title: 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.
authors.affiliation: Department of Pharmacy, Pharmaceutical Outcomes Research and Policy Program, Institute for Public Health Genetics, University of Washington, Seattle, Washington, USA. veenstra@uw.edu
authors.forename: David L
authors.initials: DL
authors.lastname: Veenstra
authors.forename: Margaret
authors.initials: M
authors.lastname: Piper
authors.forename: James E
authors.initials: JE
authors.lastname: Haddow
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Pauker
authors.forename: Roger
authors.initials: R
authors.lastname: Klein
authors.forename: Carolyn Sue
authors.initials: CS
authors.lastname: Richards
authors.forename: Sean R
authors.initials: SR
authors.lastname: Tunis
authors.forename: Benjamin
authors.initials: B
authors.lastname: Djulbegovic
authors.forename: Michael
authors.initials: M
authors.lastname: Marrone
authors.forename: Jennifer S
authors.initials: JS
authors.lastname: Lin
authors.forename: Alfred O
authors.initials: AO
authors.lastname: Berg
authors.forename: Ned
authors.initials: N
authors.lastname: Calonge
mesh_terms: D019317:Evidence-Based Medicine; D005820:Genetic Testing; D015894:Genome, Human; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D010380:Peer Review; D011785:Quality Assurance, Health Care