Application of routine electronic health record databases for pharmacogenetic research

J Intern Med. 2014 Jun;275(6):590-604. doi: 10.1111/joim.12226.


Inter-individual variability in drug responses is a common problem in pharmacotherapy. Several factors (non-genetic and genetic) influence drug responses in patients. When aiming to obtain an optimal benefit-risk ratio of medicines and with the emergence of genotyping technology, pharmacogenetic studies are important for providing recommendations on drug treatments. Advances in electronic healthcare information systems can contribute to increasing the quality and efficiency of such studies. This review describes the definition of pharmacogenetics, gene selection and study design for pharmacogenetic research. It also summarizes the potential of linking pharmacoepidemiology and pharmacogenetics (along with its strengths and limitations) and provides examples of pharmacogenetic studies utilizing electronic health record databases.

Keywords: electronic health records; pharmacogenetics.

Publication types

  • Review

MeSH terms

  • Electronic Health Records / statistics & numerical data*
  • Genetic Association Studies / methods*
  • Genetic Research*
  • Humans
  • Pharmacoepidemiology / methods
  • Pharmacogenetics / methods*
  • Research Design