Pharmacogenomic variants are near-universal in a large, diverse US cohort
- Whole-genome sequencing and health records from nearly 100,000 All of Us participants were used to profile variants in 16 pharmacogenes and infer predicted drug-response phenotypes.
- Every participant carried at least one variant, and almost all had a predicted phenotype linked to prescribing recommendations.
- About a quarter had both an actionable phenotype and a past exposure to an affected medication.
- Thousands of novel variants and many atypical allele frequencies emerged, especially in Americas and African ancestry groups.
💡 Points Based on the abstract
Near-universal carriage is expected, since most people carry some variant in a pharmacogene, so the useful question is whether genotype changes outcomes. Predicted phenotype is not measured exposure: without drug levels or response data, the actionable-and-exposed fraction overstates clinical impact. The next step is linking the novel and atypical-frequency alleles to functional assays and EHR outcomes, particularly in under-represented ancestries.
📄 Paper · Science Translational Medicine ↗ Frequency of pharmacogenomic variation and medication exposures among participants in the All of Us Research Program