Pharmacogenetics

Abstract

The goal of pharmacogenetics is to identify genetic differences among patients that influence treatment response. Pharmacogenetics also represents a tractable target for systematic studies, because key treatment responses are both clinically important and amenable to genetic investigation. Despite a number of paradigmatic studies, pharmacogenetics has to date only had a minimal impact in medicine. Here we outline several methodological considerations for implementation in future studies and also detail how we can best apply the lessons learned from extensive genetic studies on disease predisposition in order to advance the state of pharmacogenetic knowledge and to expedite the translation of pharmacogenetic find-ings into clinical practice. We conclude that while the study of common variation may provide some insight, like the study of disease predisposition itself, pharmaco-genetics will ultimately require characterization of rare human gene variants.