Researchers at 23andMe have identified a new <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic variant</a> associated with COVID-19 induced loss of smell and taste.
The findings, published in a preprint released on <a href="https://www.medrxiv.org/content/10.1101/2021.05.28.21257993v1">medRxiv</a>, note that the genetic variant is near two olfactory genes.  Loss of smell and, or taste — also called anosmia — is a hallmark symptom of COVID-19. It is often the earliest indication of infection, and in some cases, the only symptom. An individual with one copy of the variant is about 11.5 percent more likely to lose their sense of smell or taste if infected compared to someone with zero copies.
<h6>23andMe COVID-19 Study</h6>
The research adds another piece to the COVID-19 puzzle, and it builds on the work already done by 23andMe over the last year that includes new findings around <a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/">the role blood type plays </a>in severity and susceptibility to the virus. This piece of the puzzle is intriguing because the novel coronavirus SARS-CoV-2 first enters the body and accumulates in olfactory support cells. The findings may offer researchers important insights into the <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">biological pathway for infection</a>.
For these findings, the researchers again used data from more than one million people who consented to participate in 23andMe’s <a href="https://you.23andme.com/covid19-study/">COVID-19 Study</a>.  By examining the differences in the genome between COVID-19 cases who did and did not experience loss of taste or smell, our scientists identified an association on chromosome 4 near the olfactory genes UGT2A1 and UGT2A2 (Figure 1 and Figure 2a). 
<div id="attachment_28919" style="width: 890px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28919" class="size-larger wp-image-28919" src="http://35.88.189.111/wp-content/uploads/2021/05/ugt2a1-2-880x451.png" alt="A Manhattan plot showing a strong association in the genes UGT2a1/2" width="880" height="451" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2-880x451.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2-300x154.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2-768x394.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2-1024x525.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2-1180x605.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/05/ugt2a1-2.png 1494w" sizes="auto, (max-width: 880px) 100vw, 880px" />Figure 1. Manhattan plot of loss of smell vs. no loss of smell among those with a positive SARS-CoV-2 test.</div>
<h6>Relevant for All Ethnicities</h6>
The scientists ran separate genome-wide association studies for individuals of European, Latino, African American, East Asian, and South Asian ancestries, and then combined the data via a meta-analysis. The researchers evaluated the effect of the top-associated single nucleotide polymorphism (SNP) in the different ancestral populations (Figure 2).
<div id="attachment_28918" style="width: 522px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28918" class="size-full wp-image-28918" src="http://35.88.189.111/wp-content/uploads/2021/05/COVID-smell-snp-plot.png" alt="" width="512" height="398" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/COVID-smell-snp-plot.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/05/COVID-smell-snp-plot-300x233.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" />Figure 2a. Regional plot of the association detected in the vicinity of UGT2A1/2. </div>
<div id="attachment_28917" style="width: 522px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28917" class="size-full wp-image-28917" src="http://35.88.189.111/wp-content/uploads/2021/05/Covid-smell-p-values.png" alt="" width="512" height="315" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/Covid-smell-p-values.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Covid-smell-p-values-300x185.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /> Figure 2b. Population effect sizes and 95% confidence intervals.</div>
Those results show no evidence of a difference in the SNP effect between populations, although there is limited power to detect associations in the non-European populations. Nonetheless, the frequency of the risk allele does differ somewhat by population. It is most commonly observed in individuals of European ancestry (37 percent) and least commonly observed in individuals of East Asian ancestry (19 percent) (Table 1).
<table>
<tbody>
<tr>
<td>Population</td>
<td>Variant frequency</td>
</tr>
<tr>
<td>Europe</td>
<td>37%</td>
</tr>
<tr>
<td>South Asian</td>
<td>32%</td>
</tr>
<tr>
<td>African American</td>
<td>31%</td>
</tr>
<tr>
<td>Latino</td>
<td>30%</td>
</tr>
<tr>
<td>East Asian</td>
<td>19%</td>
</tr>
</tbody>
</table>
Table 1. Allele frequencies by population or rs7688383
<h6>Among the Most Common Symptoms</h6>
Early in the outbreak, the loss of smell and taste was recognized as a means to distinguish between patients with COVID-19 and those with simple colds or flu. That is, if you felt sick and had a loss of smell or taste, you were much more likely to have COVID-19 than another respiratory infection (<a href="https://www.nature.com/articles/s41591-020-0916-2">1</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7386529.1/">2</a>).
In the 23andMe COVID-19 study, two-thirds (68 percent) of those who tested positive for the virus reported loss of smell or taste, compared to just 17 percent of those who tested negative (Figure 3). Furthermore, in a model adjusted for other symptoms, age, and sex, the loss of smell or taste carried a seven-fold increased likelihood of testing positive for SARS-CoV-2 among those reporting illness.
<div id="attachment_28916" style="width: 522px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28916" class="size-full wp-image-28916" src="http://35.88.189.111/wp-content/uploads/2021/05/COVID-symptoms.png" alt="" width="512" height="316" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/COVID-symptoms.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/05/COVID-symptoms-300x185.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" />Figure 3. Frequency of symptoms reported among respondents with a cold or flu-like illness who did and did not have a positive SARS-CoV-2 result in the 23andMe study, ordered by percentage difference.</div>
<h6>Looking by Age</h6>
When the researchers looked at the symptoms by age, they found that among younger people with COVID-19 the loss of smell and taste was more common. Among those aged 26-35, 73 percent reported loss of smell, whereas only 43 percent reported loss of smell in those 85 or older (Figure 4). When the researchers looked at differences between men and women they found that women were more likely than men to report loss of smell or taste (72 percent  vs. 61 percent). While it is known that age is associated with lower sensitivity to smell, these findings held up when adjusted for self-reported ability to smell in advance of infection with SARS-CoV-2.
<div id="attachment_28915" style="width: 890px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28915" class="size-larger wp-image-28915" src="http://35.88.189.111/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-880x545.png" alt="" width="880" height="545" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-880x545.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-768x476.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-1024x634.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age-1180x731.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Loss-of-Smell-by-Age.png 1544w" sizes="auto, (max-width: 880px) 100vw, 880px" />Figure 4. COVID-19 related loss of smell by age group</div>
<h6>More About the Genetic Association</h6>
Little is known about what the genetic variant (rs7688383) does, or how it impacts the likelihood of losing your smell or taste during infection with SARS-CoV-2. But the olfactory genes UGT2A1/2 are part of a family of enzymes called uridine diphosphate glycosyltransferases and are expressed in the olfactory epithelium and metabolize odorant compounds. In the 23andMe database, both of these genes are related to such things as <a href="https://blog.23andme.com/23andme-research/genes-scream-for-ice-cream/">ice-cream</a> taste preference and ability to smell as measured by a self-reported five-point scale ranging from very poor to very good.
Recent evidence suggests that SARS-CoV-2 enters and accumulates in olfactory support cells, which abundantly express the viral entry proteins ACE2 and TMPRSS2 (<a href="https://advances.sciencemag.org/content/6/31/eabc5801">3</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241737/">4</a>). It has been proposed that olfactory sensation is impaired when these essential functions are disrupted, causing olfactory receptor neuron cilial impairment (<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488171/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488171/">5</a>). Given their localization and essential function in the metabolization and detoxification of compounds in the olfactory epithelium, the genes identified here, UGT2A1/2, may play a role in the physiology of infected cells and the resulting changes to the cilia that contribute to our ability to smell.
Many thanks to the over 1 million research participants who answered our questionnaire and made this research possible. 
*The 23andMe COVID-19 research team includes: Adam Auton, Adrian Chubb, Alison Fitch, Alison Kung, Amanda Altman, Andy Kill, Anjali Shastri, Antony Symons, Catherine Weldon, Chelsea Ye, Daniella Coker, Janie Shelton, Jason Tan, Jeff Pollard, Jey McCreight, Jess Bielenberg, John Matthews, Johnny Lee, Lindsey Tran, Maya Lowe, Michelle Agee, Monica Royce, Nate Tang, Pooja Gandhi, Raffaello d’Amore, Ruth Tennen, Scott Dvorak, Scott Hadly, Stella Aslibekyan, Sungmin Park, Taylor Morrow, Teresa Filshtein Sonmez, Trung Le, and Yiwen Zheng. 
[/vc_column_text][/vc_column][/vc_row]

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Scientists Find Genetic Link to Loss of Smell Among COVID-19 Patients

By Samantha Ancona Esselmann, Ph.D., and Chelsea Robertson, Ph.D.*
Editor’s note: A version of this post originally appeared earlier this year in our premium content for <a href="https://www.23andme.com/membership" target="_blank" rel="noopener">23andMe+</a> members. We are reposting it on 23andMe&#8217;s blog for Pride Month. In this article, the term “sex” is used in a developmental and biological sense. This article does not focus on sexual orientation or gender identity, which were addressed in a <a href="https://blog.23andme.com/23andme-and-you/genetics-101/celebrating-pride-month-a-spotlight-on-sex-and-gender/">previous blog post</a>.  
A shallow understanding of the mechanisms that determine biological sex might lead one to suppose that sexual development is a simple matter of reading the same recipe and always ending up with the same cookie. It’s not.
We are astonishingly complex bags of organic and inorganic chemicals that defy entropy until we die. You can change the recipe and end up with the same cookie, or follow the same recipe and end up with a completely different cookie. (And, if baking were easy, we wouldn’t have just finished the 10th season of the “Great British Baking Show.”) 
Infinitely more complicated than baking a 20-layer Schichttorte are the biological processes that determine your sex. Your sex, like Schichttorte, has a lot of layers. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-28892" src="https://blog-api.23andme.com/wp-content/uploads/2021/05/cookbook-2-251x300.png" alt="" width="251" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2-251x300.png 251w, https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2-768x920.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2-855x1024.png 855w, https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2-735x880.png 735w, https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2-985x1180.png 985w, https://blogcms.23andme.com/wp-content/uploads/2021/05/cookbook-2.png 1336w" sizes="auto, (max-width: 251px) 100vw, 251px" />
At the bottom, there’s your chromosomal and genetic sex. There are also sex organs, hormones, and secondary sex characteristics — like beards and breasts. Then, of course, there’s your biggest sex organ, your brain, wherein an incomprehensibly large ensemble of neurons shout, whisper, and sing a symphony of sexual identity that is wholly unique to you.
And while all those layers can be consistent with a binary definition of sex, sex is not binary: Any one of the layers can be swapped out for a different color or texture, or taste. Humans can be intersex.
In a recent 23andMe<a href="https://blog.23andme.com/23andme-and-you/genetics-101/celebrating-pride-month-a-spotlight-on-sex-and-gender/"> blog post</a> about sex and gender, Dr. Jey McCreight explained, “at least one in 1,500 births are intersex, meaning that a person’s anatomy and/or their chromosomes can’t be classified as typically male or female. This is a conservative estimate, as many people do not realize they are intersex until later in life. Some never find out.”
Let’s start at the very beginning.
<h6>The sex gene</h6>
During the first few <a href="https://www.ncbi.nlm.nih.gov/books/NBK279001/">weeks</a> of your life, you were an androgynous mass of cells. In form and face neither male nor female nor even recognizably human, you followed an age-old sequence of gestational milestones, starting with important ones like, “Grow heart!”

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="977" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-977x1024.png" alt="" class="wp-image-28890" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-977x1024.png 977w, https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-286x300.png 286w, https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-768x805.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-840x880.png 840w, https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution-1126x1180.png 1126w, https://blogcms.23andme.com/wp-content/uploads/2021/05/embryos-with-attribution.png 1336w" sizes="auto, (max-width: 977px) 100vw, 977px" /></figure>
 
As you bobbed and rolled, tethered to life by a spongy tube full of filtered blood, the cells of your primordial gonads still existed in a bi-potential state, meaning they possessed the power to develop and multiply into either ovaries or testes.
Which path these cells eventually followed depended on either the absence or the activation of a gene located on the Y chromosome. That gene is called SRY, or the Sex-determining Region on the Y chromosome&#8230; a very un-sexy name for the “sex gene.”

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="216" src="https://blogcms.23andme.com/wp-content/uploads/2021/05/sex-chromosome.png" alt="" class="wp-image-28891" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/sex-chromosome.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/05/sex-chromosome-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
In the absence of SRY activation, the default human embryo is female. But, turn on that switch and, like a soupy Rube-Goldberg machine, a fractal cascade of carefully orchestrated chemical events is initiated, knocking that developing embryo onto a “male” path. This path is not simply a matter of making all the male bits. It also requires a manual override of ovarian development — an active silencing of the default human protocol.
Needless to say, there’s a vas deferens between these two paths.
<h6>Chromosomes and sex</h6>
Through services like 23andMe, people may learn that their chromosomal sex doesn’t match the sex they were assigned at birth. We all fall on slightly different points along a spectrum between typical biological female and typical biological male, but most of us go through life without ever knowing the exact complement of chromosomes in our cells.
You need at least one X chromosome to survive past the tumultuous early days of embryonic development. But beyond this most basic requirement, there’s a lot of wiggle room in the pantheon of chromosomal sex.
Generally, people with no Y chromosome appear biologically female, while people with at least one Y chromosome appear male: Most females are XX, and most males are XY. But there are other combinations too, such as XXX, XXY, XYY, XYYY, XXXY, XXXX, X (also known as XO), and mosaic XY/X or XX/X individuals, whose unusual karyotypes arose from a failure of sex chromosomes to end up in the right place during cell division. (A karyotype is the number and appearance of your chromosomes under a microscope.)
But, your sex isn’t only about which sex chromosomes you have.
<h6>More on chromosomes: Why it’s not all about the Y</h6>
Over tens of millions of years, the Y chromosome’s role in humans has <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120474/">atrophied</a> to one of ferrying a few genes across the generations to enable us to reproduce sexually.
But, it’s possible to have a Y chromosome and be genetically female, hormonally female, and physically female (meaning you have a Y chromosome but lack a functioning SRY gene). It’s also possible to lack a Y chromosome and be genetically, hormonally, and physically male.
These situations typically arise in a father’s sex cells when there’s a mutation in the SRY gene, or when SRY jumps from a Y chromosome onto an X inside a sex cell — rendering the former almost completely vestigial and conferring the power of sex determination on the latter.
When an SRY-deficient Y chromosome is passed on, the sexual development of the XY fetus <a href="https://www.ncbi.nlm.nih.gov/books/NBK279001/">can</a> follow a similar path to that of a fetus without a Y chromosome. The other side of the same coin can mean that there are XX males who inherited an SRY gene on an X chromosome. There’s even <a href="https://academic.oup.com/molehr/article/12/5/341/1005702">a report</a> of a male with two X chromosomes who lacks the SRY gene, and scientists speculate that mutations in other genes related to sexual development can also promote masculinization. 
And, well, biological sex doesn’t exactly get less complicated from here.
Beyond SRY, sex determination and development also depend on a flurry of hormones that help direct and monitor the progress of the human build, from gestation to adulthood.
<h6>Hormones</h6>
Hormone signaling in the womb affected the progress of your sexual development and, in particular, the shape and formation of your external genitalia — the appearance of which had a big impact on the sex you were assigned at birth.
The assignment of a baby’s biological sex is rarely called into question when the infant&#8217;s genitalia appear “normal” or as expected. But by this point, you can probably guess, biological sex is not as simple as what’s visible in your nether regions.
Certain genetic variants affecting hormone production and signaling can have dramatic effects on the formation of genitalia in the womb. So while you can be XY or XX or X (XO), or any other combination, small changes in hormone production and signaling can push you in different directions along the spectrum of biological sex traits, much like how small changes in humidity or temperature can change the rise of your bake.
Got a variant that boosts your testosterone levels? Might not be noticeable if you are a male (XY) embryo, but XX females with a variant like this may have genitalia at birth that do not appear particularly male or female.
Got a variant that changes the way testosterone transmits signals to the cell? If you&#8217;re a female (XX) embryo you might not have any noticeable signs or symptoms at birth. But if you&#8217;re a male (XY)  embryo, your genitalia may appear more ambiguous.
What about when babies are born with the expected external genitalia, but nevertheless have differences in hormone production and signaling? Sometimes hormonal differences go largely unnoticed until the early teenage years when your hormones return to center stage in Act 2 of your sexual development — puberty.
Got a genetic variant that inhibits the production of testosterone? If you are a male (XY) embryo, it&#8217;s possible that your genitalia could appear female at birth. You could be raised as a female for over a decade, then puberty hits and your body doesn&#8217;t do the normal female puberty thing. Instead, you notice increased muscle mass, some facial hair, and a deeper voice.
So you can be XY, insensitive to the effects of testosterone in the womb, born with female genitalia, then go on to develop male secondary sex characteristics later in life.
Are the lines encircling the concepts of biological sex beginning to blur?
Let&#8217;s recap.
You can be chromosomally and genetically male or female, but depending on your particular hormone production and signaling systems, you might end up somewhere else on the spectrum of biological sex.
Hormonally and physically, you can be somewhere in between male and female.
<h6>So why does this matter?</h6>
Imagine, for a moment, how boring life would be if every baguette came out of the oven the same, or if every birthday cake had the same frosting, or the same filling. The more we understand about the textured, richly flavored layers of sexual development, the better equipped we are to mobilize empathy for others and their diverse experiences.
*Both Samantha and Chelsea are 23andMe Product Scientists, and both hold doctorates in neuroscience.
<hr />
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<li aria-level="1">McCreight, J. 2020. “<a href="https://blog.23andme.com/23andme-and-you/genetics-101/celebrating-pride-month-a-spotlight-on-sex-and-gender/">Celebrating Pride Month, a Spotlight on Sex and Gender.</a>” 23andMe blog.</li>
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<li aria-level="1">The Y chromosome is disappearing – so what will happen to men? by Darren Griffin, The Conversation. Retrieved October 25, 2020, from <a href="https://phys.org/news/2018-01-chromosome-men.html">https://phys.org/news/2018-01-chromosome-men.html</a></li>
<li aria-level="1">Montañez A. (2017). &#8220;Beyond XX and XY.&#8221; Sci Am. 317(3):50-51. https://pubmed.ncbi.nlm.nih.gov/28813372/</li>
<li aria-level="1">Gomez-Lobo V et al. (2016). &#8220;Disorders of Sexual Development in Adult Women.&#8221; Obstet Gynecol. 128(5):1162-1173. https://pubmed.ncbi.nlm.nih.gov/27741188/</li>
<li aria-level="1">Ha NQ et al. (2014). &#8220;Hurdling over sex? Sport, science,nd equity.&#8221; Arch Sex Behav. 43(6):1035-42. https://pubmed.ncbi.nlm.nih.gov/25085349/</li>
<li aria-level="1">MedlinePlus (2019, Aug 7). “Intersex.” Retrieved October 31, 2020, from https://medlineplus.gov/ency/article/001669.htm</li>
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</ol>

How was your sex determined? It might be a lot more complicated than you think

A massive new genome-wide association study led by the U.S. Department of Veteran Affairs is shedding new light on the genetic underpinnings of major depression.
More than 16 million Americans are affected by depression each year, and nearly 6 million Americans suffer from bipolar, according to the National Institutes of Health. However, current treatment options do not always work for people living with these conditions, and researchers hope that new insights into the condition&#8217;s genetics could help diagnose and treat it.
<h2>Million Veterans</h2>
For this study, scientists at Yale and the University of California, San Diego, used data from 1.2 million people to identify 178 genetic variants linked to depression.
The study, published in the journal <a href="https://www.nature.com/articles/s41593-021-00860-2">Nature Neuroscience</a>, included data from the Million Veteran’s Project, the UK Biobank, FinnGen, and from 23andMe customers who consented to participate in research. After the initial study, the researchers cross-checked their findings using an entirely separate cohort from 23andMe that included data from 1.3 million customers who consented to participate in research.
“What is most heartening is that we could replicate our findings in independent data sets,” said Daniel Levey, an associate research scientist in the Yale Department of Psychiatry and co-lead author. “Replication is a hallmark of good science, and this paper points to just how reliable and stable results from GWAS studies are becoming.”
<h2>Brain Development</h2>
A number of the genetic variants identified are giving researchers deeper insight into the underlying biology of depression. Researchers point to variants in or near the gene NEGR1, a neural growth regulator active in the hypothalamus, an area of the brain previously linked to depression.
That confirms research done by the late Yale neuroscientist Ronald Duman on the role of neurotrophic factors in depression, Levey said.
“It’s really striking when completely different kinds of research converge on similar biology, and that’s what’s happening here,” he said.
The size and breadth of the study will also help scientists create models to calculate risk — known as polygenic risk scores — to better estimate the risk of developing major depression or other related psychiatric disorders such as post-traumatic stress disorder and anxiety. Beyond estimating the risk, the hope is that new genetic insights will help in identifying better ways to treat depression and related conditions.
“One of the real goals of the research is bringing forward new ways to treat people suffering from depression,” said co-senior author Dr. Murray Stein, staff psychiatrist at the V.A. San Diego Healthcare System and Distinguished Professor of Psychiatry and Public Health at UCSD.

Study Offers More Insights into the Genetics of Depression

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.

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.”

Research — Page 16