Molecular Dx Significance 7/10

Race-Conscious Pharmacogenomics: Ancestry-Specific Variants and Equity in Drug Response

This review examines how racial and ancestral diversity in pharmacogenomic variants contributes to disparities in drug efficacy and toxicity, with 40-70% of patients experiencing suboptimal response. It discusses the evidence framework for clinical actionability and the role of diverse cohort studies in bridging discovery to implementation. The paper underscores the need for ancestry-inclusive reference panels in laboratory pharmacogenomic testing to avoid perpetuating health inequities.

The original study

Translational Pharmacogenomics: Discovery, Evidence Synthesis and Delivery of Race-Conscious Medicine.

Authors
Davis BH, Limdi NA
Journal
Clinical pharmacology and therapeutics
Type
Journal Article, Research Support, N.I.H., Extramural, Review
PMID
34233023
Read the original study →

Original abstract

Response to medications, the principal treatment modality for acute and chronic diseases, is highly variable, with 40-70% of patients exhibiting lack of efficacy or adverse drug reactions. With ~ 15-30% of this variability explained by genetic variants, pharmacogenomics has become a valuable tool in our armamentarium for optimizing treatments and is poised to play an increasing role in clinical care. This review presents the progress made toward elucidating genetic underpinnings of drug response including discovery of race/ancestry-specific pharmacogenetic variants and discusses the current evidence and evidence framework for actionability. The review is framed in the context of changing demographics and evolving views related to race and ancestry. Finally, it highlights the vital role played by cohort studies in elucidating genetic differences in drug response across race and ancestry and the informal collaborations that have enabled the field to bridge the "bench to bedside" translational gap.