A call for increased inclusivity and global representation in pharmacogenetic testing.
NPJ Genom Med
; 9(1): 13, 2024 Feb 22.
Article
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
NPJ Genom Med
Year:
2024
Document type:
Article
Affiliation country:
Canada
Country of publication:
United kingdom