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 />
<ol>
<li aria-level="1"><a href="https://www.ncbi.nlm.nih.gov/books/NBK279001/">Rey R, Josso N, Racine C. Sexual Differentiation. [Updated 2020 May 27]. In: Feingold KR, Anawalt B, Boyce A, et al., editors.</a></li>
<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>
<li aria-level="1">Bachtrog D. (2013). &#8220;Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.&#8221; Nat Rev Genet. 14(2):113-24. https://pubmed.ncbi.nlm.nih.gov/23329112/</li>
<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>
<li aria-level="1">MedlinePlus (2010, Feb 1) “CYP21A2 gene: Health Conditions Related to Genetic Changes.”  Retrieved October 31, 2020, from https://medlineplus.gov/genetics/gene/cyp21a2/#conditions.</li>
<li aria-level="1">MedlinePlus (2018, Sept 1)“Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.” Retrieved October 31, 2020, from https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/</li>
<li aria-level="1">Ohnesorg T et al. (2014). &#8220;The genetics of disorders of sex development in humans.&#8221; Sex Dev. 8(5):262-72. https://pubmed.ncbi.nlm.nih.gov/24504012/</li>
</ol>

23andMe Blog

23andMe Blog Team

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

Over the last year, since the tragic murder of George Floyd, 23andMe has taken a number of steps to improve our approach in building a more diverse, equitable, and inclusive workplace. We identified four focus areas that we’ve been making progress on over the past year, including:
<ol>
<li aria-level="1">Hiring: Attract and hire top, diverse talent.&nbsp;</li>
<li aria-level="1">Employee Experience: Cultivate an inclusive environment that authentically celebrates our shared genome and unique differences.&nbsp;</li>
<li aria-level="1">Product &amp; Research: Use our product to build and sustain Diversity, Equity, and Inclusion (DEI) in every customer and community interaction.</li>
<li aria-level="1">Community Impact: Use our relationships to build diverse, equitable, and inclusive communities.</li>
</ol>
We have committed to holding ourselves accountable, while also rallying others to take action and be part of shaping a better future. To aid in these efforts, our CEO and co-founder Anne Wojcicki recently joined the<a href="https://www.ceoaction.com/"> CEO Action for Diversity &amp; Inclusion™</a> pledge to collaborate with other organizations in order to further our DEI efforts. The coalition, which now includes more than 1,600 CEOs across 85 industries, is the largest CEO-driven business commitment to advance diversity and inclusion within the workplace.
“Creating a more inclusive work environment and product is a lifelong journey that will require continuous input and feedback,” Anne said. “Joining this pledge will allow us to collaborate and learn from other organizations so that we can all build more diverse, equitable, and inclusive workplaces and products.”
The pledge centers around four main commitments that align with 23andMe’s commitments to DEI. They include:
<ul>
<li aria-level="1">Cultivate trusting workplaces that can have complex, and sometimes difficult, conversations.</li>
<li aria-level="1">Implement and/or expand unconscious bias education.</li>
<li aria-level="1">Share best—and unsuccessful—practices.&nbsp;</li>
<li aria-level="1">Create and share strategic inclusion and diversity plans with the board of directors (or equivalent governing bodies).</li>
</ul>
23andMe has already begun working on each of these four commitments, but this pledge offers another opportunity to hold ourselves accountable. We also hope that it will help encourage other companies to make similar moves toward creating more diverse, equitable, and inclusive workplaces.
&nbsp;

CEO Action for Diversity & Inclusion

Most of us have at least one genetic variant that may alter how our bodies process certain commonly prescribed medications. Yet, very few of us know about it.
That’s because genetic testing for these variants, also known as <a href="https://www.23andme.com/test-info/pharmacogenetics/">pharmacogenetic</a> testing, is rare. But these genetic differences can impact how a person responds to certain prescribed medications.
<h6>CYP2C19 Drug Metabolism Medication Insights</h6>
This week 23andMe released two new Medication Insight reports* as part of our <a href="https://www.23andme.com/membership?ada=on">23andMe+</a> Membership. The membership offers more than ten new reports and features throughout the calendar year giving members even deeper insights into their health. 23andMe remains the first and only direct-to-consumer company with FDA-authorized pharmacogenetic reports.
Our two new reports provide medication insights on how a person’s <a href="https://www.23andme.com/topics/pharmacogenetics/cyp2c19/">CYP2C19 metabolizer profile</a> may impact citalopram and <a href="https://blog.23andme.com/articles/the-debate-over-clopidogrel-continues">clopidogrel therapy</a>. The reports look at clopidogrel, a blood thinner, and an antidepressant, citalopram. About 22 million people in the US are prescribed citalopram.<a id="f1" href="#a1">[1]</a> About 20 million have prescriptions for clopidogrel.<a id="f2" href="#a2">[2]</a> <a href="https://blog.23andme.com/articles/pharmacogenetics-report">23andMe’s FDA clearance</a> of these new reports also removes the need for confirmatory testing in a clinical setting for specific CYP2C19 outcomes. The reports explicitly state that customers should consult their healthcare provider before making any changes to their medications.
<img loading="lazy" decoding="async" class="alignright wp-image-28527 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/09/PGt-Home-231x300.png" alt="23andMe mobile pharmacogenomics" width="231" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home-231x300.png 231w, https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home-790x1024.png 790w, https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home-768x996.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home-679x880.png 679w, https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home-910x1180.png 910w, https://blogcms.23andme.com/wp-content/uploads/2020/09/PGt-Home.png 1583w" sizes="auto, (max-width: 231px) 100vw, 231px" />
The <a href="https://ghr.nlm.nih.gov/gene/CYP2C19">CYP2C19 gene</a> provides the instructions for making the<a href="https://blog.23andme.com/articles/variants-and-drug-processing"> CYP2C19 enzyme</a>, which helps the liver process (or “metabolize”) important medications. The enzyme also helps to process other medications such as over-the-counter treatments for acid reflux and ulcers, called proton pump inhibitors.
Last year 23andMe in collaboration with UCSF published research confirming just how common some of these variants are. Our research indicates that for about 30 percent of our customers, clopidogrel will be “likely less effective.” For East Asian and South Asian customers, it’s more than half who’ll see that result. About 3 percent of customers have an “increased chance of side effects” result for citalopram. Among East Asians and South Asians the percentage is between 10 percent and 12 percent.
<h6>Actionable Results</h6>
These new reports are part of 23andMe’s larger offering of Pharmacogenetic Reports* on three genes that impact a total of 11 medications. Together they offer 23andMe+ members a new class of reports, giving them deeper insight into their health. The results are among the most highly actionable genetic reports consumers can receive.
It has long been known that genetics influences why people respond differently to certain medications. But it is very rare for people to learn about those differences before they’ve already been prescribed a medication.
The study by researchers from 23andMe in collaboration with UCSF found that the <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719394/">majority of people</a> have at least one genetic variant in the CYP2C19 gene that impacts how the body processes certain medications, including clopidogrel and citalopram. Earlier this year, <a href="https://www.jacc.org/doi/10.1016/j.jcin.2021.01.024">a meta-analysis showed</a> that patients with loss-of-function variants in the CYP2C19 gene had a 30 percent reduction in ischemic events — including heart attacks and strokes — when treated with alternative antiplatelet medications, including ticagrelor or prasugrel, versus clopidogrel.
Our own research indicates that 70 percent of 23andMe customers would receive a potentially actionable result from our pharmacogenetic reports.<a id="f3" href="#a3">[3]</a>
<h6>Knowledge is Power</h6>
When it comes to medicines, we know that one size doesn’t necessarily fit all. Different people may respond differently to the same medicine due to factors like their age, weight, liver and kidney function, diet, or even other medicines they might be taking.
And we also know that for many medications, genetic factors also play an important role. Through our research and through the work of other scientists we’ve learned how common it is for people to have genetic variants that affect how we metabolize certain medicines. People could potentially benefit from knowing that they metabolize some medications differently than others.
23andMe’s Pharmacogenetic Reports offer consumers a chance to learn about these differences, and then to share that information with their healthcare provider so that they are better able to prescribe the right medicine at the right dose. Customers should not use their results to start, stop or change their medications without first consulting their healthcare provider.
If you are not yet a 23andMe+ member you can find out more <a href="https://www.23andme.com/membership">here</a>. 
<code></code>References:<code> 
</code><a id="f1" href="#a1">[1]</a> ClinCalc.com “Top 300 Drugs of 2021”; <a href=" https://clincalc.com/DrugStats/Top300Drugs.aspx "> https://clincalc.com/DrugStats/Top300Drugs.aspx </a><code> 
</code><code></code> <a id="f2" href="#a2">[2]</a> Ibid.
<footer class="footnotes"><code> </code><a id="f3" href="#a3">[3]</a> <a href="https://www.ahajournals.org/doi/10.1161/circ.140.suppl_1.16081">https://www.ahajournals.org/doi/10.1161/circ.140.suppl_1.16081</a><code> 
</code><a>&gt; </a></footer>
<footer class="footnotes"></footer>
<hr />
<h6>Note:</h6>
*23andMe PGS Pharmacogenetic reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva for the purpose of reporting and interpreting information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic. Our CYP2C19 Pharmacogenetic report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Results for SLCO1B1 and DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action.  
<h6>Warning: </h6>
Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogentic reports, visit www.23andme.com/test-info.

Two New Medication Insight Reports for 23andMe+ Members

23andMe is committed to helping doctors and other healthcare professionals keep up with evolving patient conversations around genetics. That is why 23andMe has collaborated with Osmosis, a leader in educational services for current and future clinicians, to create a series of micro-learning online videos.
As more and more consumers turn to genetic testing, physicians and other healthcare providers are increasingly being asked to interpret and discuss results. The first set of micro-learning videos include overviews<a href="https://www.youtube.com/watch?v=crsxdOnJg1I&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=2"> of direct-to-consumer testing</a>,<a href="https://www.youtube.com/watch?v=2h8VGE7Jvwg&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=4"> privacy, and consumer choice</a>, <a href="https://www.youtube.com/watch?v=SPLlOf4-PMM&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=1">genetic variation and disease</a><a href="https://www.youtube.com/watch?v=mDRuI8hxS0c&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=3">,</a> and finally,<a href="https://www.youtube.com/watch?v=mDRuI8hxS0c&amp;list=PLY33uf2n4e6MZpssct5f5416EuZxzfYUA&amp;index=3"> interpreting results</a>.
“This is meant to be an engaging and efficient resource for healthcare professionals,” said Anne Greb, MS, Certified Genetic Counselor, and 23andMe Medical Education Team lead. “The content in the videos is designed to address specific practice-based competencies that all physicians are expected to have in order to provide a standard of care to patients around genetic issues.”
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-32340" src="http://35.88.189.111/wp-content/uploads/2021/05/Genetic-Variation.jpg" alt="" width="1846" height="886" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation.jpg 1846w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation-300x144.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation-768x369.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation-1024x491.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation-880x422.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Genetic-Variation-1180x566.jpg 1180w" sizes="auto, (max-width: 1846px) 100vw, 1846px" />
<h6>Tools to Use</h6>
The new series comes as healthcare providers are increasingly handling questions from their patients about genetics and genetic testing. In turn, there’s much more interest from physicians looking to engage with their patients on the topic.
A<a href="https://blog.23andme.com/health-traits/physicians-dtc-dna-testing/"> recent survey by Medscape</a>, commissioned by 23andMe, found that physicians are much more comfortable discussing DNA testing than they were just two years ago. About 60 percent of those surveyed said they were comfortable discussing DNA testing results with their patients, compared to just 24 percent who said so in 2018. That survey also found that about 39 percent of those surveyed felt comfortable interpreting their patients’ results. While the percentage was much higher than the 15 percent in 2018, it illustrated that there’s still room for improvement.
For several years now,<a href="https://medical.23andme.com/"> 23andMe’s Medical Education team</a> has engaged with physicians, nurses, genetic counselors, pharmacists, and other healthcare professionals to learn more about their needs and to explain the ins and outs of 23andMe’s reports. In those conversations, we’ve learned about the need for resources to inform and educate health care professionals about direct-to-consumer testing, the specifics about what can be learned through testing, and even general genetic concepts. Among the resources 23andMe has created are<a href="https://medical.23andme.com/webinars/"> webinars</a>,<a href="https://medical.23andme.com/stories/"> customer stories</a>, educational videos on specific reports, such as 23andMe’s Genetic Health Risk Report on BRCA1/BRCA2 or our Carrier Status report on Sickle Cell Anemia, and much more.
<h6>Osmosis Collaboration</h6>
This latest series of videos was the work of Osmosis, a leading health education platform for clinicians and caregivers, to create even more resources. These first videos are aimed specifically at healthcare providers, but the videos are accessible enough that anyone interested in diving into these topics could benefit.
&#8220;Bringing this series to life was really rewarding. The level of comprehensiveness achieved is impressive,&#8221; says Pauline Rowsome, Illustration Lead at Osmosis&#8217;s Diffusion Studios. &#8220;From scripting, animating and voiceover, the major challenge was to cover the wide range of information provided in four short videos, all while still maintaining a great level of detail. I may be biased, but I think it turned out incredibly!&#8221;
Ryan Haynes and Shiv Gaglani started building Osmosis as medical students at Johns Hopkins. Outside of the classroom, they knew there had to be a better way to learn medicine more effectively. With Ryan’s PhD in neuroscience from Cambridge and Shiv’s MBA from Harvard, the two learning experts transformed the tool they created to help their classmates into a comprehensive platform that helps people around the world understand health more thoroughly. Their simple, clear, and concise approach to medical education learning appealed to 23andMe’s team and aligned with 23andMe’s broader mission to help people access, understand, and benefit from the human genome.

Resources for Healthcare Professionals

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

For almost five years, Megan McCarthy didn’t celebrate Mother’s Day. She couldn’t; it was too painful. 



It reminded her of losing her mom, who passed away 13 years ago. It was all too much. But this year, and for the last three years, Megan is all in.



“It’s a full celebration again,” Megan said.



She describes her story of losing one mother only to find another with the help of 23andMe as miraculous.



“There are no words for the abundance of gratitude I feel for this marvel,” Megan said recently after sharing the story. “What child gets to feel the extraordinary love of two mothers in one lifetime? A miracle.”



<figure class="wp-block-image"><img loading="lazy" decoding="async" width="848" height="880" src="http://35.88.189.111/wp-content/uploads/2021/05/Nike-blur-848x880.jpg" alt="Megan and her birth mom Mary." class="wp-image-28855" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur-848x880.jpg 848w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur-289x300.jpg 289w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur-986x1024.jpg 986w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur-768x797.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur-1137x1180.jpg 1137w, https://blogcms.23andme.com/wp-content/uploads/2021/05/Nike-blur.jpg 1259w" sizes="auto, (max-width: 848px) 100vw, 848px" /><figcaption class="wp-element-caption">Megan and her birth mom, Mary, soon after meeting for the first time.</figcaption></figure>



<h2 class="wp-block-heading" id="h-guilt">Guilt</h2>



It was never a secret. Megan always knew she was adopted. It was something her parents shared with her early in life.



They also never let her forget how loved she was and created a family—Megan and her brother, Mike—bonded by that love. For her, it was like she’d “won the adoption lottery.”



Her mother stayed home to raise her and her brother. Her dad was an honest, hard-working role model. They offered lessons in faith, family, and love. Her parents knew she might one day be curious to learn more about her birth mother, and let her know that was OK, but that didn’t erase the guilt Megan felt about wondering about her birth mother.



Raised in the Midwest, Megan and her family would sometimes visit Chicago, and she remembers seeing women among the crowds of people on the streets and wondering. “Is that my mom?” In her head, the questions bubbled up: Who was she? What was she like? Would she embrace me if we met?



“Deep down I wanted to know her, to see her face, to have her arms around me, but something always stopped me,” Megan said.



With those feelings came the guilt.&nbsp; After all, Megan had two parents who loved her unconditionally. Wasn’t that enough?



And there was something else. Megan worried that maybe her birth mom had closed that chapter of her life. If Megan searched and found her, maybe that would just reopen the pain of having to give up a child.



“How could I do that to her when she made the decision to give me a better life than she could have provided?” Megan said. “The ultimate act of love: letting go. I made my peace with this decision but that never stopped the yearning to potentially love the woman who gave birth to me and to have her love me back.”



The one thing Megan knew was that her birth mom had been 18, and she didn’t want to reopen what might have been a traumatic moment in her birth mom’s life.&nbsp;



<h2 class="wp-block-heading" id="h-an-instant-sister">An Instant Sister</h2>



So, Megan didn’t search. Instead, she buried her yearnings and moved on with her life.



She started her own family. Megan and her husband had a daughter.



Even a few years ago, when on the cusp of turning 50, she decided to use 23andMe, it wasn’t to connect with family. Megan was focused on her health. Being an adoptee, she didn’t know her family&#8217;s<a href="https://www.23andme.com/dna-health-ancestry"> health history</a>. She wondered if there might be something in her genome she should know about.



Only after she got her reports did she become curious, and she didn’t see anything surprising in her health results. First, she realized she was less Irish and more French than she thought. And then there was this curious thing called DNA Relatives, which, like the name implies, could connect her with people with whom she shared DNA, essentially blood relatives. She opted in, but even then the significance of that didn’t quite register. The next day, she had a new “DNA Relative Match.”



She figured it was just some very, very distant cousin. “Whatever,” she thought.



But she logged in anyway.



“At the top of the matches was a half-sister,” she said.



She was stunned.



“Wow, an instant sister,” she thought as the blood drained from her face.



<h2 class="wp-block-heading" id="h-is-she-alive">Is She Alive?</h2>



There are moments when she tells her story that Megan has to stop herself, and her smiling and positive demeanor cracks a bit, and the tears flow.



“It still makes me cry,” she said recalling the moments that altered her life so dramatically a few years ago.



She eventually put it down in writing.



“It’s amazing what raw emotion can do for someone’s creativity,” Megan said.



That moment when she learned that she had a half-sister, Megan felt shocked, and in a heat haze of emotion, she quickly composed a message, asking the question she’d wondered about her whole life.



&#8220;I think I’m your sister,” she said by way of introduction. “If this is too much for you, I understand. But can you tell me if our mom is still alive?&#8221;



<h2 class="wp-block-heading" id="h-wrapped-up-in-their-arms">Wrapped Up in Their Arms</h2>



Megan expected the answer was “No.”



She braced herself for that answer and then began to question herself. Did she say the wrong thing? Was it too soon to ask? She didn’t have to wonder too long because her half-sister, Sarah, came back with a loving response.



“She’s alive and well and living in Prescott AZ!” her sister wrote.



Not only does Megan have a half-sister, but a half-brother as well. And they both knew that they had another sister out there somewhere. Their mom had told them about Megan, and they’d all hoped one day they’d find each other. Again stunned, Megan quickly sent her sister her contact information and asked that she pass it on to their mom.



“After tapping send, I dropped my phone and fell to the ground … It was as if my bones and muscles couldn’t hold me up,” she said,



Home alone, she collapsed on the floor. Through her tears she picked up her phone and texted her husband and daughter, who were out hiking. She needed them.



Her daughter responded.



“We’re on our way now.”



When they arrived, her husband and daughter wrapped her up in their arms and the three of them cried together.



<h2 class="wp-block-heading" id="h-a-familiar-voice">A Familiar Voice</h2>



The emotion of that day drained her to the point of exhaustion. And that night Megan fell into a deep sleep.



But in the morning, all that emotion came roaring back with the realization that her mom was still alive, and mixed in with that were a confusing set of emotions of both joy and fear, excitement and anxiety. Mixed in with all of it was confusion over what it might mean. There was nothing for her to do but wait, so Megan did what she did most days. Dropped her daughter off at school, and then went to the gym. It was there that the call came in from Prescott. She moved to a place where she had some privacy and answered her phone.



“I hear her voice and I swear it’s familiar,” Megan said. “It’s a calm, sweet, loving salve to my heart. We speak for close to an hour and a half. It’s effortless. An instant connection between mother and child.”



<h2 class="wp-block-heading" id="h-anxious">Anxious</h2>



Megan had questions, so many questions, but her mom had just one at first. She wanted to know about the baby girl she gave up and asked:



“Did you have a good life?”



She told her about her parents and how wonderful they both were, and her brother, and her husband and daughter. Yes, she had a good life. And then her mom asked her whether or not Megan suffered from anxiety. That question resonated immediately. It was something that Megan struggled with and she didn’t like to share. Her parents were just so solid and giving that she felt that confiding in them about her anxiety was somehow selfish. But when she told her birth mother that yes she did struggle with anxiety. She got a healing response.



&#8220;We all do too,” her mom told her.&nbsp;



“It released in me 48 years of feeling it was all my fault,” Megan said.



It was just something that ran in the family. The call was healing for Megan, and she felt it was healing for her birth mom to learn that she’d made the right decision and that her daughter was loved so strongly by her family. She felt this circle of gratitude inside her for her parents, her birth mom, and the chance to find each other after all these years.



<h2 class="wp-block-heading" id="h-an-embrace">An Embrace</h2>



It was hard to hang up the phone after that first call, and each day after that, the two texted or phoned. They made plans for her mom to visit and then counted down the days.



“On the day of her arrival, my nerves are on edge,” Megan said.



Waiting at home for her arrival, she had to do something to calm herself.



“I distract myself with a run,” she said. “I make a sign to welcome her. I obsessively crunched on hard candy.”



Then, waiting with her husband and daughter on the front stoop, Megan sees a black town car approaching the corner. It’s a moment she’s imagined all her life, and goosebumps cover her body.



“I can hardly breathe, and my heart is pounding so hard that I can feel it in my toes,” she said. 



As the driver flings open the door, the two run toward each other, and they embrace in the driveway with full-throttle sobs. It was a long, long time before they let go.



“What did we do to get so lucky?” Megan said.



<h2 class="wp-block-heading" id="h-mother-s-day">Mother’s Day</h2>



After her mom died 13 years ago, Megan simply couldn’t handle Mother’s Day. Her mom had been so amazing and loving, and she missed her deeply. It was easier to let that day pass and not think about it. It took almost five years to get over that.



She still misses her, but over the years, the pain of that loss lessened, and she had a daughter of her own. And then this miracle happened.



Since her birth mom’s visit, during which they spent a week together talking, cooking, and hiking, the two have slid seamlessly into each other’s lives. They continue to text and call and have seen each other three times. Megan has met her half-sister, whom she loves. Mother’s Day has taken on a new relevance for Megan.



“We always talk on Mother’s Day! After my amazing (adopted) mom died, I didn’t celebrate Mother’s Day for almost 5 years,” Megan said. “It was too painful. But now, since finding my birth Mom, it’s a full celebration again. “



If not for the pandemic, the family would be together this Mother’s Day, too. But it will only be a matter of time before they can visit together again, Megan said.



Among the many blessings from this whole experience, were the words Megan heard from her father, who best summed up her story.



“The two of you no longer walk with holes in your hearts,” he told her. “They are now fully healed and filled with love.”



<figure class="wp-block-embed aligncenter is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"><div class="wp-block-embed__wrapper">
<iframe loading="lazy" title="Megan McCarthy Meets Her Mom" width="500" height="281" src="https://www.youtube.com/embed/Z0sGhs-6fok?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
</div></figure>

Mother’s Day Miracle

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.

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