23andMe Black Representation in Genetic Research Study

23andMe has begun their 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. There is more 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.

The Black community is dramatically underrepresented in genetic health research, meaning they don’t equally benefit from insights gleaned from that work. 23andMe hopes that improving diversity in their 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.

For this study, 23andMe is extracting RNA from whole blood and sequencing it. They will also sequence consented study participants’ whole genomes using the saliva samples they originalyl submitted to 23andMe.

23andMe will 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.”

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