Journal Articles

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research

April 27, 2017

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research, Genetics in Medicine, Kathryn A. Phillips PhDPatricia A. Deverka MD, MS,  Harold C. Sox MDMuin J. Khoury MD, PhDLewis G. Sandy MD, FACPGeoffrey S. Ginsburg MD, PhDSean R. Tunis MD, MScLori A. Orlando MD, MHS, Michael P. Douglas MS

  • Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), UCSF Philip R. Lee Institute for Health Policy and UCSF Helen Diller Family Comprehensive Cancer Center, University of California at San Francisco, San Francisco, California, USA
  • American Institutes for Research, Chapel Hill, North Carolina, USA
  • Patient-Centered Outcomes Research Institute, Washington, DC, USA
  • Office of Public Health Genomics, US Centers for Disease Control and Prevention, Atlanta, Georgia, USA
  • UnitedHealth Group, Minnetonka, Minnesota, USA
  • Duke Center for Applied Genomics and Precision Medicine, Duke University Medical Center, Durham, North Carolina, USA
  • Center for Medical Technology Policy, Baltimore, Maryland, USA
  • Division of General Internal Medicine, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
  • University of California at San Francisco, Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), San Francisco, California, USA

 

Abstract

Comparative effectiveness research (CER) in genomic medicine (GM) measures the clinical utility of using genomic information to guide clinical care in comparison to appropriate alternatives. We summarized findings of high-quality systematic reviews that compared the analytic and clinical validity and clinical utility of GM tests. We focused on clinical utility findings to summarize CER-derived evidence about GM and identify evidence gaps and future research needs. We abstracted key elements of study design, GM interventions, results, and study quality ratings from 21 systematic reviews published in 2010 through 2015. More than half (N = 13) of the reviews were of cancer-related tests. All reviews identified potentially important clinical applications of the GM interventions, but most had significant methodological weaknesses that largely precluded any conclusions about clinical utility. Twelve reviews discussed the importance of patient-centered outcomes, although few described evidence about the impact of genomic medicine on these outcomes. In summary, we found a very limited body of evidence about the effect of using genomic tests on health outcomes and many evidence gaps for CER to address.

 

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