100,000-Participant Study Tackles Gaps in Pharmacogenomics Representation

By parsing genetic and medication data from a diverse group of nearly 100,000 Americans, researchers have made new discoveries about the frequency of gene variants that can impact how the body responds to medications. The findings address large gaps in knowledge about pharmacogenomics in underrepresented groups, and could tackle the lack of diversity that has held back the field's implementation in the clinic. Pharmacogenomics studies how a patient's genes (or rather, a specific subset called pharmacogenes) influence how they respond to and process medications. Although evidence supports the application of pharmacogenomics in patients, the field faces various obstacles to broad implementation. Most critically, pharmacogenomics studies have been limited by a lack of diversity, as there is a paucity of genetic data about African and other non-European ancestry groups. To rectify this, Andrew Haddad and colleagues turned to the All of Us Research Program, which aims to gather electronic health records from one million Americans of diverse backgrounds. The scientists parsed the frequencies of 16 well-established pharmacogenes using whole-genome sequencing and electronic health records data from 98,590 participants. The cohort spanned a wide range of ancestral groups, including African (23,179), Americas (15,133), East Asian (2,199), and European (48,112). 100% of the cohort carried at least one variant in one of the 16 pharmacogenes, and 24.4% had taken a medication that would be affected by one of the variants. What's more, the observed frequencies in pharmacogenes such as SLCO1B1 in the African ancestry group deviated from previous reports used to develop pharmacogenomics guidelines. "As All of Us achieves its goals to recruit participants from groups whose health outcomes have not been extensively studied in biomedical research, we expect that broad representation will continue to expand and increase the value of these data to improve the health of Americans," Haddad et al. conclude.