re advancing genetic research for all people, regardless of their ancestry.
<hr />
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. For important information and limitations regarding each genetic health risk report and carrier status report, visit  <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info/</a>.

Reflecting on Improving Diversity in 23andMe Research for Black History Month

23andMe Researchers analyzed weight measurements from 23andMe research participants in the weeks before, during, and after the Christmas holiday 2020. 
For many of us, holiday weight gain is just another end of year tradition. 
But this year&#8217;s seasonal celebrations, like many things in 2020, were different. 
23andMe scientists wanted to know whether the annual tradition of gaining a few pounds over the holiday was any different this year. 
To do this our scientists analyzed daily weight measurements from about 1,000 23andMe customers who consented to participate in research and connected their mobile health data (Apple® Health, Google FitTM) to the 23andMe mobile app. 
This is what we learned about weight trends between Dec 14 to Jan 3. 
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="449" src="https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-1024x449.jpg" alt="" class="wp-image-27549" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-1024x449.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-300x132.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-768x337.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-880x386.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock-1180x518.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/09/Diet-Exercise-istock.jpg 1545w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>We avoid the scale on Christmas</h6>
Weigh-ins on Christmas day are lower compared to other days of the year, by about 15 percent.
It is easy to imagine why we might not step on the scale on Christmas: maybe we&#8217;re away from the scale and out of our normal routines, or we might just be trying to avoid receiving negative information. There’s a name for that, a behavioral phenomenon known as the <a href="https://effectiviology.com/ostrich-effect/">Ostrich effect</a>.  
<h6>On average people gain weight, but it&#8217;s not very much</h6>
In the days leading up to Christmas, weight measurements indicated that participants&#8217; weight was relatively stable during that time. But on the days following Christmas, the data indicate that participants put on weight, about half a pound on average. That means that overall among the research participants in the study, there was more weight gained than lost in the few days after Christmas. 
<h6>The holiday aftermath </h6>
It may be no surprise that we tend to gain weight over the holidays, but according to the data, it doesn&#8217;t stop at Christmas. 
Approximately half of the participants in the study (51 percent) showed an increase in weight during the week following Christmas, which includes New Year&#8217;s Day. Fifty-eight percent of males and 43 percent of females in the study logged weight increases during this week compared to their pre-Christmas weight. 
Weight increases seen after Christmas were moderate, around one or two pounds. Only a fraction of participants (about 18 percent) logged weight increases of two pounds or more. 
<h6>Closing the book on 2020 </h6>
All in all, the results of our analysis suggest that despite the chaos of 2020, the consequences of seasonal holiday indulgences seemed to continue as expected, although we may have tried to avoid them by not stepping on the scale. 
<h6>Getting ready for 2021</h6>
The new year is still young and it likely has a few more curveballs in store for us. But in terms of your health, 23andMe customers can start tracking data like steps, exercise, heart rate, and calories using the Lifestyle Dashboard in the 23andMe Apple and Android apps. To visit, look for the ‘Lifestyle Dashboard’ link on your app home tab, or under the health section. (Not yet a customer? Find out more <a href="https://www.23andme.com/compare-dna-tests/?sub=fyf">here</a>,) 
Because even if we can&#8217;t predict what 2021 will bring for us, at least we can track it. 
<hr />
Apple®, iPhone®, Apple Watch® are registered trademarks of Apple, Inc.
©2020 Google LLC All rights reserved. Google FitTM is a trademark of Google LLC.

Holiday Season Weight Trends 2020

<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="300" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/sun-300x300.png" alt="" class="wp-image-25177" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



A team of scientists at 23andMe created a new model to better estimate skin cancer risk, one of the most commonly diagnosed forms of cancer.



Details of the new model are included in a study published in <a href="https://www.nature.com/articles/s41467-020-20246-5">Nature Communications</a> today.



Using genetic and other data from more than 210,000 customers who consented to participate in the research, the 23andMe team created a model to calculate a risk score for the three forms of skin cancer. The model relied on more than 100 known genetic variants for skin cancers and dozens of non-genetic risk factors, including family cancer history, <a href="https://www.23andme.com/topics/traits/skin-pigmentation/">skin pigmentation</a>, and sun exposure.



According to the study&#8217;s lead author, Pierre Fontanillas, Ph.D., and a senior statistical geneticist at 23andMe, the new model could help detect skin cancer earlier. 



“There remains considerable room to improve the risk model by including additional data, especially from people of non-European ancestry,” said Pierre. “But we’ve shown the ability to use a risk model to potentially identify people with elevated risk for skin cancer who do not currently have identifiable symptoms.”<code></code><wp-block data-block="core/more"></wp-block>



<figure class="wp-block-image alignright wp-image-26632 size-medium"><img loading="lazy" decoding="async" width="199" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg" alt="" class="wp-image-26632" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-scaled.jpg 1701w" sizes="auto, (max-width: 199px) 100vw, 199px" /><figcaption class="wp-element-caption">23andMe Senior Statistical Geneticist Pierre Fontanillas, Ph.D.</figcaption></figure>



<h2 class="wp-block-heading" id="h-one-in-five">One in Five</h2>



Such early detection could have broad benefits. In the United States alone, one in five people is likely to develop skin cancer in their lifetime. Despite being preventable, more than 15,000 Americans die each year from one of the three major types of skin cancer — basal cell carcinoma, squamous cell carcinoma, and melanoma.



Using the new model they developed, the 23andMe scientists found the research participants in this study with the highest risk scores were up to 13 times more at risk of <a href="http://35.88.189.111/articles/new-23andme-report-on-skin-cancer">developing skin cancer.</a> The work doesn’t just offer the potential for identifying people with elevated risk for cancer. It also could help predict such things as the age of onset and the severity of cancer.



Early detection and treatment for skin cancer can go a long way in improving outcomes. Currently, early detection relies on regular full-body skin examinations. While inexpensive and non-invasive, there’s little evidence that it’s an effective method for detecting skin cancer in the general population. Developing a more accurate predictor for individual risk for cancer has been difficult.



<h2 class="wp-block-heading" id="h-new-tools">New Tools</h2>



Finding tools for better risk prediction and earlier detection offers hope for better outcomes.



“These scores rely on the long tail behavior of the genetic and non-genetic factors and potentially enable the identification of asymptomatic individuals with elevated skin cancer risk,” the scientists said in the paper.



Because this initial work included data primarily from customers with European ancestry, the researchers plan to expand the study to include data from individuals with non-European ancestry. Also, they hope to improve how they estimate sun exposure and refine the genetic risk score. According to the researchers, the goal is to develop risk estimates accurate enough to be used clinically and individually.



<h2 class="wp-block-heading" id="h-polygenic-risk-scores">Polygenic Risk Scores</h2>



Over the last several years, scientists have developed <a href="https://blog.23andme.com/articles/nilanjan-chatterjee">polygenic risk scores </a>that rely on large sets of genetic and non-genetic data to better calculate disease risk. 23andMe has used this kind of risk modeling for its <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">Type 2 Diabetes Report (Powered by 23andMe research)</a>. The T2D report calculates a polygenic score based on more than 1000 genetic variants. The report also relied on data from more than 1.1 million 23andMe customers who consented to participate in the research. 



As more genetic data become available, polygenic risk models are increasingly being used to help calculate risk. Often, these models use many hundreds, or even thousands, of genetic variants to calculate risk. These new models can also include other factors — such as lifestyle and environmental influences — to offer a clearer picture of disease risk. Also, including data from more diverse populations can be used to predict risk in underrepresented populations better.



At this time, 23andMe does not offer a report on skin cancer.

A Better Way to Estimate Skin Cancer Risk

In July, 23andMe launched a large-scale study of <img loading="lazy" decoding="async" class="alignright wp-image-28381 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/08/IPF-300x246.png" alt="Illustration for Idiopathic Pulmonary Fibrosis" width="300" height="246" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/08/IPF-300x246.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/08/IPF.png 643w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe currently has more than 4,000 people with IPF participating in research, making this one of the largest genetic studies of the condition to date. Currently, there is no cure for IPF. Our researchers are already generating novel insights into this uncommon but debilitating condition, including a possible link to increased risk for COVID-19. <a id="f1" href="#a1">[1]</a>

<h2>A Rare Condition</h2>
Idiopathic pulmonary fibrosis (IPF) is a rare condition [2] that affects approximately 100,000 people in the United States, or less than .05 percent of the population. Such a low prevalence of IPF makes it challenging to find enough people with the condition to participate in research, making studying the disease to understand its causes and prognosis difficult.
<h2>IPF Risk Factors</h2>
The risk of IPF is thought to be partly influenced by genetics. For example, a variant in the promoter of the MUC5B gene may predispose its carriers to chronic inflammation — and eventually to IPF — by reducing the clearance of harmful substances such as cigarette smoke.[3]
However, known genetic variants are not likely to fully explain who develops IPF or why. Through our <a href="https://blog.23andme.com/research-communities/ipf/">study</a>,[4] we hope to find novel risk factors for manifesting IPF symptoms within and beyond the genome. Previous studies suggested that environmental factors, including infections with certain viruses (e.g., the Epstein-Barr virus causing mononucleosis),[5] smoking, or occupational exposures [6] may also contribute to IPF risk. Other studies have linked IPF to acid reflux disease, postulating that stomach acid may get aspirated into the lungs and cause characteristic scarring.
<h6>IPF and COVID-19 Risk</h6>
There is strong evidence that suggests individuals with lung conditions such as IPF are at higher risk for COVID-19 and its complications.[7] Additionally, IPF and severe COVID-19 share a set of risk factors. For example, men are at higher risk for both COVID-19 and IPF, so too are older adults. Certain underlying conditions, such as those affecting the cardiovascular system, also put one at higher risk for IPF and COVID-19.
Because IPF is a rare condition, we did not have enough data to investigate the connection between IPF and COVID-19 in depth. We did, however, inquire whether individuals diagnosed with IPF are more likely to report taking protective measures such as physical distancing during the current pandemic.
Early in the pandemic, we asked 23andMe research <a href="https://blog.23andme.com/23andme-research/social-distancing-and-covid-19/">participants</a> whether they practiced social distancing or avoiding crowds.  We found a strong correlation, suggesting individuals with an IPF diagnosis were more likely to avoid public gatherings (OR= 1.87, P-value=1.74e-5). The correlation held when adjusted for age, sex, essential worker status, education, urban vs. rural residence, and measurement timing. Associations with the two other measures of physical distancing — keeping distance from others and avoiding public places — were not statistically significant.
<h2>IPF Insights </h2>
In addition to COVID-19 insights, our data from more than 4,000 participants in the 23andMe database helps to corroborate some of the earlier observations and offer new insights.
For example, we observed a strong correlation between having IPF and gastrointestinal reflux (odds ratio (OR)=2.89, P-value=1.82e-184). We also saw a weaker correlation between IPF and a history of mononucleosis (OR=1.45, P-value=0.0002). Individuals with IPF were also more likely to report more smoking throughout their lifetime (OR=1.26, P-value=1.33e-6). All of our estimates were adjusted for age, sex, and ancestry.
Although the causes of IPF are not well understood, the data clearly show the impact the condition has on patients’ lives. Among those participating in the 23andMe IPF study and in the 23andMe database, having IPF is strongly associated with depression, anxiety, and decreased quality of life (depression, OR=3.34, P-value=1.01e-29, and anxiety, OR=1.21, P-value=9.02e-81).
Our participants reported sleep disturbances (OR=2.24, P-value=1.13e-26), shortness of breath (OR=6.09, P-value=5.68e-115), and migraines (OR=3.57, P-value=1.93e-8). We also saw strong associations between IPF and allergy symptoms, which is consistent with previous reports. However, our data do not allow us to disentangle the cause-and-effect relationship between the two. The top associations with IPF in our database are summarized in Figure 1.
<div id="attachment_28664" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28664" class="wp-image-28664 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF-300x243.png" alt="A graphic showing the top environmental wide associations with IPF" width="300" height="243" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF-300x243.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 1: Environment-wide association study of IPF in the 23andMe customer population. Top IPF-associated factors are listed on the left, with the number of customers who provided information on each factor in parentheses. The estimates of association are presented with error bars on the right side.</div>
<footer class="footnotes"></footer>
Additionally, we looked at gastrointestinal distress symptoms that commonly accompany medications taken by IPF patients, i.e. pirfenidone, nintedanib, and N-acetylcysteine. We observed a significant association between IPF diagnosis and irritable bowel symptoms, adjusted for age, sex, and race/ethnicity (OR=1.90, P-value&lt;1.00e-16). Upon additional adjustment for medication use, the association lost its statistical significance (OR= 1.50-1.53 depending on medication, P-values&gt;0.05), suggesting that the observed correlation between IPF and gastrointestinal symptoms was strongly mediated by medication use.
<h2>IPF Demographics in the 23andMe Database</h2>
From a demographic standpoint, our study population is consistent with the current understanding of IPF epidemiology. The prevalence of IPF strongly increases with age (Figure 2), and there is evidence that the aging process accelerates this disease&#8217;s pathogenesis. [8]
Although past reports indicate that men are far more affected by IPF than women, in our data set, the prevalence of IPF among men only slightly exceeded that among women (7.4 cases per 10,000 men vs. 7.0 cases per 10,000 women). However, it is believed that the previously reported increase in risk among men may be attributed to historical smoking patterns rather than underlying biological differences, and is likely to diminish as smoking rates drop. The diversity of our customer cohort enabled us to also consider IPF patterns by race/ethnic group. We observed the highest prevalence (7.8 cases per 10,000 individuals) among individuals of European descent, followed by African Americans (6.7 cases per 10,000 individuals). Individuals of East Asian descent had the lowest prevalence of IPF (2.4 cases per 10,000 individuals).
<div id="attachment_28666" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28666" class="wp-image-28666 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group.-300x288.png" alt="" width="300" height="288" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group.-300x288.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group..png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 2. Prevalence of IPF in the 23andMe data set by age group.</div>
Our study included IPF patients from all 50 U.S. States (Figure 3). The observed geographic patterns reflected the effects of age (i.e. states with an older population, like Arizona and Florida, had a higher prevalence of IPF) as well as occupational exposures&#8211; e.g. mining in West Virginia and New Mexico.
With our powerful data collection and analysis platform, we are just beginning to understand IPF risk and disease history. We appreciate any new data from our customers as it helps us get closer to finding new effective treatments for this debilitating condition.
<div id="attachment_28665" style="width: 522px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28665" class="wp-image-28665 size-full" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state..png" alt="" width="512" height="330" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state..png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state.-300x193.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" />Figure 3. The geographic distribution of IPF prevalence among 23andMe customers by state.[9]</div>Our efforts to recruit participants with IPF to our study and expand upon these findings are ongoing. Learn more <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">here</a>.
<hr />
<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> P.M. George, A.U. Wells, R.G. Jenkins <a href="https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(20)30225-3/fulltext">&#8220;Pulmonary fibrosis and COVID-19: The potential role for antifibrotic therapy&#8221;</a> Lancet Respir Med, 8 (2020), pp. 807-815</footer>
<footer class="footnotes"><code style="display: none;"></code> <a id="f2" href="#a2">[2]</a> <a href="https://medlineplus.gov/genetics/condition/idiopathic-pulmonary-fibrosis/#statistics">&#8220;Idiopathic Pulmonary Fibrosis&#8221;</a> MedlinePlus, US National Library of Medicine</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a href="#a3">[3]</a>  Mahida R, Turner <a href="https://thorax.bmj.com/content/68/5/401">&#8220;MUC5B: a good target for future therapy in pulmonary fibrosis?&#8221;</a> BMJ:Thorax 2013;68:401.</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f4" href="#a4">[4]</a> <a href="https://www.blf.org.uk/support-for-you/idiopathic-pulmonary-fibrosis-ipf/causes">&#8220;Causes of IPF&#8221;</a> British Lung Foundation  </footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a href="#a5">[5]</a> Ibid.</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f6" href="#a6">[6]</a> <a href="https://www.nhs.uk/conditions/idiopathic-pulmonary-fibrosis/">&#8220;Overview Idiopathic Pulmonary Fibrosis&#8221;</a> National Health Service, UK </footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f7" href="#a7">[7]</a> P.M. George, A.U. Wells, R.G. Jenkins <a href="https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(20)30225-3/fulltext">&#8220;Pulmonary fibrosis and COVID-19: The potential role for antifibrotic therapy&#8221;</a> Lancet Respir Med, 8 (2020), pp. 807-815</footer>
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<a id="f8" href="#a8">[8]</a> Ley, Brett, and Harold R Collard. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848422/">“Epidemiology of idiopathic pulmonary fibrosis.”</a> Clinical epidemiology vol. 5 483-92. 25 Nov. 2013, doi:10.2147/CLEP.S54815</footer>
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<a id="f9" href="#a9">[9]</a> Mahida R, Turner <a href="https://thorax.bmj.com/content/68/5/401">&#8220;MUC5B: a good target for future therapy in pulmonary fibrosis?&#8221;</a> BMJ:Thorax 2013;68:401.</footer>
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Insights from 23andMe’s Study of Idiopathic Pulmonary Fibrosis

By Eli Chanoff, 23andMe Research Associate
Parkinson’s disease (PD) has been a central focus of 23andMe’s research since our company’s early years.
Over more than a decade, we have grown a community of tens of thousands of individuals, with and without Parkinson’s, who are committed to making a difference through research. With this community, 23andMe researchers have contributed to more than <a href="https://www.23andme.com/publications/">20 papers</a> offering new insights into the disease. As a result, we are in a unique position to advance our understanding of this disease and, in particular, to investigate genetics&#8217; role in both Parkinson’s disease risk and progression.
<h2>LRRK2 G2019S</h2>
The G2019S variant in the LRRK2 gene is associated with a significantly increased risk of developing Parkinson’s disease. 23andMe launched the Parkinson’s Impact Project (PIP) in 2018 to learn about the experience of people who carry the LRRK2 G2019S variant. The project consists of a comprehensive baseline survey and shorter quarterly follow-up sessions completed by consented research participants who are eligible carriers with and without a diagnosis of PD. The baseline survey was also completed by a large group of consented, eligible research participants without the G2019S variant who were matched to the carriers based on age and sex. 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />Less than half of individuals with one copy of the variant develop Parkinson’s disease. Understanding why some carriers develop the disease while others don’t could offer key insights into novel approaches to slowing or stopping disease progression.
In addition, since a higher portion of the carrier population is at risk of being diagnosed with PD, it’s safe to assume that the cohort will also have an increased proportion of individuals with early-stage (prodromal) disease but who have not yet been diagnosed. Therefore, traits enriched in the carrier cohort relative to matched controls may represent early warning signs of Parkinson’s disease. However, these traits could also result from the G2019S mutation entirely unrelated to PD. Follow-up analyses are needed to distinguish between findings due to simply being an LRRK2 G2019S carrier and those due to having early-stage disease.
Although this is very much a work in progress, we strongly believe it is important and appropriate for us to share preliminary data with those participating in the study and the broader community. Below, we review a few of our initial results from the analysis of the baseline survey data.
<h2>Our Findings</h2>
Of those surveyed, 16 percent of G2019S carriers and 2.6 percent of non-carriers reported a diagnosis of Parkinson’s disease. We have separated our cases and controls into those with and without the G2019S variant–regardless of Parkinson’s status–to precisely measure the association between this genetic variant and a set of Parkinson-related phenotypes.
Phenotypes can refer to traits, clinical symptoms, environmental exposures, and comorbidities in this context. When considering the link between any phenotype and Parkinson’s, it is important to remember that a phenotype could be caused by PD, could be a risk factor for PD, or could be an early warning sign of PD. Symptoms are a subset of phenotypes and are distinct from other phenotypes–even physiological ones–because of their use in a clinical setting.
Below is some of the data we gathered from the PIP baseline survey. Please note that presenting with any of these phenotypes does not mean having Parkinson’s disease. Our services are not meant to diagnose or treat any disease. Please contact your doctor or a <a href="https://www.michaeljfox.org/news/movement-disorder-specialists">movement disorder specialist</a> if you want to be evaluated for Parkinson’s.
<h2>Motor Findings</h2>
Motor symptoms, such as tremors, stiff or slow movements, impaired posture or balance, and rigidity, are the characteristics most commonly used to diagnose Parkinson’s disease. While other motor and non-motor phenotypes are also common, these canonical motor symptoms remain more widely studied and are often what first comes to mind when people think about PD.
The baseline survey asked respondents about a series of motor phenotypes derived from the commonly used MDS-UPDRS rating scale, a few of which are included below. This chart shows the percentage of G2019S carriers and non-carriers who reported experiencing trembling or shaking in any part of their body, changes in handwriting, gait, or stooping posture. Recall that both carriers and non-carriers may or may not have a diagnosis of Parkinson’s disease.
These data show that some motor phenotypes previously associated with non-genetic Parkinson’s disease, were reported more frequently by G2019S carriers than non-carriers. While more analysis is needed, early results support the hypothesis that carriers are at increased risk of experiencing these symptoms based on their genetics.
<h2>Non-motor Phenotypes</h2>
In addition to motor symptoms, several non-motor phenotypes have been linked to Parkinson’s disease. However, many of these, such as constipation and cognitive changes, also occur in non-PD populations, and PD also increases in frequency with age, making the selection of appropriate controls very important.
The first chart below shows results from our survey for a few non-motor PD phenotypes. This chart shows the percentage of carriers and non-carriers who reported having trouble concentrating on things, like reading the newspaper or watching television, or who felt down, depressed, or hopeless on at least half of the days in the previous two weeks. It also includes those who reported having fewer than three bowel movements in a typical week.
These data do not clearly show a difference in the risk of developing certain non-motor phenotypes between carriers and non-carriers.
Our survey also asks for additional pieces of participants’ health histories to assess possible links between other health conditions and Parkinson’s disease. Finding an association between PD and another condition may suggest similarities between the biological pathways underlying either disease. Establishing these associations also helps us understand the significance of different PD risk factors.
In this second chart, we show results for a few conditions that are thought to have some relationship with PD. It shows the percentage of carriers and non-carriers diagnosed with or treated for restless leg syndrome, head injury or concussion, and allergies.
Interestingly, these data suggest that having the LRRK2 G2019S variant may increase the risk of having allergies. A previous 23andMe publication titled <a href="https://www.nature.com/articles/s41531-019-0077-5">The Parkinson’s phenome–traits associated with Parkinson’s disease in a broadly phenotyped cohort</a> found a link between seasonal allergies and PD, suggesting a possible similarity in the immune system’s role in both conditions. Our new results support that possibility.
<h2>What’s Next</h2>
The data provided by the respondents to this survey serve as an important first step toward measuring disease progression and potentially identifying clinically useful early signs of PD in LRRK2 G2019S carriers. By participating in our surveys, 23andMe customers fill in the gaps in our knowledge and provide a clearer picture of how this disease manifests.
We are excited to continue this research and are grateful for the many consented research participants who make it possible. As our collection of phenotypic data grows, we aim to share results from the Parkinson’s Impact Project.

Preliminary Results from the Parkinson’s Impact Baseline Survey

Even with promising <img loading="lazy" decoding="async" class="alignright wp-image-29418 size-larger" src="http://35.88.189.111/wp-content/uploads/2021/12/COVID-Image-880x410.png" alt="" width="880" height="410" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-880x410.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-300x140.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-768x358.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1024x477.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1180x550.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image.png 1394w" sizes="auto, (max-width: 880px) 100vw, 880px" />
As the World Health Organization leaders<a href="https://www.reuters.com/article/health-coronavirus/wrapup-1-europe-must-grit-our-teeth-on-covid-19-as-vaccine-euphoria-fades-idUSL1N2HY1Q0"> said recently</a>: &#8220;We may be tired of COVID-19, but it is not tired of us.&#8221;
To help our customers and others during this next phase in the pandemic, 23andMe wanted to remind readers of its <a href="https://you.23andme.com/covid19/">COVID-19 Information Center</a>. To create this resource, our scientists culled through data from the US Centers for Disease Control (CDC). We also condensed data from our own COVID-19 research study looking at genetic differences in both susceptibility and severity of the disease. The site includes data from both sources and offers people a place to learn more about the virus. It also highlights conditions that carry added risks, and actions you can take to lessen your risk.
<h6>Growing Numbers</h6>
With the numbers and rate of infections continuing to climb this fall, taking preventative actions and understanding risk is even more critical than ever. It&#8217;s sobering to note that in just nine months, the number of confirmed cases in the United States went from one to more than 10 million.
Beyond the stunning trajectory in the rate of infections, the numbers also illustrate that the virus hits each person differently. The virus can be deadly for some.  Projections estimate that deaths from COVID in the U.S. will <a href="https://covid19.healthdata.org/united-states-of-america?view=total-deaths&amp;tab=trend">exceed 300,000 by the end of 2020</a>. For many others, infections will mean hospitalization, or it may result in on-going health issues. But for the majority of those who are infected, the effects may be relatively mild.
<h6>Differences in Susceptibility and Severity</h6>
A need to understand why that is, why the virus hits some so much harder than others, helped drive <a href="https://you.23andme.com/covid19-study/">23andMe&#8217;s COVID-19 Study</a>. We learned a lot. That genetics — specifically blood type — might play a role in the illness&#8217;s susceptibility and severity. We <a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/">published our findings</a> in September and shared them with other researchers worldwide looking for new treatments for the virus.
But we also know that other non-genetic factors also play a significant role, including age and underlying chronic health conditions. We included some of this data in our study. For example, the data shows that underlying chronic health conditions like obesity and type 2 diabetes significantly increased the risk for hospitalization for COVID-19. Simply being overweight increased the risk for hospitalization by about 34 percent over those with average body mass index among those participating in our study.
<h6>Other Underlying Chronic Health Conditions</h6>
In our COVID-19 Information Center, we used preliminary data from the Centers for Disease Control. The information center gives people a way to learn how chronic health conditions might add to their hospitalization risk. (Editor’s Note: This data was from early in the pandemic, and the hospitalization rates have changed since then.)
For example, people with COVID-19 who also have chronic renal disease were almost three times as likely to be hospitalized as others with the virus, according to the CDC data. About three-quarters of patients with the virus and with chronic renal disease were admitted to the hospital. This compares to about 23 percent of all patients with COVID-19 in the study. More than a quarter, (28 percent) of those with COVID-19 and chronic renal disease were admitted to the ICU. This is compared to 7 percent of all COVID-19 patients.
The COVID-19 Information Center also looks at how smoking may increase the risk of hospitalization for those infected. Current or former smokers with COVID were more likely to wind up in the hospital, according to the data. About 43 percent of current and former smokers with the virus required hospitalization and 15 percent were admitted to the ICU.
Those interested in learning more about these and other risk factors can find the COVID-19 Information Center<a href="https://you.23andme.com/covid19/"> here</a>. You can learn more about 23andMe’s COVID-19 Study<a href="https://you.23andme.com/covid19-study/"> here</a>.
<img loading="lazy" decoding="async" class="aligncenter wp-image-28653 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2020/11/Covid-Info-center.png" alt="" width="1024" height="173" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center.png 2368w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center-300x51.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center-1024x173.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center-768x130.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center-880x149.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Covid-Info-center-1180x199.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />

A logo for 23andMe's COVID-19 Research Study

Research — Page 17