Clinical decision support for genetically guided personalized medicine: a systematic review

J Am Med Inform Assoc. 2013 Mar-Apr;20(2):388-400. doi: 10.1136/amiajnl-2012-000892. Epub 2012 Aug 25.


Objective: To review the literature on clinical decision support (CDS) for genetically guided personalized medicine (GPM).

Materials and methods: MEDLINE and Embase were searched from 1990 to 2011. The manuscripts included were summarized, and notable themes and trends were identified.

Results: Following a screening of 3416 articles, 38 primary research articles were identified. Focal areas of research included family history-driven CDS, cancer management, and pharmacogenomics. Nine randomized controlled trials of CDS interventions for GPM were identified, seven of which reported positive results. The majority of manuscripts were published on or after 2007, with increased recent focus on genotype-driven CDS and the integration of CDS within primary clinical information systems.

Discussion: Substantial research has been conducted to date on the use of CDS to enable GPM. In a previous analysis of CDS intervention trials, the automatic provision of CDS as a part of routine clinical workflow had been identified as being critical for CDS effectiveness. There was some indication that CDS for GPM could potentially be effective without the CDS being provided automatically, but we did not find conclusive evidence to support this hypothesis.

Conclusion: To maximize the clinical benefits arising from ongoing discoveries in genetics and genomics, additional research and development is recommended for identifying how best to leverage CDS to bridge the gap between the promise and realization of GPM.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Bibliometrics
  • Biomedical Research / trends
  • Decision Support Systems, Clinical* / trends
  • Humans
  • Neoplasms / therapy
  • Pharmacogenetics
  • Precision Medicine* / trends