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

Horizon scanning for translational genomic research beyond bench to bedside

Mindy Clyne  1 , Sheri D Schully  2 , W David Dotson  3 , Michael P Douglas  4 , Marta Gwinn  4 , Katherine Kolor  3 , Anja Wulf  5 , M Scott Bowen  3 , Muin J Khoury  6
Affiliations

Horizon scanning for translational genomic research beyond bench to bedside

Mindy Clyne et al. Genet Med. 2014 Jul.

Abstract

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.

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Figures

Figure 1
Figure 1
Horizon Scanning Publications that Addressed a Specific Genomic Test or Health Application, by Indication, with Proportion Related to Cancer (May 16, 2012–May 15, 2013)
See this image and copyright information in PMC

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