If you are familiar with 23andMe, you know that a lot of science goes into what we do. But there have always been considerations about how to do our work ethically and responsibly.
<h2>Populations Collaborations</h2>
A good example is our recent work addressing disparities in genetics research for underserved populations internationally. As part of that work, we collaborate with scientists working among underserved communities in Africa, the Americas, and parts of Asia through our <a href="https://blog.23andme.com/23andme-research/23andmes-populations-collaborations/">Populations Collaborations Program</a>.
To ensure that this research is conducted ethically, 23andMe&#8217;s Research Team developed a framework specific to working in these communities.
The framework outlines key ethical principles and best practices for conducting research that meet the ethical challenges of engaging with populations historically underrepresented in genomics research. In the process, our team developed what could be a model for other researchers working in these communities.
<div id="attachment_28873" style="width: 890px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28873" class="size-larger wp-image-28873" src="http://35.88.189.111/wp-content/uploads/2021/05/Image-from-iOS-3-880x661.jpg" alt="Emily, left, and Anjali, on a recent trip doing local community engagement work for one of 23andMe's Population Collaboration Projects." width="880" height="661" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/Image-from-iOS-3-880x661.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Image-from-iOS-3-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Image-from-iOS-3-1024x769.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Image-from-iOS-3-768x577.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Image-from-iOS-3-1180x887.jpg 1180w" sizes="auto, (max-width: 880px) 100vw, 880px" />Emily, left, and Anjali, on a recent trip doing local community engagement work for one of 23andMe&#8217;s Population Collaboration Projects.</div>
<h2>Research Ethics at 23andMe</h2>
The Research Ethics team at 23andMe develops the protocols and policies for conducting all the research projects 23andMe undertakes. All of that research is overseen by an outside, third-party Institutional Review Board (IRB).
The IRB is involved early in any research project, looking at the proposed scope of the study, how we conduct that research, and how we communicate with participants. The IRB&#8217;s job is to ensure that our work complies with federal regulations. In turn, the 23andMe Research Ethics Team liaises between the IRB and our scientists.
<h2>The Common Rule</h2>
23andMe also applies The Common Rule (The Federal Policy for the Protection of Human Subjects (also known as the Common Rule or 45 CFR part 46) to all of its research. The Common Rule promotes the ethical conduct of research and the protection of people participating in research).
It was built upon the ethical principles in the Belmont Report, which describes guidelines for treating people right in research. Those guidelines, first developed in the early 1970s, grew out of the revelations that detailed the egregious treatment of biomedical research people. Among the more infamous in this country is the Tuskegee syphilis study. From the Belmont Report come the basic principles around respecting research participants, ensuring that participants are not harmed and are treated fairly.
<h2>Representation</h2>
However, when conducting research with underrepresented international populations, additional ethical considerations require tailored approaches and commitments that expand beyond the federal regulations for conducting ethical research. To this end, we identified a need to develop an ethical framework that extends beyond the requirements of the Common Rule. We wanted to provide guidelines and best practices for the conduct of ethical industry-academia collaborative research with understudied populations.
Coordinating all that work is a tall order, but after more than 15 years, we have it down to a science. It helps that 23andMe baked ethical considerations into what we do from the beginning. It also helps that we have regulatory rules to help guide that work.
Emily and Anjali, members of the 23andMe Research Team, are responsible for this. The team includes a core group of experts who ensure that the interests of our research participants and customers are considered and protected.
<h2>International Ethics Framework</h2>
In February, 23andMe Regulatory Scientist Emily Bullis, MA, and Senior Program Manager Anjali Shastri, Ph.D., presented an <a href="https://elsihub.org/video/prospectus-ethical-issues-context-collaborations-between-academic-and-non-academic">ethical framework</a> developed for Industry and academic partnerships in genetics research as part of a seminar series put together by the Center for ELSI Resources and Analysis, which is based at Columbia University. ELSI is the acronym used for the Human Genome Project&#8217;s Ethical, Legal, and Social Implications of mapping the human genome.
Founded in 1990, the program helps to identify and address issues that could arise from genetic research that impact people, families, and communities. 23andMe has engaged with the ELSI community since our founding. The framework guides our work on the Populations Collaborations Program, which has involved research collaborations in Angola, Madagascar, Honduras, and the Democratic Republic of the Congo, among other locales.
The framework was developed for 23andMe’s purposes, but Emily and Anjali actively seek feedback. They’ve contacted scientists, bioethicists, non-academics, and the communities impacted by our international research. Ultimately, they hope the framework will inform other genetic research in underrepresented populations. In turn, it could help expand that research&#8217;s impact and benefit.  
<h2>It Starts with Stakeholders</h2>
Emily and Anjali built the framework by identifying the key stakeholders who should have a say in conducting the research. The stakeholders they identified include the local community being studied, the research participants, and the local scientists and regulatory bodies and their institutions.
They also shared some of the core principles of the framework we developed:
<ul>
<li>The first pillar of the framework is a commitment to: build and maintain long-term relationships with each of these groups, before, during, and after the research takes place</li>
<li>The second pillar is to, through these interactions, derive local, historical, social, political, and economic context</li>
<li>The third pillar is a commitment to developing all aspects and plans for the research in collaboration with key stakeholders so they have a say in how the research is conducted and how their data are used. The hope is that these groups inform all aspects of the research. For example:</li>
</ul>
<ul>
<li style="list-style-type: none;">
<ul>
<li aria-level="2">They help develop educational materials to explain the research and the informed consent.</li>
<li aria-level="2">They communicate potential risks to the individual and community being studied and help develop the plans to minimize these</li>
<li aria-level="2">They help develop plans for the research data and samples to be sure that they collected, used, and stored according to community preferences</li>
<li aria-level="2">They help identify opportunities to maximize benefits to be shared with the local community, including supporting local scientists</li>
<li aria-level="2">They help identify the best way to give the research results back to the participants.</li>
</ul>
</li>
</ul>
These simple principles have not always been followed by western researchers working among underrepresented populations. Language and cultural barriers, the lack of access to technology or education, can further compound the problem. <code> </code>
In working with our collaborators, 23andMe ensured that our researchers engaged with local academic institutions and communities before, during, and after their work. We and our collaborators worked with local groups to ensure that community members fully understood the risks and benefits of participating in research. For some of our collaboration projects, 23andMe has created scholarships for local community members, given out community benefit grants, and assisted local scientific institutions.
<h2>Behind Every Data Point</h2>
Ethics, rules, and regulations are important, but probably what is most important at 23andMe is our culture.
At the core of 23andMe is the idea that behind every data point is a human being. And that research participants are not subjects, but people who belong to communities and populations and deserve to have a voice in research.
That culture is what overlays all the work we do. As our research has expanded to include collaborations with scientists working with remote and underrepresented populations around the world, new issues can pop up. But it’s our culture, built on a respect for people, and approaches developed by our Research Team, that helps guide us. Maintaining that integrity promotes trust and support for the research we do that can also benefit people living in those understudied communities.

23andMe Blog

23andMe Blog Team

An Ethical Framework for International Research

Along with being uncomfortable, hemorrhoids are uncomfortable to talk about which may in part explain why little research has been done on the condition.
But a large new international study published recently identified more than 100 regions in the human genome that contribute to the<a href="https://gut.bmj.com/content/early/2021/04/22/gutjnl-2020-323868"> risk of developing hemorrhoids.</a> The research offers important insights into why some people develop the condition and others don’t.
<h6>Smooth Muscle</h6>
Using genetic data from almost one million individuals, as well as analysis of tissue samples, the researchers zeroed in on genes involved in controlling the function of “smooth muscle function.” Smooth muscles are found in the walls of organs like the intestines or stomach and work automatically.
“Our findings indicate that hemorrhoidal disease results, at least in part, from dysfunction of smooth muscle, epithelial and connective tissue,” said <a href="https://www.ikmb.uni-kiel.de/people/scientists/andre-franke">Professor Andre Franke</a> of the Institute of Clinical Molecular Biology at Kiel University, Germany. “This points to specific mechanisms in an otherwise poorly characterized common condition. (It) may lead to the development of additional non-invasive therapeutic options in the long run.”
Franke and <a href="https://www.cicbiogune.es/people/mdamato">Professor Mauro D’Amato</a> of the research institute CIC bioGUNE in Bilbao, Spain coordinated the study. The work included data from the UK Biobank and from 23andMe customers who consented to participate in research.
<h6>Common Condition</h6>
About one in 20 Americans and almost half of those over 50 have experienced the condition, <a href="https://www.niddk.nih.gov/health-information/digestive-diseases/hemorrhoids/definition-facts">according to the NIH</a>. But hemorrhoidal disease hasn’t been well studied. Researchers remain unsure about the exact molecular mechanisms for the condition or why some people develop them and others don’t.
In this latest study, the researchers identified new genetic associations for the risk for hemorrhoids. But they also developed a risk model to calculate the likelihood of developing the condition. The use of what are called polygenic risk models. These risk models allow for the use of many hundreds, or even thousands, of genetic variants to calculate risk. Some of these models also include other factors, to improve the risk calculation. Those other factors might include such things as lifestyle and environmental influences. In this case, the researchers used only genetic data to create a risk model and then tested it in independent cohorts. Higher scores were associated with increased risk for hemorrhoidal disease. Higher scores were also associated with younger age at diagnosis, and the need for surgery. (Currently, 23andMe does not offer a report on hemorrhoidal disease.)
The risk model could ultimately help to identify people at increased risk of developing hemorrhoidal disease. This would allow them to more closely monitored and to a greater degree benefit from preventative lifestyles, according to Professor D’Amato.
You can read more about the study in the journal <a href="https://gut.bmj.com/content/early/2021/04/22/gutjnl-2020-323868">Gut</a>.

The Genetics of Hemorrhoids

If you&#8217;ve had trouble sleeping over the last year, you&#8217;re not alone, according to a new national sleep survey from 23andMe.
The new data indicate that another side-effect of the pandemic is that a lot of us are having more difficulty falling asleep. When we finally do, we&#8217;re waking up more at night or having COVID-related or health-related dreams, according to the online survey conducted in early March.
&#8220;The survey offers another proof point for the impact of the pandemic and the ensuing stay-at-home orders,&#8221; said Eric Rasmussen, 23andMe’s Director of Consumer Insights &amp; Product Marketing. &#8220;What we don&#8217;t know yet, but something 23andMe scientists would like to know, is how much of an impact these disruptions might have on people&#8217;s <a href="https://www.23andme.com/dna-health-ancestry">long-term health</a>.&#8221;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="675" height="711" src="https://blogcms.23andme.com/wp-content/uploads/2013/04/Empty-Bed.jpg" alt="" class="wp-image-17852" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/04/Empty-Bed.jpg 675w, https://blogcms.23andme.com/wp-content/uploads/2013/04/Empty-Bed-285x300.jpg 285w" sizes="auto, (max-width: 675px) 100vw, 675px" /></figure>
 
<h6>COVID Dreams</h6>
The sleep survey results indicate just how much the pandemic has disrupted people&#8217;s lives.
More than a quarter of those surveyed reported having trouble falling asleep. At the same time, about 23 percent of those surveyed said they were waking up more than usual. Another 19 percent of the survey respondents said they were restless through the night. One in ten of those surveyed said they either dreamed about COVID-19 or had other health-related dreams.
While not unexpected, the survey gives more data showing how the disruption to work, school, and social interactions have impacted people. Over half of the participants surveyed, 55 percent, were either furloughed, laid off, or working from home. A majority of this group said they were waking up later than they did before the pandemic — 60 percent and 64 percent, respectively. This change could be attributed to a disruption in daily routine, added stress from job loss, or the pandemic&#8217;s uncertainty.
<h6>Sleep Studies</h6>
Sleep and stress each play a role in overall health. 23andMe scientists and their collaborators have looked at several components of sleep, including <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006125">wake times</a>,<a href="https://research.23andme.com/wp-content/uploads/2018/10/Y_Huang_ASHG18_final.pdf"> sleep apnea,</a> and <a href="https://www.sciencedirect.com/science/article/abs/pii/S019745802030124X?via%3Dihub">REM sleep</a>. 23andMe also offers customers throughout its services various reports on obstructive sleep apnea, sleep movement, deep sleep, and more. Each of these different sleep-related issues could affect sleep patterns and contribute to restlessness.
The data from 23andMe&#8217;s sleep survey is consistent with other published data over the last few months, indicating the pandemic&#8217;s impact on sleep. A<a href="https://nutrition.bmj.com/content/early/2021/03/03/bmjnph-2021-000228"> study published in early March</a> noted that sleep disruption and stress among healthcare workers during the pandemic is also associated with a higher risk of infection and more severe symptoms from COVID-19. But broad population-wide changes in sleep patterns are notoriously difficult to study.
<h6>Waking Later</h6>
The survey offers one way to look at those changes. But 23andMe&#8217;s research model is also uniquely able to look at sleep patterns more broadly. Over the last year, 23andMe research biostatistician, Teresa Filshtein Sonmez, Ph.D., has looked at data on activity levels and sleep among more than 130,000 consented 23andMe research participants. The sleep data is challenging to understand because our data come from smart devices rather than sleep trackers. Specifically, we know when a device becomes inactive at night, how long each device has been inactive at night, and when a device first becomes active the next morning. Device inactivity is not a direct measure of sleep but can be used to detect substantial changes in our customers’ behavior. By measuring smartphone activity and inactivity, Teresa can gauge changes in when research participants will sleep, wake up, and how long they were asleep.
According to the sleep data, people began sleeping more and waking up later immediately after the first shelter-in-place orders went into effect in March of 2020. In the beginning, people slept a lot more, 1.5 hours more each night, according to the data.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="819" src="https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-1024x819.png" alt="" class="wp-image-28858" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-1024x819.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-300x240.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-768x614.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-880x704.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/wake_time_plot-1180x944.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
While this wasn&#8217;t a measure of sleep quality, it does show a significant change in sleep patterns due to the pandemic. That new pattern has also changed, however. Over the course of 2020, people adjusted to new schedules, and their sleep patterns crept back to what they were like before.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="819" src="https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-1024x819.png" alt="" class="wp-image-28857" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-1024x819.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-300x240.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-768x614.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-880x704.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/sleep_time_plot-1180x944.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
Sleep patterns have slowly crept back toward pre-pandemic patterns. Still, the internal 23andMe research data indicate that people continue to sleep later and get up later each day. But now, instead of sleeping an hour-and-a-half more each night, as they did right at the beginning of the pandemic, they&#8217;re sleeping an hour longer.
The data from 23andMe&#8217;s sleep survey, together with data from 23andMe&#8217;s internal research, shows how the pandemic has transformed lives. The larger question about how this may or may not impact overall health still needs to be studied. And these insights come as another disruption looms on the horizon, with many workers going back into the office or their children going back to school.

The COVID-19 Pandemic’s Impact on Sleep

Myriam Raber, a dentist in northeastern Ohio, is often mistaken for what she is not.



“I let people label me sometimes,” Myriam said. “I go the hospital, and they look at my husband or my kids and then me and, without asking, they check ‘white.&#8217;”



An immigrant from Haiti, Myriam often butts up against the labels used in the US.&nbsp;



“I don’t feel like I have to fit in any one box,” Myriam said. “I think there are more and more people like me, and there will be even more people like me in the future.”



<figure class="wp-block-image size-full is-resized"><img loading="lazy" decoding="async" width="267" height="300" src="http://35.88.189.111/wp-content/uploads/2021/03/Myriam-head-shot-267x300-1.jpg" alt="" class="wp-image-33678" style="aspect-ratio:1;width:375px;height:auto"/><figcaption class="wp-element-caption">Dr. Myriam Raber, DDS</figcaption></figure>



<h2 class="wp-block-heading" id="h-your-ancestry-and-your-health">Your Ancestry and Your Health</h2>



But Myriam also knows that there is a difference between how you culturally identify and what your genetics might say, and that difference could impact your health.



“I know what I am culturally — I’m Haitian,” Myriam said. “But genetically, I’m just a mix; I’m a Caribbean mix.”



While she isn’t bothered by being mistaken for being white, or Hispanic, or Jewish, she understands that, at least in medicine, it’s essential to know a person’s ethnicity. A person’s ethnicity plays a role in their risk for certain conditions or how they respond to certain medications.



Knowing about these differences is also the reason why she is participating in 23andMe’s research. Improving the diversity of research participants will help scientists learn new insights into conditions that affect people with African ancestry or mixed African and European ancestry, like Myriam.



“Obviously, I’m in healthcare, and I believe the future of healthcare is in DNA,” she said.



<h2 class="wp-block-heading" id="h-covid-19-s-uneven-impact">COVID-19’s Uneven Impact</h2>



Everybody responds a little differently to medicines or illness. Myriam believes that a person’s genetics — along with things like their diet and exercise — holds the key for researchers trying to better understand those differences.&nbsp;



The impact of COVID-19 offers perhaps the most vivid example of that, Myriam said. African Americans and Latinos are more likely to be hospitalized or die from the virus when compared to white patients. Poverty and access to adequate healthcare may explain some of it, but not all.



“I believe it’s probably in the DNA, and that’s the same for cancer or anything really,” Myriam said.



<h2 class="wp-block-heading" id="h-people-like-me">People Like Me</h2>



In dentistry, she has seen issues created by the lack of research among people of non-European ancestry. For example, during a lecture on tooth development when she was in dental school, the instructor told a class about when different teeth came into the mouth.&nbsp;



“Well, I knew that for a Haitian child, that tooth often comes in a whole two to four years earlier,” Myriam said. “This (data from the instructor) was more relevant for a white child from the midwest than a black child in Haiti. This has had serious consequences for many. I know it affected how Haitian children were being classified and processed by the United States immigration services.”



There were other examples, whether the timing for puberty or some medications were more or less effective depending on a person’s ethnicity. Myriam knew that the science was often incomplete for those with African ancestry, for instance, because those populations weren’t included in the research.



“So basically, there were no good studies for people like me,” she said.



<h2 class="wp-block-heading" id="h-participating-in-research">Participating in Research</h2>



In 2018 researchers found that about&nbsp;<a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30231-4">78 percent of genome-wide association studies</a>&nbsp;were done in European populations alone. That means that these studies’ findings are often not as relevant for people of African or Asian or Latino or Indigenous&nbsp;<a href="https://www.23andme.com/dna-ancestry">ancestry</a>. Leaving those populations out of research also impedes a fuller understanding of the genetic architecture of disease.



For Myriam, it just makes sense to improve the diversity of research participants.



“As a mixed-race healthcare professional, I believe that medicine will rely heavily on genetics for custom-made preventive and curative programs,” she said. “Traditional research used to lump people into racial groups with minorities being underrepresented.”



For Myriam, changing that by participating in research may open up genetic discoveries that have the potential to benefit everyone and perhaps instill the same sense of wonder at the uncovered insights.

Research for People Like Me

A new study by scientists at 23andMe, the Hospital for Sick Children (SickKids), and the University of Toronto offers insight into how the nuclear genome controls the emergence of mutations in mitochondrial DNA.
Published in<a href="https://advances.sciencemag.org/content/7/12/eabe7520/tab-article-info"> Scientific Advances</a>, the new findings will help researchers studying serious mitochondrial diseases.
&#8220;Mitochondrial diseases represent a very large spectrum, and many are fatal,” said Neal Sondheimer, M.D., Ph.D., principal investigator of the study and Staff Physician in Clinical and Metabolic Genetics at SickKids. “With a better understanding of how mitochondrial variants emerge, we can explore new possibilities for the prevention or possibly the treatment of disease.&#8221;
<h6>mtDNA</h6>
We often refer to genetics as if each person has one genome, but we all actually have two genomes – the nuclear genome and mitochondrial genome.
The <a href="https://www.23andme.com/dna-health-ancestry">mitochondrial</a> genome (known as mtDNA) is uniquely inherited only from our mother. It operates under separate rules for inheritance and repairs to its structure. Mitochondria act like tiny cellular power plants in our bodies. Even though mtDNA represents just a small fraction of our DNA, they have outsized importance. Even small differences in mtDNA can cause serious mitochondrial diseases. Those differences may have a significant impact on such things as Alzheimer&#8217;s disease, aging, autism, preterm birth, and more.
<h6>Heteroplasmy</h6>
Mitochondrial function and DNA maintenance rely on nuclear genome-encoded components. The presence of mtDNA mutation leads to a phenomenon called heteroplasmy – an area of focus for this study.
Heteroplasmy occurs when two or more variants of mtDNA exist in the same cell. The study used data from almost one million 23andMe customers, who consented to participate in research, to calculate heteroplasmy and then identify regions of the nuclear genome that were associated with heteroplasmy. Two candidate areas in the nuclear genome associated with heteroplasmy are known to be involved in the replication of mtDNA.

Scientists uncover new information about how hard-to-treat genetic diseases are inherited

As a family medicine doctor Abayomi Jones has seen disparities in healthcare firsthand — the lack of access, or insurance, or poverty, or all of the above contribute to poor outcomes, but there’s also more to it than that.&nbsp;
“Yeah I see it and I understand why there’s mistrust in the (Black) community around research or science in general. It’s hard not to,” said Dr. Jones.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="731" src="https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-1024x731.jpg" alt="" class="wp-image-28806" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-1024x731.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-300x214.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-768x549.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-880x629.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/03/jones-abayomiPhoto-1180x843.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Unequal Outcomes</h6>
Racism plays a role, she said. Some of it is historical, such as the infamous Tuskegee Syphilis Study. But some of it is happening right now, such as<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843483/"> how pain medication is administered</a> differently between Black and white patients. In other cases, it might be less obvious but even those subtle differences result in unequal outcomes.&nbsp;
And the pandemic has only “exposed the racism and equity gaps in healthcare that were already there, to begin with,” Dr. Jones said.&nbsp;
You see it in the vastly different outcomes for between Black and white patients with COVID-19, for example.
<h6>A Need for More Inclusive Research</h6>
But despite those problems with the current system, Dr. Jones sees value for her and other African Americans to participate in research. Right now, not enough <a href="https://www.23andme.com/research/">genetic health research</a> includes people from the Black community, leaving them less likely to benefit from the insights of that research. She’s also seen this firsthand in daily medical interactions in the clinic.&nbsp;
For example, oftentimes doctors take BMI as a total number, instead of looking at body distribution and body types, she said. And they use this “average” as a general metric for all populations.
“That feels like an insult,” Dr. Jones said. “I don’t think people take it that way but the data that was used to derive that table was taken from people who do not look like me or that doesn’t take into account people who look like me.”
It’s the idea that so much of health research talks about the “average population” but that in many cases that average isn’t from all populations.&nbsp;
“And I think a lot of times in healthcare (average) is a synonym for “normal” and I think that’s the unspoken bias,” Dr. Jones said. “It’s that the average is ‘normal,’ but what if you are not a part of that average? What does that make you?”
<h6>The Motivation to Participate</h6>
That’s part of her motivation for participating in 23andMe research. She also believes that if more African Americans participate in research, whether with 23andMe, or the National Institutes of Health, there will be more relevant data around conditions that are so much more prevalent within the African American community.
“Which are all the diseases that have some of the highest mortality rates like diabetes, heart disease and weight-related conditions like hyperlipidemia,” Dr. Jones said.
Dr. Jones is also interested, not just in how the healthcare system treats people differently depending on their race, or how health research has left out the Black population, but in the health effects of racism itself.
“How stress affects your health, and the post-traumatic stress of racism specifically,” she said.
By participating in research Dr. Jones hopes to contribute to research that will benefit the Black community.
“The biggest thing is transparency,” she said. “I want to know who is profiting from this research and how will it be used? I think there is a lot of interest in how this research&nbsp; can help us and other people too.”

Participating to Improve Representation in Research

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.

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.

Research — Page 16