Black Representation in Genetic Research Study

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.

Everyone Should Benefit from Genetic Research

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 genetic health 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.

Sequencing

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.” 

More Diverse Representation

One estimate in 2018 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 Roots into the Future Project, or the African Genetics Project, or African American Sequencing Project, the Global Genetics Project, as well as the Populations Research Collaborations program —  each project was meant to enhance the diversity in our research and our product.  

Beyond 23andMe

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 (dbGaP). This is a repository sponsored by the National Institutes of Health (NIH). 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.

A Little History

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 Tuskegee Syphilis Study, 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.

The Common Rule

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 “The Common Rule,” 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.

23andMe’s Ethical Approach to Research

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 National Human Genome Research Institute (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 so that scientists can better identify unique genetic determinants of disease and develop more effective treatments to benefit the Black community.