23andMe recently added a new report on pyruvate kinase (PK) deficiency, a rare genetic disorder that can result in chronic anemia and other serious complications.*
This new Carrier Status report looks at one variant in the PKLR gene linked to PK deficiency. The inherited condition is autosomal recessive, meaning that a person must inherit two variants in the PKLR gene, or two copies of a variant (one from each parent), to develop the condition.
The report is meant to offer customers an opportunity to learn about their family’s potential risk for PK deficiency, while also raising awareness about this rare <a href="https://www.23andme.com/dna-health-ancestry">inherited condition</a>.
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 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="915" height="513" src="https://blogcms.23andme.com/wp-content/uploads/2021/03/PKLR.jpg" alt="" class="wp-image-28808" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/03/PKLR.jpg 915w, https://blogcms.23andme.com/wp-content/uploads/2021/03/PKLR-300x168.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/03/PKLR-768x431.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/03/PKLR-880x493.jpg 880w" sizes="auto, (max-width: 915px) 100vw, 915px" /></figure>
 
<h6>More About PK Deficiency</h6>
The PKLR gene contains instructions for making the PK enzyme, which is found mostly in red blood cells and liver cells. This enzyme is crucial in breaking down glucose and producing adenosine triphosphate (ATP), the main energy source for the human body. Certain variants in the PKLR gene can disrupt the <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-300x300.png" alt="" class="alignright size-medium wp-image-25119" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2017/03/dna_dot_variant_pink.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />function of the PK enzyme, leading to the premature destruction of red blood cells, and ultimately a type of anemia called hemolytic anemia. <a id="f1" href="#a1">[1,2]</a>
Along with chronic anemia, the other symptoms associated with PK deficiency may include fatigue, jaundice, enlarged spleen, iron overload, and gallstones. <a id="f1" href="#a1">[3,4]</a> While there is no known cure for the condition, treatments for some of the symptoms include blood transfusions, medications to remove excess iron from the blood, and removal of the spleen and gallbladder.<a id="f1" href="#a1">[3,4]</a> Medications that increase the activity of the PK enzyme in red blood cells are also in development, as a way to treat the underlying cause of the condition. <a id="f5" href="#a5">[5]</a>
Because the symptoms of PK deficiency can vary widely and are sometimes mild, the condition may remain undiagnosed or misdiagnosed. <a id="f1" href="#a1">[1,2]</a> PK deficiency is found in people of many ethnicities, and it’s estimated that the condition affects about 1 in 20,000 people of European descent.<a id="f2" href="#a2">[2]</a>
<h6>23andMe’s New Report</h6>
23andMe’s new Pyruvate Kinase Deficiency Carrier Status report* tests for one variant linked to PK deficiency. However, there are more than 300 variants in the PKLR gene linked to the condition.<a id="f1" href="#a1">[3,6]</a> This means that customers who receive a &#8220;Variant not detected&#8221; result could still have a variant not covered by the test. Because the condition runs in families, 23andMe’s new Pyruvate Kinase Deficiency Carrier Status report gives customers an opportunity to learn more about their chances of passing a variant on to their children. For customers with a variant detected, if their partner is also a carrier for PK deficiency, each child has a 25 percent chance of having the condition. In some cases, customers may also learn that, based on their genetic result, they are at risk of developing symptoms of PK deficiency. This in turn gives them a chance to discuss the condition with their healthcare provider, and learn about potential next steps. It is important to note that 23andMe reports are not intended to diagnose any health conditions or to determine the appropriate treatment.
Because of its own commitment to raise awareness about PK deficiency, Agios Pharmaceuticals supported the development of this report. The company, a leader in the development of treatments for cancer and rare genetic diseases, has worked for many years on treatments for PK deficiency, developing a deep understanding of the impact the condition has on patients and their families. The company’s team of scientists, researchers, and patient advocates offered important insight into our development of this report.
The Pyruvate Kinase Deficiency Carrier Status report is available to 23andMe Health + Ancestry customers who are genotyped on 23andMe’s V5 chip. 
*The 23andMe PGS test uses qualitative genotyping to select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. The Pyruvate Kinase Deficiency carrier status report is indicated for the detection of the R486W variant in the PKLR gene. The report can tell you if you have two copies of the R486W variant, and if you are at risk of developing symptoms of pyruvate kinase deficiency, but does not describe your overall risk of developing symptoms.
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<h6 class="footnotes">References:</h6>
<footer class="footnotes"><code></code><code></code> <code style="display: none;"> </code><code> </code><a id="f1" href="#a1">[1]</a> National Organization for Rare Disorders (NORD). &#8220;Pyruvate Kinase Deficiency.&#8221; Retrieved Oct 27, 2020 from <a href="https://rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/">https://rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/</a></footer>
<footer class="footnotes"><code></code> <a id="f2" href="#a2">[2]</a> MedlinePlus. &#8220;Pyruvate Kinase Deficiency.&#8221; Retrieved Oct 27, 2020 from <a href="https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/">https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/</a>. </footer>
<footer class="footnotes"><a id="f3" href="#a3">[3]</a> Bianchi P et al. (2019). &#8220;Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.&#8221; Am J Hematol. 94(1):149-161. <a href="https://pubmed.ncbi.nlm.nih.gov/30358897/">https://pubmed.ncbi.nlm.nih.gov/30358897/</a></footer>
<footer class="footnotes"><code> </code><a href="#a4">[4]</a> Grace RF et al. (2018). &#8220;Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.&#8221; Blood. 131(20):2183-2192. <a href="https://pubmed.ncbi.nlm.nih.gov/29549173/">https://pubmed.ncbi.nlm.nih.gov/29549173/</a></footer>
<footer class="footnotes"><code style="display: none;"> </code><code> </code><a href="#a5">[5]</a> Grace RF et al. (2019). &#8220;Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.&#8221; N Engl J Med. 381(10):933-944. <a href="https://pubmed.ncbi.nlm.nih.gov/31483964/">https://pubmed.ncbi.nlm.nih.gov/31483964/</a></footer>
<footer class="footnotes"><code style="display: none;"> </code><code> </code><a href="#a6">[6] </a>Bianchi P et al. (2020). &#8220;Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.&#8221; Am J Hematol. 95(5):472-482. <a href="https://pubmed.ncbi.nlm.nih.gov/32043619/">https://pubmed.ncbi.nlm.nih.gov/32043619/</a><a id="f=6" href="#a6"> 
 
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23andMe Blog

23andMe Blog Team

A New 23andMe Report on Pyruvate Kinase Deficiency

Millions of 23andMe customers in the United States have some Irish ancestry, and because March is <a href="https://www.whitehouse.gov/briefing-room/presidential-actions/2021/03/01/a-proclamation-on-irish-american-heritage-month-2021/">Irish-American Heritage Month</a>, we’re again sharing something we looked at not too long ago about where in Ireland their ancestors called home.
We learned that although Irish immigration peaked in the U.S. in the mid-19th century, many of the connections we found were much more recent. To more closely examine those connections, we looked at how many customers in the United States reported having Irish grandparents. Then we asked those customers where in Ireland their grandparents called home.
<h6>Where in Ireland</h6>
Most reported connections to the counties of Cork, Mayo, or Galway in The Republic of Ireland. Others also had grandparents from the cities of Belfast and Dublin. Belfast is the largest city in Northern Ireland, while Dublin is the biggest in the Republic of Ireland.
The darker the shading on the map below, the more customers who report grandparents from that region.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="461" height="512" src="https://blogcms.23andme.com/wp-content/uploads/2020/03/ireland.png" alt="" class="wp-image-28129" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/ireland.png 461w, https://blogcms.23andme.com/wp-content/uploads/2020/03/ireland-270x300.png 270w" sizes="auto, (max-width: 461px) 100vw, 461px" /></figure>
 
<h6>Coming to America</h6>
As a result of the Irish potato famine between 1845–1849, Ireland experienced a sustained <a href="https://www.irishtimes.com/culture/heritage/great-famine-s-impact-illustrated-by-interactive-map-1.3428848">exodus</a> of people — and to date, the island’s population has not recovered to pre-famine numbers. 
Many of those immigrants wound up in the United States, but what is interesting is that our data showed patterns of recent Irish ancestry that mimicked historical patterns of migration to the United States.
So 23andMe researchers dug a little deeper. We did this by looking at data from customers with grandparents from Ireland. Sure enough, we saw higher concentrations of people with recent Irish ancestry in the Northeast, particularly New York, Massachusetts, and Connecticut.  Mapping that data we saw more clearly where in the United States many of these immigrants wound up. (See Census map from 2019 below that aligns with our own look at the distribution of where people with Irish ancestry live.)
<img loading="lazy" decoding="async" class="size-full wp-image-26929 aligncenter" src="http://35.88.189.111/wp-content/uploads/2019/03/irish-american.jpg" alt="" width="612" height="648" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/03/irish-american.jpg 612w, https://blogcms.23andme.com/wp-content/uploads/2019/03/irish-american-283x300.jpg 283w" sizes="auto, (max-width: 612px) 100vw, 612px" />
The data also showed fewer individuals with recent Irish ancestry in the Deep South and the Southwest. It’s important to note that this is not mapping genetic ancestry. Rather it is looking at concentrations of where people who reported having grandparents that were born in Ireland currently live.
While this data was not the most surprising to our population geneticists, what’s interesting is that the state-wide segmentation mirrors U.S. Census data on reported Irish ancestry. It also aligns with long-established patterns of where Irish immigrants have settled since first arriving in the country. Certain communities, like Plymouth County south of Boston Massachusetts, have higher concentrations of people with Irish ancestry in the country, <a href="https://www.census.gov/newsroom/facts-for-features/2019/irish-american-month.html">according to the U.S. Census Bureau</a> 
<h6>Studies of Irish Ancestry reveal unexpected connections</h6>
In a number of recent studies (<a href="https://www.ncbi.nlm.nih.gov/pubmed/29370172">7</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/29222464">8</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/20571510">9</a>), researchers identified distinct genetic clusters within the island of Ireland. While Irish people tended to be genetically similar to each other, there were a few regional differences the study was able to identify within the DNA.  
For example, southern Ireland was the most genetically distinct from the rest of the island, followed by Northern Ireland and central Ireland (which split rather unexpectedly into a northern half and a southern half).  
Why unexpected?  
Historically, there were four traditional Irish provinces: Ulster in the North, Munster in the South, Connacht in the West, and Leinster in the East. According to the DNA, It seems that people migrated between East and West in Central Ireland over time, obscuring some of these traditional borders.  

 <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/2020/03/Orkney.png" alt="" class="wp-image-28130" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/Orkney.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/Orkney-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
<h6>Why “British &amp; Irish” ancestry peaks in Ireland</h6>
Our own researchers were able to explore the impact of ancient and historical migration from mainland Europe into the British Isles (<a href="https://www.ncbi.nlm.nih.gov/pubmed/26712024">1</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/26783717">2</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/15309688">3</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/29466337">4</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/26783965">5</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/12082121">6</a>). There are clear geographic differences in our customers’ average ancestry percentages. Customers with four grandparents born in Ireland tend to have more British &amp; Irish ancestry than customers with four grandparents born in Great Britain.
You can clearly see that French &amp; German ancestry reaches over 25% in England’s Southeast, where British &amp; Irish ancestry hovers around 50%. Compare that to more than 90% British and Irish ancestry in western Ireland, or more than 75% in western Wales and northern Scotland. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="313" src="https://blogcms.23andme.com/wp-content/uploads/2020/03/British-Irish-French-German.png" alt="" class="wp-image-28131" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/British-Irish-French-German.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/British-Irish-French-German-300x183.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
<h6>What’s the “Celt Belt” and where did Celtic languages come from? </h6>
Celtic languages and culture first appeared in Central Europe, extending from the British Isles to the Black sea by the 3rd century BCE. But, the rise of the Roman Empire spelled the downfall of a Celtic-speaking Europe. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="276" src="https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-expansion.jpg" alt="" class="wp-image-28132" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-expansion.jpg 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-expansion-300x162.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
Today, while Celtic languages can only be found along the “Celtic Fringe” or the “Celt Belt” along the far western periphery of their former territory, Celtic cultural heritage remains deeply meaningful to millions of people around the world.

 <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/2020/03/celtic-fringe.png" alt="" class="wp-image-28133" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-fringe.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-fringe-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
<h6> </h6>
<h6>Genetic Origins of the “Celtic Curse”</h6>
Bagpipes, intricate metalwork and red hair are often associated with Celtic heritage, but less familiar is the link between “Celtic-like” ancestry and hereditary hemochromatosis. Hemochromatosis is a condition characterized by the absorption of too much dietary iron, which can cause damage to the joints and certain organs.
Today, the DNA variants associated with this condition are common in Ireland, leading to the nickname, “The Celtic Curse,” as it’s commonly known in the scientific and hemochromatosis communities. However, most evidence points to a central European origin of the most common variant (HFE C282Y), which was likely carried to the British Isles thousands of years ago and further spread by medieval Viking migrations. Some scientists have proposed that the C282Y variant may have protected our farming ancestors from iron-deficient diets, but the evidence for this “protective” role is limited.

 <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/2020/03/HH.png" alt="" class="wp-image-28134" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/HH.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/HH-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
 
If you’re a Health + Ancestry customer, your Hereditary Hemochromatosis (HFE-related) report is available <a href="https://you.23andme.com/reports/ghr.hemochromatosis/">here</a>.
(See references <a href="https://www.ncbi.nlm.nih.gov/pubmed/9836708">10</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/15290237">11</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/12972035">12</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/10953956">13</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/12791037">14</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/10657371">15</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/11159767">16</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/9783719">17</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/16920278">18</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/14740507">19</a>).

Where 23andMe Customers’ Irish Ancestors Lived, And More

Many of us are almost as afraid of standing up and talking in front of a room full of people as getting<a href="https://www.chapman.edu/wilkinson/research-centers/babbie-center/_files/americas-top-fears-2019.pdf"> attacked by a shark</a> or murdered by a stranger.
While the odds are slim to none, the angst around public speaking is very real. About a quarter of Americans report having a fear of public speaking. If you assumed that simply doing all your talking remotely via Zoom would remove the fear, the last year would tell you otherwise. For some, the intimacy of Zoom actually makes the whole experience that much more<a href="https://theconversation.com/anxious-about-speaking-in-online-classes-and-meetings-here-are-7-tips-to-make-it-easier-144121"> unnerving</a>.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2-300x252.jpg" alt="" class="alignright size-medium wp-image-27146" width="300" height="252" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2-300x252.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/06/Fear-of-Public-Speaking-2.jpg 540w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Glossophobia
Genetics plays a small part in a person’s fear of public speaking, also known as<a href="https://www.psycom.net/glossophobia-fear-of-public-speaking"> glossophobia.</a> There isn’t a similarly long Greek-derived word to cover “fear of video chat,” but they both boil down to the same type of anxiety, and they both include symptoms like sweating, rapid heartbeat, and nausea.
23andMe reports on a person’s likelihood of having a fear of public speaking. Using a statistical model and data from more than 870,000 23andMe research participants, our scientists have identified more than 800 genetic markers associated with a fear of public speaking. Using those genetic markers together with non-genetic factors we developed a statistical model to estimate the likelihood of having a fear of public speaking. Among the non-genetic factors, we looked at are such things as age and sex.
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 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="681" src="https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-1024x681.jpg" alt="" class="wp-image-27145" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-1024x681.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-880x585.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking-1180x784.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/06/fear-of-public-speaking.jpg 1256w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6></h6>
<h6>Mic Check</h6>
The report is among more than 30 interesting Trait reports available to<a href="https://www.23andme.com/dna-health-ancestry"> 23andMe Health + Ancestry Service</a> customers. These reports often spark curiosity and allow customers to explore more about the science and garner fun genetic insights of their own. Most recently we added reports on<a href="https://blog.23andme.com/health-traits/23andme-steps-out-with-two-new-trait-reports/"> Bunions and Flat Feet</a>, and have others on such things as<a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/"> Mosquito Bite Frequency</a> and<a href="https://blog.23andme.com/health-traits/itching-to-see-23andmes-new-trait-reports/"> Fear of Heights</a>.
Fear of public speaking doesn’t present any serious health consequences, it can hamper career advancement or your speech at your best friend’s wedding. It’s linked to our natural fight or flight response. Understanding the biology may offer insights into other anxiety-related conditions. About 43 percent of 23andMe customers participating in research report having a fear of public speaking. Fortunately, there are plenty of ways to<a href="https://www.psycom.net/glossophobia-fear-of-public-speaking#actionsteps"> overcome a fear of public speaking</a>.
Before their next<a href="https://www.toastmasters.org/"> Toastmaster</a> mic check, 23andMe Health + Ancestry customers can check out their  Fear of Public Speaking Report. Just go to your<a href="https://you.23andme.com/health/trait/"> Traits dashboard</a>.
Not yet a customer? Head over<a href="https://www.23andme.com/compare-dna-tests/"> here</a> and learn more.

Fear of Public Speaking

Pre-pandemic, <a href="https://www.cdc.gov/heartdisease/facts.htm">heart disease</a> kills more Americans than any other condition each year. So understanding your risks for heart disease and learning how to mitigate them is a good first step toward prevention.
Heart disease itself is really several different conditions but the most common is coronary artery disease which develops due to a build-up of plaque that narrows your arteries and restricts blood flow. Over time, this can affect your heart&#8217;s rhythm, damage your heart muscles, obstruct blood flow, and put you at a higher risk of heart attack or stroke.<img loading="lazy" decoding="async" class="alignright wp-image-28529 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-160x300.png" alt="" width="160" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-160x300.png 160w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-545x1024.png 545w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-768x1444.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-468x880.png 468w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-628x1180.png 628w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1.png 982w" sizes="auto, (max-width: 160px) 100vw, 160px" />
<h6>A Healthy Heart</h6>
The best recipe for a healthy heart is eating right, exercising, and maintaining a healthy weight. But understanding other underlying risks for heart disease is also important. Your family&#8217;s health history, age, and ethnicity can all play a role in your risk for heart disease. Taking healthy actions to lower blood pressure, cholesterol, and blood sugar can help reduce your risk.
23andMe’s Health + Ancestry Service offers several reports that look at heart-related conditions, including reports on familial hypercholesterolemia (FH), TTR-related hereditary amyloidosis, and type 2 diabetes (powered by 23andMe research).* 
<h6>Going Deeper</h6>
But for customers who want to go deeper, we also offer <a href="https://blog.23andme.com/articles/23andmeplus">23andMe+ Premium</a>, an annual membership with 10+ exclusive reports and features delivered to you throughout the year‡. Among those reports and features, there are reports powered by 23andMe research on a <a href="https://blog.23andme.com/health-traits/heart-health/">number of heart-related conditions</a>, including atrial fibrillation, coronary artery disease, high blood pressure, and LDL cholesterol.
Just added to that list is a 23andMe+ Premium report on Triglycerides — a type of fat, or lipid, that the body uses to store energy from food for future use. High triglyceride levels are associated with an increased likelihood of developing heart disease, stroke, and sometimes pancreatitis.
<h6>Triglycerides Report</h6>
The 23andMe+ Premium Triglycerides report is powered by a statistical model using data from millions of 23andMe customers who consented to participate in research. Unlike Genetic Health Risk reports* that use a few variants known to have a large impact on risk-based on external studies, the report, powered by 23andMe research, creates a polygenic score that includes more than 4,000 genetic markers to estimate the likelihood of developing high triglyceride levels. Having high triglyceride levels is defined as 150 milligrams per deciliter (mg/dl) or more. The model also takes into account a customer&#8217;s ethnicity and sex. The report does not diagnose high triglycerides. If you are concerned about your likelihood of developing high triglycerides, or have questions about your report, consult with a healthcare professional.
Many people in the U.S. develop high triglycerides levels, but because there are typically no symptoms many remain unaware that their levels are elevated. Most people only learn that they have an issue because they’ve had a lipid panel done, so learning about an increased genetic likelihood could start a conversation with a doctor and spur action to lower their chances. Healthy lifestyle habits can help lower triglycerides and reduce the risk of heart disease or stroke. Those actions include maintaining a healthy weight, avoiding sugary foods, and replacing saturated fats in your diet with healthier unsaturated fats. Those are fats from vegetable oils, nuts, and fish, for example. It&#8217;s also recommended to limit alcohol consumption. Also, regular exercise — 30 minutes of moderate to vigorous exercise on most days of the week — can go a long way toward <a href="https://www.cdc.gov/physicalactivity/basics/pa-health/">maintaining heart health</a>.
Find out more about 23andMe&#8217;s Health + Ancestry Service or 23andMe+ Premium membership go <a href="https://www.23andme.com/dna-health-ancestry?sub=ver2&amp;cabt=nao">here</a>.
<hr />
*23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info/.
‡ 10+ reports and features will be added annually from January to December.

An illustration of a heart for heart health

Heart Disease and Triglycerides, A New 23andMe+ Premium Report

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

Western Wildfires Increased Asthma Attacks in 2020   

Jordan Carroll, a social worker and patient advocate in San Diego, has a simple answer for why he’s participating in 23andMe’s <a href="https://blog.23andme.com/23andme-research/black-representation-in-research/">Black Representation in Genetic Research</a> study:&nbsp;
“I was happy to … I mean why not?” said Jordan, who has been contributing to 23andMe research since the launch of the company’s<a href="https://www.23andme.com/roots-study/"> Roots into the Future</a> initiative in 2011.
Jordan is no stranger to us here at 23andMe, having shared a healing<a href="https://www.youtube.com/watch?v=akc6tbW8aOg&amp;feature=emb_logo"> personal story</a> many years ago. Using 23andMe helped him discover a connection to a plantation in the south, and led him to connect with a white cousin.&nbsp;
But Jordan’s interest runs deeper than that. Wrapped up in his curiosity about himself and his family’s southern and African roots, is his lifelong interest in science, healthcare, and, most importantly, racial equity.
“My inspiration for giving my DNA to this research was to benefit marginalized Black Americans,” he said.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="768" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984-768x1024.jpg" alt="" class="wp-image-28784" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2021/02/IMG_1984.jpg 1536w" sizes="auto, (max-width: 768px) 100vw, 768px" /></figure>
 
<h6></h6>
<h6>A Family&#8217;s Commitment 
</h6>
Jordan, 34, hopes that including more people like him in research, offers hope that new discoveries from that research will mean that, “the Black community will have access to better healthcare and treatment.”&nbsp;&nbsp;
He and his family have been working for that kind of equity for a long time.
Both of his paternal grandparents were doctors. His grandmother,<a href="https://www.uncrownedcommunitybuilders.com/person/juanita-carroll-pitts"> Dr. Juanita Pitts</a>, was the first Black female doctor in Rochester New York. Dr. Pitts and her husband, Dr. Julian O. Carroll, opened a family practice in the city in the 1950s. Over the decades while raising seven children and running the family practice, Dr. Pitts also worked on community health screening for sickle cell anemia and did genetic counseling. She started a program to screen African Americans in the community for hypertension and cardiovascular disease. Her strong commitment to serving the community and alleviating racial inequities in healthcare came from witnessing those inequities. In a recorded oral history, she told of once seeing a Black man die while waiting for a hospital bed that had been prioritized for white patients.&nbsp;
Dr. Pitts instilled in her grandson an interest in science and equity, and Jordan’s early years spent in her home left a lasting impression on him. Whether it was learning to take his own blood pressure at 10, or simply understanding that African Americans didn’t always benefit from the amazing medical breakthroughs he’s seen in his lifetime. His upbringing is what both piqued his interest in medicine but also attuned him to helping underserved populations.
He sees those disparities every day at work among underserved Latino and Black families in Southern California — who have been disproportionately affected by COVID-19. Part of his work is to ensure access to vaccination programs and testing. But some of it also involves simple education in an effort to overcome long-held mistrust.
“I see it as my job to educate and dissipate the mistrust and skepticism of the American medical establishment within the Black community,” he said. “These feelings are rampant, and rightly so, due to historic and contemporary mistreatment at the hands of the medical establishment, namely the Tuskegee Experiments, which is still within living memory.”
<h6>Empowerment through Participation</h6>
He doesn’t see his job to push anything, but to simply answer questions, to be transparent about any risks, and help people have access to care if they want it.
But beyond his work, Jordan feels he can help his community by participating in research. He knows — because he likes to read about health studies — that most genetic research is done in populations that are almost entirely of European descent.
When he’s reading about a new study that has uncovered genetic associations for certain diseases, Jordan often asks himself:
“Does this actually apply to me?” he said. “I have European ancestry, but it’s only about one-third of my <a href="https://www.23andme.com/dna-ancestry">genetic ancestry</a>, the rest, 60 percent of African, so I ask myself, ‘Is this applicable to me and people who are genetically similar to me, or not?’”
Oftentimes the answer is “no.”
Knowing that can leave one feeling unable to do anything to change it, Jordan said.
“Feeling powerless is a common sentiment when you read reports, studies, and hear of racial disparities and maltreatment within the American medical establishment,” he said. “You hear of communities having unequal access to health and medical care all around the country. Although your frustration burns, you fall into despair since you realize that you cannot go in and assist every community at once.”
But, for Jordan, there is something he can do. He can participate in research, he said.
“The ability to potentially save lives is a privilege, and something that I feel is my duty as a human being,” he said. “If I can do this with something as simple as having my DNA tested, all the better.&#8221;

Participating for Better Equity in Research

By L. Okey Onyejekwe Jr., MD, JD,  23andMe’s Vice President of Healthcare Operations and Medical Affairs
Why did we need a separate month for Black history? I’ve answered this question many times and heard it asked many times more. At its most innocuous, it’s a silly question. Yet it&#8217;s a dangerous one regardless of intent. For one, the health disparity data points that I’ll be reflecting on below—sobering by any account—won’t surprise you. You know them, at the very least by implication. Black people between 18 and 50 are two times more likely than whites to die from heart disease, and Black children are eight<a href="https://minorityhealth.hhs.gov/omh/browse.aspx?lvl=4&amp;lvlid=15"> times more likely</a> to die from asthma, etc.
I couldn’t shock you with the data even if I delivered it with lightning. Indeed, the implications of this question go far beyond “history.” So rather than trying to wow you with sobering statistics, or dignify the question with an answer, I thought I’d share why I’m unusually hopeful as we conclude this Black History Month.
<h2>A Reservoir of Hope</h2>
The perspectives I share here are those of a healthcare provider who happens also to be Black. Being Black in America requires drawing on an endless reservoir of hope of what could be, and not what is.
So hope is not new for me, even though the events of the past year tested that outlook. I saw a Black man murdered by police officers—his agonizing transition from a full life all the way to death captured on camera for eternity. I cried because he’s a son, and I have sons. I raged because it happened again, and I told you—we all have been telling you—that it would. But mostly I despaired at the fact that I know—we all know—that justice will not be served once again. That’s always the most painful part.
Then there was the Black man killed by white racist civilians for JWB (jogging while black). The killers got to go home and have dinner with family that evening, no questions asked, and for months afterward. And of course, there was the young woman, murdered by police in her own home. She’ll never get to write about her own experience as a Black healthcare professional. As always, no one will face justice for it. And there was so much more.
So how is it possible that I have any hope as a father of a boy who’s so full of life, another boy who loves running, and a daughter who too aspires to be a healthcare professional?

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="384" src="https://blogcms.23andme.com/wp-content/uploads/2021/02/Okey-and-kids-at-BLM-march.png" alt="" class="wp-image-28781" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/02/Okey-and-kids-at-BLM-march.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/02/Okey-and-kids-at-BLM-march-300x225.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
<h2>An Inflection Point?</h2>
None of this was new to me, to us. The shock, if there was any, didn’t come from us. We’ve been crying out loud over this type of injustice for years. But in 2020, at least for a moment, it seemed like other people cared.
Will it last?  We did see that racism was <a href="https://www.ama-assn.org/delivering-care/health-equity/ama-racism-threat-public-health">finally recognized by the AMA</a> and other organizations as a public health threat for the first time ever.  The policy acknowledges that “the primary drivers of racial health inequity are systemic and structural racism” and that “racism and unconscious bias within medical research and health care delivery have caused and continue to cause harm to marginalized communities and society as a whole.” To one desperate to nail down a foundation on something hopeful, this was a hammer. A tool. Something I can actually build with.
Of course, there was another pandemic in 2020, also with disproportionate effects, killing Black people at <a href="https://covidtracking.com/race">1.6 times the rate of white people</a>. Research from 23andMe, the company where I work, found that Black customers who consented to participate in our research are <a href="https://blog.23andme.com/23andme-research/impact-disparities-of-covid-19/">80 percent more likely</a> than whites to be hospitalized from COVID-19. Beyond that, Black and other underrepresented communities are also much less likely to be included — or are much less willing to participate — in health research. That includes the <a href="https://www.nejm.org/doi/full/10.1056/NEJMp2021971">most recent clinical trials</a> for COVID-19 vaccines.
This kind of disparity is more than just the problem of Black people. It’s a recognized public health problem. In fact, it’s an unacceptable deviation from the standard of care.
<h2>Taking Action</h2>
The significance of this shift cannot be overstated. Even before the pandemic, there were concerted efforts to take action.
The National Institutes of Health&#8217;s <a href="http://allofus.nih.gov/">All of Us</a> Precision Medicine Initiative is recruiting a million Americans, particularly from underrepresented communities, for genetic health research. The Veteran&#8217;s Administration&#8217;s <a href="https://www.research.va.gov/mvp/">Million Veterans Program</a> is doing much the same.
23andMe has spent more than a decade focused on diversifying its research database to improve our study of diseases like Parkinson’s, within all populations. While we still have a long way to go, 23andMe now has one of the largest, if not the largest, groups of African Americans consented to participate in genetic research in the world. But these types of efforts can no longer be optional outliers. They must indeed become the norm if they are to be within the standard of care.
These efforts and others will lead to new insights into human biology, better and more equitable clinical care, and improved outcomes for everyone. But we still have so much more work to do. At 23andMe we pledged to <a href="https://www.23andme.com/black-lives-matter">hold ourselves accountable</a> to make improvements to ensure our people, products, and practices are more diverse, equitable, and inclusive.
It’s a pledge we could all make, especially right now. It amounts to doing more than just hoping for change. It means making a plan to change so that everyone benefits from the scientific insights we learn through research, and all of us have the chance for equitable healthcare.

Hope, Healthcare, and Black Lives

People who know Maurice Hayes know he&#8217;s passionate about science, healthcare, and prevention. It&#8217;s personal for him.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-32741" src="http://35.88.189.111/wp-content/uploads/2024/03/Maurice-Hayes-219x300.jpg" alt="" width="219" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/03/Maurice-Hayes-219x300.jpg 219w, https://blogcms.23andme.com/wp-content/uploads/2024/03/Maurice-Hayes.jpg 373w" sizes="auto, (max-width: 219px) 100vw, 219px" />
For three decades, he&#8217;s worked as an MRI technician in Atlanta, and almost every day, he sees people from all walks of life, all ages, and all ethnicities, who are there for one reason. They&#8217;re sick. And being a compassionate person, he can&#8217;t help but wonder:
&#8220;Why can&#8217;t we do more to find out how this could have been prevented?&#8221; Maurice asked.
Of course, lifestyle also plays a role, he said.
&#8220;I&#8217;m a big proponent of preventative medicine,&#8221; he said. &#8220;Some things could be dealt with through diet and exercise.&#8221;
But that&#8217;s not the whole story.
Part of staying healthy involves also knowing what your risks are for disease. Knowing that early gives you time to figure out &#8220;the best way to anticipate what is coming and have a plan,&#8221; Maurice said.
And that&#8217;s where science and research come in, he said. He believes that genetic research offers hope for finding the causes and cures for disease. That&#8217;s what attracted him to 23andMe, learning more about his ancestral roots, particularly his genetic connections to Africa.
There&#8217;s a lot of genetic research out there to be excited about already. And Maurice, who follows some of those developments, can see the potential. But he also knows that those breakthroughs don&#8217;t benefit everyone, mainly if you are Black. This is partly because most <a href="https://www.23andme.com/research/">genetic health research</a> is done in people of European descent.
&#8220;So when the studies are going on, most of these studies don&#8217;t include Black people,&#8221; Maurice said. &#8220;That means the data is just not there.&#8221;
The irony is that it is often people within the Black community who are hit the hardest by certain conditions. Yet, they are usually not well represented in studies of those conditions. So, of course, it&#8217;s personal. Maurice has had family members who&#8217;ve dealt with heart disease, lung disease, and cancer. Most recently, he had two close relatives die from COVID-related illnesses.
That&#8217;s why he&#8217;s participating in research, not just through 23andMe and its <a href="https://blog.23andme.com/23andme-research/black-representation-in-research/">Black Representation in Genomic Research</a> study — which aims to understand the biology connecting genetic variants to diseases — but also in the <a href="https://allofus.nih.gov/" target="_blank" rel="noopener">National Institutes of Health&#8217;s All of Us</a> study.
&#8220;There are not a lot of 50-something-year-old Black men who want to sign up to have their DNA checked because they&#8217;re too afraid of how that could be used in a bad way,&#8221; he said.
And there&#8217;s a reason for that. There&#8217;s some history. Still fresh in some people&#8217;s minds is the notorious <a href="https://www.cdc.gov/tuskegee/timeline.htm">Tuskegee Syphilis Study</a>. In the 40-year-long study, African American men with syphilis were left untreated for their illness so that researchers could watch the disease&#8217;s progression.
&#8220;When you say &#8216;Research&#8217; and &#8216;African Americans,&#8217; everybody puts in the horror stories,&#8221; Maurice said. &#8220;(That) is one reason they&#8217;re not doing well with vaccinations. (It&#8217;s) because there is a lack of trust.&#8221;
Winning back trust will be difficult, but it&#8217;s essential for the Black community to benefit from research, which is why he&#8217;s participating in it.
&#8220;I want to ensure that the data was more inclusive,&#8221; Maurice said. &#8220;It&#8217;s also personal to me because of my family history and some of the diseases that we have, and I wish there was more research in that area.&#8221;
But it&#8217;s not just about him and his family. Seeing sick people day in and day out who might benefit from new genetic research motivates his interest in participating in research.
&#8220;I wanted to inspire other minorities to get to know themselves better. Let&#8217;s seek out those points of intersection. Together, we create a beautiful tapestry to be celebrated for all its diversity. Let&#8217;s begin anew.&#8221;

Inspiring Others to Participate in Research

As part of 23andMe’s ongoing effort to improve diversity in biomedical research, we recently began work on our Black Representation in Genetic Research study. This study aims to understand the biology connecting genetic variants to diseases.
To support the study, 23andMe recruited just under 1,000 customers with African ancestry who consented to participate in the study. The project, supported with funding from GlaxoSmithKline (GSK), involves the sequencing of RNA and DNA to study the genetics of gene expression. These data are crucial for understanding the role of genetic variants identified through genome-wide association studies (GWAS) and how they may influence disease through changes in gene expression.
This effort is one of several 23andMe has undertaken over the last decade to help remedy research inequities. Currently, the 23andMe database includes one of the largest groups of people with African ancestry who have consented to participate in genetic research. Yet, there is still much work to be done. While the number of people of African descent participating in our research is large, it still pales in comparison to the numbers of people of European ancestry.
With more people of African ancestry participating in research our scientists will have more opportunities to find genetic associations relevant to this group and to translate genetic associations into insights meaningful to support the development of new therapies. In this case, RNA sequencing data from under-represented populations could help us connect or “map” a genetic variant that is associated with a disease to how that variant may or may not be relevant for the expression of a particular gene.
<h6>Everyone Should Benefit from Genetic Research</h6>
Part of 23andMe’s mission is to ensure that everyone — no matter their ethnicity — benefits from the insights derived from the human genome. We’re committed to that goal.
But it’s a fact that the Black community is dramatically underrepresented in <a href="https://www.23andme.com/dna-health-ancestry">genetic health</a> research, meaning they don’t equally benefit from insights gleaned from that work. That’s not acceptable to us.
We hope that improving diversity in our research and clinical trials will help accelerate scientific discoveries and medical treatments that have been informed by a more thorough understanding of diseases experienced by the Black community.
The Black Representation in Genetic Research (BRGR) program is another step we’re taking to address this problem.
<h6>Sequencing</h6>
For this study, 23andMe is extracting RNA from whole blood and sequencing it. We will also sequence consented study participants’ whole genomes using the saliva samples they originally submitted to 23andMe.
We’ll use this data to better understand “gene expression” — how a gene turns on or off and guides the translation of RNA into proteins. This kind of “functional data” will help scientists understand the connection between a variant identified in a GWAS and one of its nearby genes. Making that kind of connection is called “variant-to-gene mapping.” 
<h6>More Diverse Representation</h6>
One<a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30231-4"> estimate in 2018</a> found that 78 percent of genome-wide association studies contained data from people only of European descent, even for health conditions that disproportionally impact non-European populations. Sometimes the results from a genome-wide association study are relevant to all ethnicities, but not always. In those cases, researchers need to have more diverse data that are more broadly useful for people of all ethnicities.
That’s why over the last decade, 23andMe has taken steps to improve the diversity of our research. Whether it was through the<a href="https://www.23andme.com/roots/"> Roots into the Future Project</a>, or the<a href="https://www.23andme.com/africa-project/"> African Genetics Project</a>, or<a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/"> African American Sequencing Project,</a> <a href="https://www.23andme.com/global-genetics/">the Global Genetics Project</a>, as well as the <a href="https://research.23andme.com/populations-collaborations/">Populations Research Collaborations</a> program —  each project was meant to enhance the diversity in our research and our product.
<h6>Beyond 23andMe</h6>
This work has in turn helped not only to improve the diversity of our research but also the work of others.
The whole-genome sequence data from those who consented to participate in our African American Sequencing project — aggregated and de-identified — was made available for free to qualified researchers from academia or biotech labs through the Database of Genotype and Phenotypes (<a href="https://www.ncbi.nlm.nih.gov/gap/">dbGaP</a>). This is a repository sponsored by the <a href="https://www.nih.gov/">National Institutes of Health (NIH)</a>. The NIH’s dbGaP archives and distributes data from studies investigating the relationship of genotype and phenotype in humans.
In that same way, 23andMe will make available the RNA and whole-genome sequencing data from the Black Representation in Genetic Research — aggregated and de-identified — to qualified researchers, again using the NIH’s dbGaP.
By sharing the data with the broader biomedical community, 23andMe hopes to encourage others to work toward making significant discoveries that will benefit the Black community.
<h6>A Little History</h6>
We can’t talk about the lack of representation in genetic health research without talking about history, even when that history is unjust.
The effort to become more inclusive in genetic health research must overcome understandable distrust from communities that have in the past been abused in the name of science.
There are many examples but one of the most infamous and shameful was the<a href="https://www.cdc.gov/tuskegee/timeline.htm"> Tuskegee Syphilis Study</a>, which involved a 40-year study of African-American men with syphilis who were left untreated for their illness as a way to research the progression of the disease. Researchers never informed participants of what was happening, and never gave them an antibiotic that could have been used to treat them.
<h6>The Common Rule</h6>
Once the shocking mistreatment came to light federal regulators and ethicists came together to create what has become the foundation for ethics in research on humans. Known as “<a href="https://www.hhs.gov/ohrp/regulations-and-policy/regulations/common-rule/index.html">The Common Rule</a>,” the rules were codified for the protection of participants in biomedical research. Some of the core principles include voluntary informed consent, protection for potentially vulnerable populations, and protecting those research participants from harm.
That work also led to the creation of what are called Institutional Review Boards (IRBs), independent bodies that oversee research to ensure it adheres to ethical principles.
<h6>23andMe’s Ethical Approach to Research</h6>
Choice and transparency are fundamental to 23andMe’s research model, and our research program is overseen by an external IRB.
This represents a long-term commitment by 23andMe. Before we ever launched our participant-based research program, we worked early on with the Ethical, Legal, and Social Implications (ELSI) program of the <a href="https://www.genome.gov/">National Human Genome Research Institute </a>(NHGRI), which had been founded in 1990 as part of the Human Genome Project.
The ELSI program was created to identify and address issues that genomics research could trigger with regard to impacting people, families, and society. 23andMe scientists engaged with this community early on, which helped us understand the importance of building strong ethical guidelines and demonstrating our scientific rigor.
In 2009, to ensure we had third-party ethical oversight of our research, we approached an external ethics committee (also called an Institutional Review Board, or “IRB”) and worked together to create an entirely new model of research that both respects and protects our research participants as well as ensure that we have a clear and transparent informed consent for research participation. And we’ve now published over 170 peer-reviewed research papers that have been cited over 10,000 times. This ethics-driven approach has been behind our decision-making over the years.
As a part of our approach, we also work to share with those who participate in research any findings we make. In fact, we aim to make all of our publications accessible to anyone interested at no cost. For the BRGR study, we expect to be finished with the data analysis by this summer at which time we plan to share those findings with participants during a webinar.
The ultimate goal is to create a resource for scientists to better identify unique genetic determinants of disease and develop treatments to benefit the Black community.

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