A call for increased inclusivity and global representation in pharmacogenetic testing

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 i...

Full description

Bibliographic Details
Published in:npj Genomic Medicine
Main Authors: April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K. Jobling, Raymond H. Kim, Tamorah Lewis, Iris Cohn
Format: Article
Language:English
Published: Nature Portfolio 2024-02-01
Online Access:https://doi.org/10.1038/s41525-024-00403-1
Description
Summary: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.
ISSN:2056-7944

Similar Items