A critical appraisal of pharmacogenetic inference

Clin Genet. 2018 Mar;93(3):498-507. doi: 10.1111/cge.13178. Epub 2018 Feb 7.

Abstract

In essence, pharmacogenetic research is aimed at discovering variants of importance to gene-treatment interaction. However, epidemiological studies are rarely set up with this goal in mind. It is therefore of great importance that researchers clearly communicate which assumptions they have had to make, and which inherent limitations apply to the interpretation of their results. This review discusses considerations of, and the underlying assumptions for, utilizing different response phenotypes and study designs popular in pharmacogenetic research to infer gene-treatment interaction effects, with a special focus on those dealing with of clinical effects of drug treatment.

Keywords: epidemiology; inference; pharmacogenetics; statins.

Publication types

  • Review

MeSH terms

  • Clinical Trials as Topic
  • Disease Susceptibility
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / pharmacology
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Pharmacogenetics* / methods
  • Pharmacogenomic Variants*
  • Phenotype
  • Precision Medicine
  • Research / trends
  • Research Design

Substances

  • Hydroxymethylglutaryl-CoA Reductase Inhibitors