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Review
. 2017 Aug;19(8):858-863.
doi: 10.1038/gim.2016.210. Epub 2017 Jan 12.

The current state of implementation science in genomic medicine: opportunities for improvement

Megan C Roberts  1 , Amy E Kennedy  1 , David A Chambers  1 , Muin J Khoury  1   2
Affiliations
Review

The current state of implementation science in genomic medicine: opportunities for improvement

Megan C Roberts et al. Genet Med. 2017 Aug.

Abstract

Purpose: The objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.

Methods: We conducted a literature review using the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.

Results: Our final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.

Conclusion: Although genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.Genet Med advance online publication 12 January 2017.

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Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Median percent racial/ethnic composition of study populations in studies that reported race/ethnicity.
Figure 2
Figure 2. Clinical applications of genetic/genomic tests examined in studies for which this field was applicable.
The majority of “multiple” included tests for which there were both cancer treatment and cancer prevention applications.
See this image and copyright information in PMC

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