A call for increased inclusivity and global representation in pharmacogenetic testing. April Kennedy et al. NPJ Genom Med 2024 2 (1) 13 (Posted Feb 23, 2024 3PM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=fhh&query=home From the abstract: "Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing. "