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

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.Genet Med advance online publication 13 April 2017.

Figure 1

Study design. We conducted a structured literature review by abstracting information from each included review and then summarizing the results (Table 1; Supplementary Materials online). The reviews, along with interviews and assessments by the Technical Working Group, were used to develop the landscape analysis.

Figure 2

PRISMA diagram. We conducted a structured literature review and identified 348 total evidence reviews on the Technical Assessment Websites. After screening, we included 21 in the study.