Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update

Abstract

To provide an update on recent revisions to Evaluation of Genomic Applications in Practice and Prevention (EGAPP) methods designed to improve efficiency, and an assessment of the implications of whole genome sequencing for evidence-based recommendation development. Improvements to the EGAPP approach include automated searches for horizon scanning, a quantitative ranking process for topic prioritization, and the development of a staged evidence review and evaluation process. The staged process entails (i) triaging tests with minimal evidence of clinical validity, (ii) using and updating existing reviews, (iii) evaluating clinical validity prior to analytic validity or clinical utility, (iv) using decision modeling to assess potential clinical utility when direct evidence is not available. EGAPP experience to date suggests the following approaches will be critical for the development of evidence based recommendations in the whole genome sequencing era: (i) use of triage approaches and frameworks to improve efficiency, (ii) development of evidence thresholds that consider the value of further research, (iii) incorporation of patient preferences, and (iv) engagement of diverse stakeholders. The rapid advances in genomics present a significant challenge to traditional evidence based medicine, but also an opportunity for innovative approaches to recommendation development.

Conflict of interest statement

DISCLOSURE

David Veenstra reports that he was a consultant for Medco, Novartis Molecular Diagnostics, and Genentech, and is supported by the following genomics-related research grants: P50HG003374, RC2CA148570, UO1GM092676, and UO1HG006507 from the National Institutes of Health and U18GD000005 from the Centers for Disease Control and Prevention. Stephen Pauker reports that a research study of his was supported by a fund from Novartis to Tufts Medical Center. Sean Tunis has no personal conflicts of interest to disclose. The Center for Medical Technology Policy receives funding from several sources, listed at http://www.cmtpnet.org/about/funding-sources/. The other authors declare no conflict of interest.

Figures

Figure 1. Steps in staged evidence review and evaluation process

AV, analytic validity; CU, clinical utility; C V, clinical validity; ER, evidence review.