Decade of Pharmacogenomic GWAS: Trends, Discoveries, and the Road to Biobank-Scale Studies
This review analyses ten years of genome-wide association studies in pharmacogenomics, cataloguing discoveries in both drug efficacy and adverse reactions across therapeutic areas. It highlights the growing contribution of data-sharing consortia and biobank-linked cohorts to statistical power. For laboratories moving toward panel-based or genome-wide pharmacogenomic testing, the review maps which variants have robust GWAS support and where gaps remain.
The original study
Genomewide Association Studies in Pharmacogenomics.
- Authors
- McInnes G, Yee SW, Pershad Y, Altman RB
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review
- PMID
- 34185318
Original abstract
The increasing availability of genotype data linked with information about drug-response phenotypes has enabled genomewide association studies (GWAS) that uncover genetic determinants of drug response. GWAS have discovered associations between genetic variants and both drug efficacy and adverse drug reactions. Despite these successes, the design of GWAS in pharmacogenomics (PGx) faces unique challenges. In this review, we analyze the last decade of GWAS in PGx. We review trends in publications over time, including the drugs and drug classes studied and the clinical phenotypes used. Several data sharing consortia have contributed substantially to the PGx GWAS literature. We anticipate increased focus on biobanks and highlight phenotypes that would best enable future PGx discoveries.