Horizon scanning for translational genomic research beyond bench to bedside

Genet Med. 2014 Jul;16(7):535-8. doi: 10.1038/gim.2013.184. Epub 2014 Jan 9.


Purpose: The dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. In this report, we provide a method for horizon scanning and 1 year data on translational research beyond bench to bedside to assess the validity, utility, implementation, and outcomes of such applications.

Methods: We compiled cross-sectional results of ongoing horizon scanning of translational genomic research, conducted between 16 May 2012 and 15 May 2013, based on a weekly, systematic query of PubMed. A set of 505 beyond bench to bedside articles were collected and classified, including 312 original research articles; 123 systematic and other reviews; 38 clinical guidelines, policies, and recommendations; and 32 articles describing tools, decision support, and educational materials.

Results: Most articles (62%) addressed a specific genomic test or other health application; almost half of these (n = 180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time.

Conclusion: These data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning of the translational genomics literature is crucial for an evidence-based translation of genomics discoveries into improved health care and disease prevention.

MeSH terms

  • Cross-Sectional Studies
  • Decision Support Techniques*
  • Evidence-Based Medicine*
  • Genomics*
  • Humans
  • Information Dissemination
  • Meta-Analysis as Topic
  • Translational Research, Biomedical*