23andMe recently launched a genetic study of<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> Idiopathic Pulmonary Fibrosis (IPF)</a>, a rare disease that results in scarring of the lungs and for which there is currently no cure.
<h6>Studying the Genetics of IPF</h6>
The hope is that this study will help generate genetic information offering new insight and potential treatments. This disease itself is particularly insidious. It results in scarring of the lungs (fibrosis), which in turn increasingly hampers the ability of the lungs to transport oxygen to other organs. This makes it difficult for those suffering from the disease to catch a breath.
This is the first genetic study 23andMe researchers have undertaken on a rare disease. A disease is deemed “rare” if it affects<a href="https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases"> fewer than 200,000</a> people in the United States. Often because a rare disease affects fewer people there is less market incentive to develop a treatment for these conditions. While individually these conditions are uncommon, there are more than 7,000 rare diseases that have been identified which impact an estimated 30 million people in the United States, according to the NIH. Research on these conditions has been historically limited and slow.
Like many rare diseases, genetics likely plays an important role in why some people develop IPF, and this is where the 23andMe research model could help. Through our study, people living with IPF can provide genetic information and invaluable insight that can bring us closer to future treatment discovery.
<h6>Eligibility</h6>
For 23andMe’s Idiopathic Pulmonary Fibrosis<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> research</a> our goal is to enroll 1,000 individuals with IPF. To participate in this study you must:
<ul>
<li>Have been diagnosed with IPF or Hermansky-Pudlak syndrome (HPS)*</li>
<li>Are 18+ years old</li>
<li>Live in the US</li>
</ul>
If you or someone you know is interested in learning about 23andMe’s study, click<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> here</a>.
*We are including participants with Hermansky-Pudlak syndrome in this study because the pulmonary fibrosis that can develop in these individuals is very similar to IPF. If a new treatment for IPF is developed as a result of this research, this treatment may also help individuals with Hermansky-Pudlak Syndrome.
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Illustration for Idiopathic Pulmonary Fibrosis

23andMe Blog

23andMe Blog Team

23andMe to Study Idiopathic Pulmonary Fibrosis

By Janie F. Shelton, Ph.D., MPH, Senior Scientist at 23andMe*
Black people and Latinos are disproportionately affected by COVID-19, according to new data from scientists at 23andMe.
23andMe’s data shows that African Americans, who tested positive for COVID-19, were almost twice as likely as whites to be hospitalized. Latinos had a slightly higher risk for hospitalization compared to whites.  When adjusted for age, sex, income, and other underlying health conditions, Black people are still 80 percent more likely to be hospitalized for COVID-19 than whites.
<h6>Stark Differences</h6>
Even after adjusting for those factors, 23andMe scientists still found stark disparities in both susceptibility and severity from the virus.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="317" src="https://blogcms.23andme.com/wp-content/uploads/2020/08/Hospitalizations.jpg" alt="" class="wp-image-28387" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/08/Hospitalizations.jpg 512w, https://blogcms.23andme.com/wp-content/uploads/2020/08/Hospitalizations-300x186.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
In other words, race and ethnicity still stand out as a significant risk factor for infection with COVID-19 as well as for the most severe symptoms that require hospitalization. The preliminary data on people of other underrepresented communities also raises concerns, but without more research participants of different racial and ethnic backgrounds, in particular of Asian descent,  our scientists are unable to make robust statistical findings.
<h6>Replicating other Studies</h6>
23andMe’s data<a href="https://www.nytimes.com/interactive/2020/07/05/us/coronavirus-latinos-african-americans-cdc-data.html"> replicates findings</a> from the US Centers for Disease Control and Prevention (CDC) showing that not only are Black people and Latinos more likely to contract the virus, they are also much more likely to end up in the hospital across all age groups.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="635" src="https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-1024x635.png" alt="" class="wp-image-28391" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-1024x635.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-768x476.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-880x545.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age-1180x731.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/08/graphic-update-grouped-by-age.png 1252w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
These findings add another stark reminder of a much larger issue — the glaring disparities in health care, health care access, and health outcomes within the United States for Black people, Latinos, and other under-represented racial and ethnic groups. Thus far, there is no data to indicate that there are genetic variants among these populations to explain these differences in outcomes.
<h6>23andMe&#8217;s COVID-19 Research Study</h6>
The preliminary findings are among dozens of new insights researchers have uncovered as part of<a href="https://you.23andme.com/covid19-study/"> 23andMe’s COVID-19 research study</a>. 23andMe scientists are drawing data from more than one million people participating in the study, including more than 20,000 who have been diagnosed with or tested positive for the virus, and more than 1,000 who have been hospitalized. It is among the largest genetic study of COVID-19 in the world.
Since the study’s launch in April, 23andMe has released a range of new insights about the virus, including that<a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/"> O blood type appears</a> to be protective against susceptibility for COVID-19. The study also found genetic variants that appeared to be protective. It is worth noting that African American and Latinx populations are more likely to have Type O blood than Europeans, and despite that, infection risk and hospitalization risk are higher in those groups.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="317" src="https://blogcms.23andme.com/wp-content/uploads/2020/08/covid-age-adjusted.jpg" alt="" class="wp-image-28389" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/08/covid-age-adjusted.jpg 512w, https://blogcms.23andme.com/wp-content/uploads/2020/08/covid-age-adjusted-300x186.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
<h6>More COVID-Related Findings</h6>
Although the study is focused on genetic factors underlying susceptibility and severity, the researchers are also finding interesting non-genetic factors as well as other impacts from the pandemic. For example, 23andMe recently reported data on how<a href="https://blog.23andme.com/23andme-research/activity-changes-during-covid/"> physical activity has decreased</a> since shelter-in-place orders began. And our scientists have found how certain personality traits influence people’s adherence to social distancing recommendations.
Together, these data are helping scientists understand the many dimensions to why the virus affects people so differently. The hope is that this data may offer insights for combating the pandemic.
But data on racial and ethnic disparities from 23andMe scientists as well as other researchers sheds a light on racial disparities in the impact of COVID-19. This is also more impetus to the broader discussions around the need for more equity in health care. Recently scientists from the<a href="https://www.nationalacademies.org/news/2020/07/covid-19-and-black-communities"> National Academy of Sciences</a> held a workshop looking at what might be underlying the disproportionate impact the virus has had on Black communities, as well as the best approaches to remedy that.
One recent initiative, called the <a href="https://www.hhs.gov/about/news/2020/06/23/hhs-announces-partnership-morehouse-school-medicine-fight-covid-19-racial-ethnic-minority.html">National Infrastructure for Mitigating the Impact of COVID-19 within Racial and Ethnic Minority Communities</a>, coordinated by the Morehouse School of Medicine, aims to improve communication around the condition among underrepresented communities as well as ensure access for those communities when a vaccine or other treatments become available.
*23andMe’s COVID-19 study is made possible through the participation of more than a million of our customers in the U.S. who consented to answer survey questions for this research. This study also involves the hard work of a core team of our health researchers, program/product managers, data scientists, engineers, and geneticists. Among them are: Michelle Agee, Amanda Altman, Stella Aslibekyan, Adam Auton, Jess Bielenberg, Adrian Chubb, Daniella Coker, Raffaello d’Amore, Scott Dvorak, Alison Fitch, Scott Hadly, Pooja Gandhi, Andy Kill, Trung Le, John Matthews, Jennifer McCreight, Taylor Morrow, Sungmin Park, Jeff Pollard, Anjali Shastri, Janie Shelton, Teresa Filshtein Sonmez, Jason Tan, Lindsey Tran, Cat Weldon, Chelsea Ye, Yiwen Zheng.

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

Racial and Ethnic Disparities in Impact of COVID-19

Published in <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(20)30200-7">The American Journal of Human Genetics</a>, a paper by 23andMe researchers leveraged genetic data from close to 50,000 people to detail one of the most comprehensive investigations of the transatlantic slave trade ever done. 
The study confirms genetic links between regions in the Americas with areas along the Atlantic coast of Africa that align with routes of known slave voyages documented in shipping records. 
The researchers were able to date the arrival of specific African populations to different parts of the Americas and the representation of specific African communities in those regions of America.

&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="654" src="https://blogcms.23andme.com/wp-content/uploads/2019/10/slave-trade-by-volume.jpg" alt="" class="wp-image-27639" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/10/slave-trade-by-volume.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/10/slave-trade-by-volume-300x192.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2019/10/slave-trade-by-volume-768x491.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2019/10/slave-trade-by-volume-880x562.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Genetic Data and Historical Records</h6>
“Last year marked 400 years since the arrival of the first enslaved Africans in what was to become the United States of America,” said lead author Steven Micheletti, Ph.D., and a 23andMe population geneticist. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="538" src="https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-1024x538.png" alt="" class="wp-image-28348" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Deportation_Final_01-1.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
&nbsp;
The study documents genetic links to Africa in the Americas, Steven said.
“It’s important that we understand the rich history and contributions of African people and their descendants, to the culture and history not only of the United States but also to all the Americas. In looking at the genetic landscape that resulted from this forced migration, one gets a deep and profound sense of the continuous hardships people of African descent have endured.”
<h6>Some Surprises</h6>
While the study aligns with known historical records, the researchers also made some unexpected findings. One was an over-representation of Nigerian ancestry in many parts of the Americas compared to what shipping records show.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="538" src="https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-1024x538.png" alt="" class="wp-image-28345" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/07/Mean-African_Final_02.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
&nbsp;
This most likely reflects the often under-discussed active trade that moved slaves within the Americas, even after the slave trade had been banned by several European nations. 
The data also indicated that South America and Central America had the lowest proportion of African ancestry when compared to the United States and the British Caribbean. This is despite the majority of enslaved people taken from Africa being shipped to South America. It likely reflects cultural and historical differences. It could be due to higher mortality rates in those areas, but also it may be a result that some Latin and South American countries promoted dilution of African ethnicity through intermarriage of fair-skinned European men and women of African descent.&nbsp;
Another surprise was that the researchers failed to find strong genetic connections with people from Senegal and The Gambia. That was unexpected given the number of enslaved people that were deported from that region of Africa. 
The researchers believe this may be because many of those enslaved Senegambians were transported to rice plantations in the United States because they had experience cultivating rice in Africa. But rice plantations in the United States were often rampant with malaria, resulting in extremely high death rates among enslaved people on those plantations.
<h6>History in the DNA</h6>
And the analysis yielded insights into other brutal practices of slavery, one that impacted the lifespan of male slaves and the sexual exploitation of women. 
<div class="mceTemp">
&nbsp;
</div>

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="538" src="https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-1024x538.png" alt="" class="wp-image-28347" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/07/African-Sex-Bias_-Final_01-1.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
&nbsp;
The report confirmed what other studies have shown: a bias towards African female contributions to the gene pools of the Americas due to generations of rape and exploitation. The study found that this was particularly stark in Central America and South America. 
This was another example where genetic results support historical accounts of the dehumanization of enslaved people and their descendants 
<h6>A Deeper Understanding</h6>
Joanna Mountain, 23andMe’s Senior Director of Research and a co-author of the paper, said the study deepens our understanding of the impact of the transatlantic slave trade.
“Our study advances the understanding of the consequences of this period by comparing genetic connections between Africa and the Americas with historical records,” Mountain said. “While historical records previously revealed a large part of the story of the transatlantic slave trade, this study yielded insights into historical processes that may have been only conjectured prior to this study.”
But the research also reveals the deep connections to Africa across all the Americas. 

For Uzodinma Iweala a medical doctor and CEO of The Africa Center, who read an early draft of the paper, it’s that aspect of the paper that resonated the most.&nbsp;
Dr. Iweala, who is Igbo and the child of Nigerian immigrants, said in traveling throughout the United States, the Caribbean and South America he has always been inspired by the long-standing connections between people and the African continent and its Diaspora that show the triumph of personal and community resilience in a context of deliberate and sustained violence.&nbsp;
“It’s a sense of familiarity I and my family have felt in places as different and spread out as St. Simons Island in Georgia, or the streets of Jamaica, or in Bahia, Brazil,” he said. “It sometimes feels like walking the streets of the village where my family is from in Nigeria and that makes me feel safe and welcome.”
The study would not have been possible without the contributions of data by tens of thousands of 23andMe customers who consented to participate in research.

23andMe Paper on Transatlantic Slave Trade Published

Led by researchers in Australia, an international team of scientists uncovered <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008725">new genetic associations</a> for allergies, asthma, and eczema by studying how soon in life individuals developed those conditions.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-300x200.jpg" alt="" class="alignright wp-image-26256 size-medium" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Dandelion-Allergies.jpg 1254w" sizes="auto, (max-width: 300px) 100vw, 300px" />
 
The researchers identified 76 genetic variants associated with these sorts of allergic diseases in or near 18 different genes. They found that about 50 of the variants are associated with both a higher risk for developing allergic diseases and developing one of these conditions at a very early age.
<h6>Genetic Burden </h6>
The significance of the finding is that it can help determine the overall “genetic burden” for developing allergies, or asthma or eczema, according to the co-lead author of the study Manuel Ferreira, Ph.D., a specialist in the genetics of asthma formerly at the<a href="https://www.qimrberghofer.edu.au/"> QIMR Berghofer Medical Research Institute</a> in Brisbane, Australia.

In this <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008725">study</a>, the findings indicate that people with the highest genetic risk are likely developing one of these conditions earliest in life. Those with the lowest genetic risk may never develop symptoms. Using this insight also helped researchers identify new genetic associations for these conditions.
 
While genetics plays an important role, environmental factors also influence the risk of developing an allergic condition. But the findings will help researchers better understand why and how allergic disease develops in some individuals and not others, as well as understand the genetic influences.
<h6>Overlapping Risk</h6>
Ferreira, now at Regeneron, previously worked on a study that found<a href="https://www.nature.com/articles/ng.3985"> overlapping genetic risk</a> factors for allergic diseases, such as asthma and hay fever, which used data from 23andMe. 
 
For this study, the researchers used data from the dozens of previously published genome-wide association studies for allergic disease — some of which included data from 23andMe, as well as the UK Biobank and others.

You can read the full study in <a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008725">PLOS Genetics.</a>

Researchers Identify New Genetic Associations for Allergies, Asthma and Eczema

The COVID-19 pandemic has changed everything: from how we work, learn, and interact, to how active, or inactive, we are each day.
<h2><img loading="lazy" decoding="async" class="alignright wp-image-28320 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/06/Figure-1-Steps-300x261.png" alt="" width="300" height="261" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps-300x261.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps-1024x889.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps-768x667.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps-880x764.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps-1180x1025.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Figure-1-Steps.png 1598w" sizes="auto, (max-width: 300px) 100vw, 300px" />Less Walking</h2>
People are walking a lot less and sleeping more since efforts to slow the spread of COVID-19 began in March, according to new data compiled by 23andMe. Researchers looked at data from 33,000 individuals, who consented to participate in research, and included about 20 million data points tracking more than two months of activity. While we know the virus itself presents serious health risks, these changes in daily behavior may also impact our health in more subtle ways.
“It really comes down to the small everyday things; the commute to work, dropping the kids at daycare or school, the grocery store runs, the walk to get lunch,” said Teresa Filshtein Sonmez, Ph.D., a 23andMe Research Biostatistician, who is a part of the team looking at the data. “All the small everyday physical actions we take add up.&#8221;
<h2>Disrupting Routines</h2>
Teresa noted that while we are sheltering-in-place, we are not doing those things.
&#8220;We know the pandemic is disrupting our lives, but we also want to understand how these changes may affect our health,&#8221; she said. &#8220;We want to understand COVID-19 and the impacts it has, from every angle (not just the <a href="https://blog.23andme.com/articles/blood-type-and-covid-19/">genetic one</a>!); e.g., what is the &#8216;health cost&#8217; of 1000 less steps a day? &#8221;

<img loading="lazy" decoding="async" class="alignright wp-image-28307 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/06/steps-by-day-of-the-week-300x186.png" alt="" width="300" height="186" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/steps-by-day-of-the-week-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/steps-by-day-of-the-week.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Since U.S. residents first began sheltering in place, the daily number of steps taken on average dropped by 22 percent, according to 23andMe’s data. (See Figure 1.) This data came from customers who have consented to participate in research and are sharing data from either iPhones or Apple Watches. The observed pattern is even more striking on weekends. (See Figure 2.) For example, since shelter-in-place policies were enacted, the average number of steps taken on Sundays decreased by about 35 percent. In comparison, during the same period in 2019, the number of daily steps actually increased, likely due to better weather and longer spring days.
<h2>Differences between Groups</h2>
The 23andMe analysis also compared step data across genders and age groups. While we did not observe substantial differences between men and women, the age patterns told a different story. Grouped by age, we found that activity declined within each age group, but for younger individuals, this reduction in activity was especially profound. Before the shelter in place orders, people in their 20s &#8211; 40s had the most steps, but since mid-March, the physical activity patterns have reversed&#8211; with the people in their 20s experiencing the most drastic decrease.  (See Figure 3.)
<div id="attachment_28308" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28308" class="wp-image-28308 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/06/Weekend-steps-300x219.png" alt="" width="300" height="219" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Weekend-steps-300x219.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Weekend-steps.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 3. Step totals by age group before and after shelter in place orders.</div>
The sleep data is a little more challenging to understand because our data come from smart devices rather than sleep trackers. Specifically, we know how long each device has been inactive at night. From that data, we can see that device inactivity increased by about an hour and a half (+12%) during the week. When we dove a little deeper into the device inactivity period, we saw that this extra 1.5 hours of inactivity was restricted to the morning. (See Figure 4.)  In other words, compared to pre-COVID behavior, people seem to be putting their devices down for the night at approximately the same time, but they are starting their days (or initiating device use) a little bit later each day. While device inactivity is not a direct measure of sleep, our data show a substantial change in our customers’ behavior.
<h2><img loading="lazy" decoding="async" class="alignright wp-image-28309 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/06/Device-Inactivity-sleep-300x257.png" alt="" width="300" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Device-Inactivity-sleep-300x257.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Device-Inactivity-sleep.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Parents and Families</h2>
Sheltering-in-place has not only transformed the lives of adults, confining most of us to working from home but has also led to the closures of most schools and daycare centers. To explore how these changes affected parents’ activity levels, we compared both daily steps and average wake-up time across individuals with and without children living at home.*  We observed that COVID-related physical activity changes were more dramatic for individuals without children, especially among men.
On average, in the two weeks since the shelter-in-place ordinances, men without children walked 26% less than in the preceding two weeks, while men with children only reduced their step count by 10%.  Similarly, women without children had a step reduction of 25%, compared to only 20% for mothers. In addition, the median change in the wake-up time for men without children was about 25 minutes greater than it was for fathers. However, we saw only a slight change in this same measure among women. While this could be explained by women sleeping more, it is also possible that women just pick up their devices later in the morning. In fact, other <a href="https://ww2.amstat.org/meetings/jsm/2020/onlineprogram/AbstractDetails.cfm?abstractid=313088">studies by 23andMe scientists</a> have explored gender differences in activity vs. phone use behaviors.
<h2>Other Published Data</h2>
Our findings are consistent with other published evidence on the far-reaching effects of the COVID-19 epidemic. Fitbit&#8211; a fitness tracker manufacturer&#8211; recently<a href="https://blog.fitbit.com/covid-19-global-activity/"> published data</a> showing that in early March, the number of average steps taken by their millions of users has dropped by between 7 percent and 38 percent, depending on the country. Predictably, the largest decreases were in countries suffering the most serious outbreaks, like Spain and Italy. For the U.S., the activity changes reported by Fitbit were modest compared to 23andMe’s data. However, Fitbit only considered data from one week in March whereas 23andMe examined several months’ worth of activity patterns.
This small sampling of the data shows just how much the pandemic has disrupted people’s lives. These changes in activity and sleep may have a lasting health impact that is not captured by infection rates but can compellingly be attributed to the pandemic.
*This analysis was limited to participants in the 20-50 age group.

One Thousand Steps Less During COVID-19

Editor&#8217;s note 9/5/23: Thanks to all our readers for their questions on this post. Please note, 23andMe does not currently offer a report on blood type, and our COVID-19 research is now complete. See the findings from our <a class="waffle-rich-text-link" href="https://blog.23andme.com/articles/covid-19-three-years-in">COVID-19 Study here</a>.



Preliminary data from 23andMe’s ongoing genetic study of COVID-19 appears to lend more evidence for the importance of a person’s blood type — determined by the ABO gene — in differences in the susceptibility to the virus.



While 23andMe researchers continue to explore the implications of this data, we&#8217;re also continuing to provide important genetic health information to our customers. <a class="waffle-rich-text-link" href="https://www.23andme.com/compare-dna-tests/">Compare our DNA tests</a> to learn more about our services.



23andMe is still recruiting for its <a href="https://you.23andme.com/covid19-study/">massive study</a>, most recently seeking <a href="https://blog.23andme.com/articles/23andme-expands-covid-study/">10,000 participants</a> outside of 23andMe who have been hospitalized and diagnosed with COVID-19. (Note: Currently, only those living in the U.S. are eligible to participate in this study.) 23andMe researchers have yet to finish looking at what the genetic data indicate.



<h2 class="wp-block-heading" id="h-a-first-look">A First Look</h2>



But a first blush look at the information from the more than 750,000 participants in the study shows the following:



<ul class="wp-block-list">
<li>The preliminary data suggest that O blood type appears to be protective against the virus when compared to all other blood types.</li>



<li>Individuals with O blood type are between 9-18% percent less likely than individuals with other blood types to have tested positive for COVID-19, according to the data.</li>



<li>There appeared to be little differences in susceptibility among the other blood types.</li>



<li>These findings hold when adjusted for age, sex, body mass index, ethnicity, and co-morbidities.</li>



<li>Although <a href="https://www.medrxiv.org/content/10.1101/2020.04.08.20058073v1.full.pdf">one study</a> found the blood group O only to be protective across rhesus positive blood types, differences in rhesus factor (blood type + or -) were not significant in 23andMe data. Nor was this a factor in susceptibility or severity in cases.</li>



<li>Among those exposed to the virus — healthcare and other front line workers — 23andMe found that blood type O is similarly protective, but the proportion of cases within strata is higher.</li>
</ul>



<h2 class="wp-block-heading" id="h-preliminary-genetic-association">Preliminary Genetic Association</h2>



While it is still very early in the study, 23andMe’s preliminary investigation into genetics seems to support these findings. We&#8217;ve compared the research participants who reported that they tested positive for COVID-19 to those who tested negative. Our researchers identified a variant in the ABO gene associated with a lower risk. (The single nucleotide polymorphism in the ABO gene is rs505922, a T at that location is associated with lower risk. The P-value for the association is 1.4e-8, OR = 0.88).



Both the data on blood type and the preliminary genetic findings also appear to support at least two recently published pre-print studies — one by <a href="https://www.medrxiv.org/content/10.1101/2020.03.11.20031096v2">researchers in China</a> and the most recent one by <a href="https://www.medrxiv.org/content/10.1101/2020.05.31.20114991v1">researchers in Italy and Spain</a> — that look at the ABO gene’s role in COVID-19. The study in China looked at susceptibility, while the Italian and Spanish study found an association with blood type and severity of the illness.



Numerous other studies have reported that the ABO blood group plays a role in both susceptibility and severity for COVID-19 (refs: <a href="https://www.medrxiv.org/content/10.1101/2020.03.11.20031096v2">1</a>, <a href="https://www.medrxiv.org/content/10.1101/2020.05.31.20114991v1">2,</a> <a href="https://www.medrxiv.org/content/10.1101/2020.05.31.20114991v1">3</a>). We know from <a href="https://cmr.asm.org/content/28/3/801">other studies</a> that the ABO blood group can play a direct role in other types of infections. This is because it serves as receptors, or coreceptors for microorganisms, parasites, and viruses. The preliminary findings from 23andMe’s data are also notable because of the link between COVID-19 <a href="https://www.nature.com/articles/d41586-020-01403-8">blood clotting</a>, and <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa2007621">cardiovascular disease</a>.



<h2 class="wp-block-heading" id="h-comparing-blood-types">Comparing Blood Types</h2>



23andMe researchers wanted to investigate this link with blood type, so we estimated the contribution to risk by comparing each blood group against each of the others. Because the differences are quite small, an extremely large sample size is needed to explore differences across groups. For 23andMe’s study, which now includes more than 750,000 individuals, we investigated the cumulative incidence of self-reported COVID-19 by blood type, hospitalization by blood type, and proportion of those infected after known exposure by blood type.



Here is what we found.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="185" src="http://35.88.189.111/wp-content/uploads/2020/06/Table-1-Comparison-by-Blood-Type-300x185.png" alt="A chart showing the percent of 23andMe research participants who tested positive for COVID-19 by blood group" class="wp-image-28288" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Table-1-Comparison-by-Blood-Type-300x185.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Table-1-Comparison-by-Blood-Type-768x475.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Table-1-Comparison-by-Blood-Type-880x544.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Table-1-Comparison-by-Blood-Type.png 922w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Percent of 23andMe research participants who tested positive for COVID-19, by blood group.</figcaption></figure>



Among respondents to the 23andMe COVID-19 survey, the percent of respondents reporting a positive test for COVID-19 is lowest for people who are O blood type. The percent of respondents reporting a positive test for COVID-19 was highest among those with the AB blood type.



Those who were blood groups A, B, and AB did not statistically differ from each other (Table 1 Below). This relationship holds after adjusting for age, sex, body mass index, race, ethnicity, and co-morbidities.



<h2 class="wp-block-heading" id="h-looking-at-those-with-higher-probability-for-exposure-to-covid-19">Looking at Those with Higher Probability for Exposure to COVID-19</h2>



<a href="https://www.medrxiv.org/content/10.1101/2020.04.08.20058073v1.full.pdf">One study</a> found the blood group O protective only across rhesus positive blood types. But in 23andMe’s data we found that differences by self-reported rhesus factor (blood type + or -) were not significant. Neither was the interaction between blood group and rhesus factor in statistical models predicting being a case, or being a hospitalized case.



To better understand the risk of acquiring the infection, we restricted the data to those with a high probability of exposure. This included professional health care workers. These would be individuals with close contact with known cases, and essential workers. As you can see below, blood type O shows a similar pattern as seen above. But the proportion of cases within strata is higher, as we would expect.



After adjustment for age, age squared, sex, race (census race categories), ethnicity (Hispanic or Latino), BMI, and a single variable indicating a vulnerability to severe infection (e.g. high-risk co-morbidity or immunocompromised) blood type O showed a protective effect against both acquiring (OR = 0.86, p &lt; 0.0001), and being hospitalized for the infection (OR = 0.81, p = 0.05). The protective effect of acquiring the infection strengthened in models restricted to the “exposed” population (OR = 0.81, p &lt; 0.0001). (Table 1).



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="292" src="http://35.88.189.111/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-1024x292.png" alt="A chart showing cases and controls and the odds ratios" class="wp-image-28291" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-1024x292.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-300x85.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-768x219.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-880x251.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table-1180x336.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Case-v-Controls-Outcomes-Table.png 1502w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Table 1. Adjusted Odds Ratios (ORs) and 95% Confidence Interval (CI) estimating the effect of blood type O compared to all other blood types for the risk of infection (case v control) or hospitalization. An OR is a statistic that quantifies the strength of the association between a measurement and an outcome, while a Confidence Interval is a range of values that is likely to contain the true unknown value.</figcaption></figure>



In the whole population, those with the O blood group were 9-18% less likely to test positive compared to the other groups. When looking at only exposed individuals, those with O blood group were 13-26% less likely to test positive.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="185" src="http://35.88.189.111/wp-content/uploads/2020/06/Blood-Type-for-Exposed-Individuals-1-300x185.png" alt="A chart showing blood type for people exposed to COVID-19" class="wp-image-28292" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Blood-Type-for-Exposed-Individuals-1-300x185.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Blood-Type-for-Exposed-Individuals-1-768x475.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Blood-Type-for-Exposed-Individuals-1-880x544.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Blood-Type-for-Exposed-Individuals-1.png 922w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



<h6 class="wp-block-heading" id="h-"><code style="display: none;"> 
</code><code style="display: none;"></code></h6>



<h2 class="wp-block-heading" id="h-still-recruiting">Still Recruiting</h2>



23andMe launched its COVID-19 study on April 6th. We invited customers to participate in the large-scale study looking at whether genetics could help explain the differences in <a href="https://blog.23andme.com/articles/covid-19-severity-calculator">severity among patients</a>. 



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="624" src="http://35.88.189.111/wp-content/uploads/2020/06/Exposed-population-1024x624.jpg" alt="A chart showing the percent of those exposed to COVID-19 who were diagnosed with it." class="wp-image-28293" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/06/Exposed-population-1024x624.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Exposed-population-300x183.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Exposed-population-768x468.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Exposed-population-880x536.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/06/Exposed-population.jpg 1044w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Percent reporting positive test for COVID-19 among those with a high probability of exposure (health care professionals, essential workers, and those experiencing personal contact with a diagnosed case), by blood group.</figcaption></figure>



In May, the study was <a href="https://blog.23andme.com/articles/23andme-expands-covid-study/">expanded.</a> We added individuals outside of 23andMe who have experienced severe COVID-19 symptoms. The <a href="https://you.23andme.com/covid19-study/">expanded study</a>, in which 23andMe is providing 10,000 kits free of charge, aims to identify individuals who tested positive and were hospitalized for COVID-19. As part of the research, participants answer survey questions. These are questions about whether they’ve experienced cold or flu-like symptoms for instance. We also ask whether they’ve been diagnosed or<a href="https://blog.23andme.com/articles/mapping-genetics-of-covid-19"> treated for COVID-19</a>, and whether they’ve been hospitalized for the illness.



The study and recruitment are ongoing. We hope that we can use our research platform to better understand differences in how people respond to the virus. Ultimately, we hope to publish our research findings. We want to provide more insight into COVID-19 for the scientific community.



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



Find out if your <a href="https://www.23andme.com/test-info/genetic-health/">genetics</a> might Increase your risk for any health conditions with 23andMe.

Blood type may play a role in COVID-19 

A new study that relied on data from more than four million 23andMe customers, may help speed efforts now underway to find drug targets for treating Parkinson&#8217;s disease.
<img loading="lazy" decoding="async" class="alignright wp-image-3133 size-full" src="http://35.88.189.111/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="" width="260" height="236" />Working with researchers at 23andMe, scientists at the Broad Institute of MIT and Harvard, were able to identify a very rare group of individuals who have what are called &#8220;loss of function&#8221; alleles in the gene LRRK2. These 1,400 individuals also do not appear any more or less healthy than those without the loss of function alleles, even though the alleles have essentially turned off the function of one of their LRRK2 genes.
This finding, published in the journal <a href="https://www.nature.com/articles/s41591-020-0893-5">Nature Medicine</a>, gives drug hunters looking for new treatments more evidence that they may be able to safely target that gene, which is the most common genetic cause for Parkinson&#8217;s.

<h6>Collaborating and Leveraging Data</h6>
The paper was one of <a href="https://www.broadinstitute.org/node/629796">seven published </a>by the researchers using data from Broad&#8217;s <a href="https://www.nature.com/immersive/d42859-020-00002-x/index.html">Genome Aggregation Database</a> (gnomAD), which brings together exome and sequence data from many sources for researchers. Leveraging that data, the researchers looked not just at Parkinson’s disease, but also developed a catalog of human variation, insights into population genetics, disease association, and diagnostic screening.
A grant from the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a> helped pay for the work on the LRRK2 paper, which included essential contributions from scientists at Imperial College London, and the Icahn School of Medicine at Mount Sinai. The study also included data from the <a href="https://www.ukbiobank.ac.uk/">UK Biobank</a> and Broad&#8217;s gnomAD.
&#8220;The study is another illustration of the immense value of 23andMe&#8217;s data,&#8221; said Paul Cannon Ph.D., 23andMe&#8217;s Parkinson&#8217;s disease research manager. &#8220;Having this very large genetically and phenotypically characterized cohort offers novel opportunities to look for evidence of any potential safety concerns for drugs for targets like these, which individuals at risk of developing Parkinson’s, may end up taking chronically, perhaps for decades .&#8221;
<h6>Looking at LRRK2</h6>
As part of their work, the researchers were also able to confirm many known loss of function variants in the LRRK2 gene, which are extremely rare. But the researchers also found that about 1,400 individuals in the 23andMe database carried one of three loss of function variants. The 23andMe data includes extensive health as well as other <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">phenotypic information</a>. This allowed researchers to determine that those individuals did not appear to be suffering health effects from that loss of function.
In most cases, the cause of Parkinson&#8217;s disease is unknown. There is a complex mix of genetic and environmental factors at play that lead to the development of the disease. But in the last decade, researchers have identified variants in a handful of genes, including <a href="https://ghr.nlm.nih.gov/gene/LRRK2#normalfunction">LRRK2</a>, associated with developing Parkinson&#8217;s disease. In the case of LRRK2 a variant in the gene is associated with the overproduction of certain proteins in the brain. Scientists have long believed that one avenue for treating the disease may lie in modifying, or &#8220;down-regulating&#8221; the function of the LRRK2 gene. Still, they want to better understand whether that can be done safely.
&#8220;These results suggest that drugs that reduce LRRK2 kinase activity are unlikely to show toxicity due to on-target effects,&#8221; the researchers state in the paper.

Large Study Offers Insight into Parkinson’s

(Editor&#8217;s note 5/: Although 23andMe researchers continue to work on the COVID-19 study we are no longer recruiting new customers as study participants. Existing 23andMe customers can still complete the survey and can contribute to the study <a href="https://you.23andme.com/research/surveys/covid_19_baseline/">here.)</a> 

Encouraged by strong interest, 23andMe is expanding its COVID-19 genetics study and opening enrollment to people who have been hospitalized with severe cases of the virus but are not currently 23andMe customers.<img loading="lazy" decoding="async" class="aligncenter wp-image-28267 size-larger" src="http://35.88.189.111/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-880x461.png" alt="" width="880" height="461" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/05/FB-Twitter-1200x628-1.png 1200w" sizes="auto, (max-width: 880px) 100vw, 880px" />
Launched on April 6th to existing 23andMe customers who have consented for research,<a href="https://blog.23andme.com/articles/covid-19-genetic-study/"> the study</a> aims to enlist hundreds of thousands of individuals to determine if there are genetic factors associated with why the virus hits some people so much harder than others. Beginning today, anyone who is eligible will be able to <a href="http://you.23andme.com/covid19-study">enroll in the study</a>, which is no longer limited to just 23andMe customers.

<h6>Hundreds of Thousands of Participants</h6>
23andMe has already enrolled more than half a million participants in its COVID-19 study, including more than 7,000 who&#8217;ve been diagnosed with the virus. We hope to continue to add more as we gradually reach out to our millions of customers. We are now expanding the study to up to 10,000 individuals who have been hospitalized with severe cases of COVID-19 but are not currently 23andMe customers. Individuals who qualify for the study and are willing to participate in online surveys will receive the <a href="https://www.23andme.com/dna-health-ancestry/" target="_blank" rel="noopener">23andMe Health + Ancestry Service</a> at no cost. (Learn more about the study and eligibility <a href="http://you.23andme.com/covid19-study">here</a>.)
“Opening up the research to individuals with more severe symptoms will increase our power to learn how genes play a role in the severity of this disease,” said Joyce Tung, Ph.D., 23andMe’s Vice President of Research.
In addition, 23andMe is encouraging hospitals and healthcare systems that are interested in collaborating on this research to reach out to us at <a href="mailto:apply.research@23andme.com">apply.research@23andme.com</a>.
<h6>23andMe&#8217;s Unique Research Model</h6>
Our research platform allows 23andMe to not only reach out to current customers, but also quickly recruit and genotype new research participants. We can then survey those participants, and conduct genetic studies at a massive scale.
There is still much scientists do not know about this virus. It is also possible that 23andMe will not find strong genetic associations for the differences in the severity of symptoms. But we know from research that<a href="https://blog.23andme.com/articles/genetics-and-covid-19-severity/"> genetics plays a role</a> in both susceptibility to and severity of other infectious diseases. For example, variants in the HBB gene influence an individual’s susceptibility to malaria.  Variants in the FUT2 gene confer some resistance to the norovirus. And variants in the HLA genes may explain the differences in the immune response to several different infections. In the case of COVID-19, there are several questions about whether genetics may explain the differences in immune response among patients. Our study could aid in assessing differences in risk among individuals. It could also guide efforts now underway to treat the disease caused by the virus.
<h6>Studying at Differences in Severity</h6>
Enrolling more individuals who have experienced severe COVID-19 symptoms in the study will enable 23andMe to investigate a spectrum of how people experience this disease. By studying those with severe symptoms versus patients with moderate or mild symptoms, 23andMe researchers will be in a better position to uncover potential genetic factors associated with the severity of the disease.
If we are successful in gathering enough data for this genome-wide association study, we plan to share the results of our research with the broader scientific community. We will also continue to consider the expansion of enrollment and eligibility requirements for the study.
If you or someone you know has been hospitalized for COVID-19 and is interested in participating in this research you can find out more <a href="http://you.23andme.com/covid19-study">here</a>.
<hr />
<h6>References:</h6>
1)<a href="https://www.ncbi.nlm.nih.gov/pubmed/22310894"> Chapman SJ et al. (2012). “Human genetic susceptibility to infectious disease.” Nat Rev Genet. 13(3):175-88.</a>
2) <a href="https://www.ncbi.nlm.nih.gov/pubmed/28928442">Tian C et al. (2017). “Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.” Nat Commun. 8(1):599.</a>

23andMe Expands its Genetic Study of COVID-19

Many people who carry a BRCA genetic variant associated with an increased risk for breast, ovarian, prostate, and certain other cancers do not have a strong family history of cancer, according to a new study from 23andMe. This means that these individuals would likely not qualify for clinical genetic testing unless they developed cancer themselves, representing a missed opportunity for cancer prevention.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/04/BRCA-wide-image-1-300x192.png" alt="" class="alignright wp-image-26127 size-medium" width="300" height="192" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/04/BRCA-wide-image-1-300x192.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/04/BRCA-wide-image-1.png 318w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The study, published in the journal <a href="https://www.nature.com/articles/s41598-020-63466-x">Scientific Reports</a>, could help inform the on-going discussion around broader access to BRCA genetic testing.  
&#8220;Our study suggests that many individuals with a BRCA variant are likely being missed under current testing criteria,&#8221; said Ruth Tennen Ph.D., a 23andMe Product Scientist and a co-author of the study. 
<h6>Cancer History and Ashkenazi Ancestry </h6>
The study is consistent with findings from other researchers suggesting many individuals who carry BRCA risk variants slip through the cracks in current testing. A recent study by <a href="https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2703131">researchers at Geisinger</a> reported that more than 80 percent of people with a BRCA variant did not know they have one.
Current clinical criteria for BRCA genetic testing include having a personal or <a href="https://www.uspreventiveservicestaskforce.org/uspstf/document/RecommendationStatementFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing">family history of cancer</a>. Having Ashkenazi Jewish ancestry is also taken into consideration. 
But the 23andMe study found that a significant number of individuals with one of three BRCA risk variants common among Ashkenazi Jews have no known first-degree family history of a BRCA-related cancer or no known Jewish ancestry. 
About 44 percent of individuals who provided both ancestry and family health history information had no first-degree relative with a BRCA-related cancer, the study found. The researchers also found that 21 percent of individuals who had one of the three Ashkenazi Jewish BRCA1 or BRCA2 founder variants did not report having Jewish ancestry. But of those individuals, more than half did have detectable Ashkenazi Jewish genetic ancestry. In the absence of a personal history of cancer, these individuals would have been unlikely to qualify for clinical genetic testing, and would have been left unaware of their risk. 
<h6>23andMe Study Details</h6>
The study included data from more than 2,800 23andMe customers who consented to participate in research. All of those individuals carry one or more of the three genetic variants in the BRCA1 and BRCA2 genes included in 23andMe&#8217;s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report* that are associated with an increased risk for breast, ovarian, prostate, and certain other cancers. 
While these three variants are most commonly found in people of Ashkenazi ancestry, they confer significant risk no matter a person&#8217;s ancestry. The prevalence of these three variants is about 1 in 40 in people of Ashkenazi Jewish descent. In the general population, about 1 in 300 to 1 in 800 individuals has a BRCA variant, although typically not one of the three variants included in 23andMe&#8217;s report. Women with a BRCA variant have a 45-85 percent chance of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. Men with a BRCA variant have an increased risk for male breast cancer and may have an increased risk for prostate cancer. Having one of these variants may also increase the risk for pancreatic cancer and melanoma.
<h6>23andMe&#8217;s Genetic Health Risk Report</h6>
<div id="attachment_26897" style="width: 272px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26897" src="https://blog-api.23andme.com/wp-content/uploads/2019/02/Speak-BRCA-262x300.jpg" alt="" class="wp-image-26897 size-medium" width="262" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/02/Speak-BRCA-262x300.jpg 262w, https://blogcms.23andme.com/wp-content/uploads/2019/02/Speak-BRCA.jpg 376w" sizes="auto, (max-width: 262px) 100vw, 262px" />You can learn more about BRCA <a href="https://www.23andme.com/brca/">here</a>.</div>
It&#8217;s important to understand that 23andMe&#8217;s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk <a href="https://www.23andme.com/test-info/genetic-health/">report</a>* looks at just three genetic variants associated with increased risk for breast, ovarian, prostate, and certain other cancers. 23andMe is still the only company <a href="https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm599560.htm">with FDA authorization</a> to offer direct-to-consumer genetic health risk reports for cancer predisposition. The report is by no means a comprehensive screen, nor is it meant to be diagnostic. There are more than 1,000 other BRCA variants associated with increased cancer risk.
This study focused on just the three variants 23andMe tests for because they have been analytically validated on the most recent versions of 23andMe&#8217;s genotyping chip. For these three risk variants, 23andMe has demonstrated a greater than 99 percent accuracy and reproducibility in testing. 
Several years ago, 23andMe conducted a smaller study looking at the response to <a href="https://peerj.com/articles/8/">unexpected BRCA</a> findings. That study found that those who learned they carried a risk variant generally took appropriate actions, talking to their doctors and sharing their results with family members, creating what the study called a &#8220;cascade effect&#8221; that benefited relatives who might not know of the family risk for these hereditary cancers.
The 23andMe study published this week may help inform discussions about broader access to BRCA<a href="https://www.23andme.com/" target="_blank" rel="noopener"> genetic testing</a>. 
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*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person&#8217;s overall risk of developing any type of cancer. It 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 treatments. Warnings &amp; Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. 
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Research — Page 19