This guidance is intended to assist the pharmaceutical industry and other investigators engaged in new drug development in evaluating how variations in the human genome, specifically DNA sequence variants, could affect a drug’s pharmacokinetics (PK), pharmacodynamics (PD), efficacy, or safety. The guidance provides recommendations on when and how genomic information should be considered to address questions arising during drug development and regulatory review.

The application of pharmacogenomic approaches during drug development is an evolving process that begins with discovery and continues through confirmation of clinical efficacy and safety outcomes. The focus of this guidance, however, is to provide advice on general principles of study design, data collection, and data analysis in early-phase trials. This guidance does not address trial design or statistical analysis considerations for later-phase, randomized, controlled clinical trials that are intended to draw definitive conclusions about treatment effects in a genomic subgroup (e.g., enrichment designs, adaptive enrichment designs, simultaneous hypothesis testing overall and within subgroups), or co-development of a drug and in vitro diagnostic.


Rather, the considerations here are more relevant for exploratory and observational studies intended to generate genomic hypotheses that may then be tested in prospectively designed phase 3 trials. For instance, early-phase data on genomic-dependent dosing or efficacy, even when not definitive, can provide guidance on dosing or patient selection in later-phase trials, or inform the strategy for further collection of genetic and related biomarker data in later controlled trials.


Posted on the FDA website on 29 January 2013