Black History Month is a time to honor the resilience and contributions of the Black community. At the 23andMe Research Institute, we recognize that our understanding of human health and genetics is deeply rooted in the participation of people of African descent, whose contributions are essential to shaping one of the most diverse genetic research cohorts in the world.
Despite decades of progress in genetics, people of African descent remain vastly underrepresented in biomedical research. That gap limits what science can uncover and who ultimately benefits from those discoveries.
Through member participation and programs aimed at increasing research representation from certain global regions, today, the 23andMe Research Institute is proud to host the world’s largest genetic research cohort of individuals with African ancestry reflecting the deep genetic diversity of African and African American communities and humanity as a whole. This diversity of research participants helps to drive discoveries that benefit all of us.
From Participation to Personal Insights
It’s important that the new insights generated from our members’ contributions to research are returned to you. The contributions of consented Black and African American research participants has led to significant enhancements in the member experience. For example:
- Expanded Genetic Groups: Over 250 Genetic Groups in Africa, more than 200 African American Genetic Groups, and 19 Afro-Caribbean Genetic Groups that have come as a direct result of more diverse data from 23andMe customers who have consented to participate in research.
- Targeted Health Reports: Through the years we have delivered insights into traits and conditions that disproportionately affect the Black and African American community, such as sickle cell anemia, G6PD deficiency, and Duffy antigen status.
But the impact of this research community extends far beyond individual reports and features for our members. It is fundamentally advancing what humanity knows about itself.
Global Impact: Landmarks in Research
By choosing to participate in our research program, our members are helping rewrite history books and shape the future of medicine. Here are a few ways our research cohort is making an impact:
1. Uncovering Lost History
23andMe researchers used DNA to connect living people to enslaved and free African Americans buried at the Catoctin Furnace historical site. This landmark work shows how DNA can be used to both restore some knowledge of the individuals buried at sites like this, as well as help bridge the gap left by missing historical records to living descendants, restoring stories that time and systemic erasure tried to hide.
Harney, Éadaoin et al. “The genetic legacy of African Americans from Catoctin Furnace.” Science (New York, N.Y.) vol. 381,6657 (2023): eade4995. doi:10.1126/science.ade4995
2. Mapping the Transatlantic Legacy
Our large-scale study on the transatlantic slave trade provided a deeper look into the genetic impact of the Middle Passage. By analyzing the genomes of over 50,000 research participants, we’ve been able to better understand the regional origins and the complex history of the African diaspora in the Americas. Ultimately, this research may empower participants to reconnect to histories that were severed by the transatlantic slave trade.
Micheletti, Steven J et al. “Genetic Consequences of the Transatlantic Slave Trade in the Americas.” American journal of human genetics vol. 107,2 (2020): 265-277. doi:10.1016/j.ajhg.2020.06.012
3. Refining Understanding of Sickle Cell Trait
Our research study of sickle cell trait was the largest and most diverse study of this trait, and included more than 4 million consented research participants. This important study showed that those with sickle cell trait (meaning people who carry one copy of the HbS variant in the HBB gene) do have a slightly increased likelihood of developing harmful blood clots. However, the magnitude of that risk is still below other genetic factors (such as Factor V Leiden) that are also known to increase the risk of harmful blood clots. While having sickle cell trait is typically considered being a carrier without any impact to your own health, this research shows that the estimated eight to 10 percent of African Americans who have sickle cell trait may benefit from knowing about potential risks (especially in other situations that may increase the chances of harmful blood clots, such as surgeries or hospitalizations).
Learn more about the Sickle Cell Carrier Status Awareness Program.
Lin, Keng-Han et al. “Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden.” Blood advances vol. 8,21 (2024): 5710-5718. doi:10.1182/bloodadvances.2024014252
Ongoing need for research
Scientific progress must benefit everyone and to do that we must continue to engage diverse participants in research. We remain committed to ongoing research and collaboration with the Black and African American community to advance understanding of conditions that particularly impact them. One ongoing example is the genetic insights into colorectal cancer in the Black community study. Launched in collaboration with the Colorectal Cancer Alliance, the study aims to shed light on the genetics of colorectal cancer, which Black and African Americans are about 15% more likely to develop and 35% more likely to die from compared to non-Hispanic white Americans. This study is one of many critical steps toward closing the health disparity gap. This data ensures that the next generation of treatments and preventative care is designed with all populations in mind.
The Power of the Research Model
This is the heart of the 23andMe Research Institute: a cycle of participation and discovery. Members contribute their data and their time to research. That research leads to new scientific insights. And those insights are then returned, through new reports, features, knowledge, and publications to the very people who made the discoveries possible.
If members choose to contribute to research, they aren’t just a participant; they are a collaborator. Their contribution fuels a cycle that makes the world’s largest genetic database of individuals with African ancestry even more representative and more useful for everyone.
