Pharmacogenomics in clinical practice and drug development

Nat Biotechnol. 2012 Nov;30(11):1117-24. doi: 10.1038/nbt.2424. Epub 2012 Nov 8.


Genome-wide association studies (GWAS) of responses to drugs, including clopidogrel, pegylated-interferon and carbamazepine, have led to the identification of specific patient subgroups that benefit from therapy. However, the identification and replication of common sequence variants that are associated with either efficacy or safety for most prescription medications at odds ratios (ORs) >3.0 (equivalent to >300% increased efficacy or safety) has yet to be translated to clinical practice. Although some of the studies have been completed, the results have not been incorporated into therapy, and a large number of commonly used medications have not been subject to proper pharmacogenomic analysis. Adoption of GWAS, exome or whole genome sequencing by drug development and treatment programs is the most striking near-term opportunity for improving the drug candidate pipeline and boosting the efficacy of medications already in use.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping / methods*
  • Chromosome Mapping / trends
  • Drug Design*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Pharmacogenetics / methods*
  • Pharmacogenetics / trends
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / trends