A call for increased inclusivity and global representation in pharmacogenetic testing.
NPJ Genom Med
; 9(1): 13, 2024 Feb 22.
Article
en En
| MEDLINE
| ID: mdl-38388691
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
NPJ Genom Med
Año:
2024
Tipo del documento:
Article
País de afiliación:
Canadá