Pharmacogenomics in early-phase clinical development

Pharmacogenomics. 2013 Jul;14(9):1085-97. doi: 10.2217/pgs.13.81.


Pharmacogenomics (PGx) offers the promise of utilizing genetic fingerprints to predict individual responses to drugs in terms of safety, efficacy and pharmacokinetics. Early-phase clinical trial PGx applications can identify human genome variations that are meaningful to study design, selection of participants, allocation of resources and clinical research ethics. Results can inform later-phase study design and pipeline developmental decisions. Nevertheless, our review of the database demonstrates that PGx is rarely used by drug developers. Of the total 323 trials that included PGx as an outcome, 80% have been conducted by academic institutions after initial regulatory approval. Barriers for the application of PGx are discussed. We propose a framework for the role of PGx in early-phase drug development and recommend PGx be universally considered in study design, result interpretation and hypothesis generation for later-phase studies, but PGx results from underpowered studies should not be used by themselves to terminate drug-development programs.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents / pharmacokinetics
  • Antineoplastic Agents / therapeutic use*
  • Clinical Trials as Topic
  • Databases, Factual
  • Dose-Response Relationship, Drug
  • Genome, Human
  • Genome-Wide Association Study
  • Humans
  • Neoplasms / drug therapy*
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Pharmacogenetics*
  • Polymorphism, Single Nucleotide


  • Antineoplastic Agents