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A call for increased inclusivity and global representation in pharmacogenetic testing
oleh: April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K. Jobling, Raymond H. Kim, Tamorah Lewis, Iris Cohn
Format: | Article |
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Diterbitkan: | Nature Portfolio 2024-02-01 |
Deskripsi
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.