February is a time for celebrating Black history. While we’re doing that here at 23andMe, we’re also reflecting on our efforts to address the disparities in biomedical and genetic research for people of African ancestry.
We want to share some of what we’ve been doing over the last year or so — around sickle cell disease and for a rare condition called sarcoidosis, both of which impact the Black community at much higher rates than other populations. But first, we want to give you some context and history.
Representation is important because, without it, the benefits from research fail to help all people, further compounding health disparities.
In addition to it being the right thing to do, improving representation also makes for good science. For example, research shows that genetic studies that include diverse, multi-ethnic participants have a higher chance of discovering significant genetic variants associated with diseases. Researchers would have missed those associations if the studies had only focused on one homogenous group.
Representation in 23andMe Research
So, what is 23andMe doing to address these research disparities?
23andMe’s vice president for Research, Joyce Tung addressed that question two years ago in an opinion piece, saying:
“There is no silver bullet to solve this problem, and it will require prioritizing multiple efforts now and into the future to ensure that we help everyone benefit from the human genome.”
We have made it a priority and done a lot, but we have so much more work.
Our first significant effort to address research disparities goes back to 2011 when we launched our Roots into the Future. For this project, we recruited 10,000 African Americans to participate in research and help improve the kind of research we could do within the Black community.
Since then, we’ve had a steady cadence of projects, the African Genetics Project, the African American Sequencing Project, and the Global Genetics Project, to name a few. And over the decade, we have built a research cohort that now is among the largest, if not the largest, cohort of African Americans (more than 500,000 people) with both genotypic and phenotypic information and who have consented to participate in research. Moreover, this large group of people with African ancestry who have consented to participate in 23andMe research offers our scientists the chance to study conditions relevant to the Black community.
Over the last year, we’ve undertaken several additional projects to improve the diversity of our research, doing research relevant to people within the Black Community, and enhancing the types of results we can return to customers with African ancestry.
Sickle Cell Anemia & Sickle Cell Trait
Many of the projects we’ve been doing over the last year, and continue to be working on now, were only possible with all the effort we’ve made over the last decade to improve the diversity of our research participants. But, more importantly, customers of African descent who have consented to participate in 23andMe research have allowed us to study conditions important for the Black community.
One of those areas of study is sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene. People who carry just one copy of the HbS variant in the HBB gene have what’s called sickle cell trait. These carriers will not develop sickle cell anemia, because that requires having two copies of HbS. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait. Sickle cell anemia got its name because, in people with the condition, red blood cells become “sickled” or crescent-shaped in certain circumstances. Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America.
We’ve been focused on research, new product improvements, and efforts to raise awareness within the Black community about what it means to be a carrier of sickle cell anemia. We recently updated the 23andMe Sickle Cell Anemia Carrier Status report,* which helps identify carriers who may not otherwise have known their status, as well as provide information about sickle cell anemia and what this report may mean for someone’s own health and the health of their children.
This comes on the heels of a collaboration with the non-profit Breaking the SSickle Cell Cycle Foundation to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease. About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia, but awareness of sickle cell anemia and how it’s inherited is often limited. We’re hoping to change that.
In addition, 23andMe researchers have also undertaken an important research collaboration with scientists at the National Institutes of Health (NIH), and Johns Hopkins University School of Medicine. The study is now the largest and most diverse genetic study of sickle cell trait ever done. There will be more to come with this work in the coming months.
Representation in Sarcoidosis Research
In 2022, we also launched a study into the genetic underpinning of sarcoidosis, a rare condition that disproportionately impacts people of African descent. African Americans develop the condition at twice the rate of those of European ancestry.
Sarcoidosis is an inflammatory disease that results in the clumping of inflammatory cells in different organs. While it mainly affects the lungs, it can affect any organ in the body. Symptoms include fatigue, swollen lymph nodes, or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough, or chest pain. When it involves the heart, the condition may result in irregular heartbeat, accelerated heartbeat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision.
Currently, there is no cure and few approved treatments.
23andMe wants to change that, yet sarcoidosis is rare, making it particularly challenging to study. However, this is where 23andMe’s research model and our efforts to recruit within the Black community have proven uniquely suited. In the months since launching the study, we’ve been able to recruit individuals from across the United States.This has allowed many individuals who might not otherwise be able to participate in research to participate from home.
Just as with most other rare diseases, there is a strong genetic component to sarcoidosis, but many genetic variants associated with the condition have not yet been identified. Nevertheless, we’re well on our way to meeting our goal of enrolling 2,000 people with sarcoidosis to learn more about the disease’s genetics.
This research aims to improve the lives of people living with sarcoidosis through a potential treatment discovery.
As 23andMe expands representation within our research cohort, we strive to better reflect the rich diversity of the U.S. and world. With continued participation, we hope to continue to share scientific and health insights and conduct research on diseases that have high rates in the Black community to equitably improve health outcomes.
*The 23andMe PGS test uses qualitative genotyping to detect 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’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 Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.