A call for increased inclusivity and global representation in pharmacogenetic testing

Author:

Kennedy April,Ma GabrielORCID,Manshaei Roozbeh,Jobling Rebekah K.,Kim Raymond H.,Lewis Tamorah,Cohn IrisORCID

Abstract

AbstractCommercial 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.

Funder

Sick Kids Foundation

Publisher

Springer Science and Business Media LLC

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Education of Future Pharmacogenomics Laboratory Directors;Advances in Molecular Pathology;2024-07

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