TY - JOUR
T1 - Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing
T2 - An EGAPP methods update
AU - Veenstra, David L.
AU - Piper, Margaret
AU - Haddow, James E.
AU - Pauker, Stephen G.
AU - Klein, Roger
AU - Richards, Carolyn Sue
AU - Tunis, Sean R.
AU - Djulbegovic, Benjamin
AU - Marrone, Michael
AU - Lin, Jennifer S.
AU - Berg, Alfred O.
AU - Calonge, Ned
PY - 2013/1
Y1 - 2013/1
N2 - 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.Genet Med 2013:15(1):14-24.
AB - 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.Genet Med 2013:15(1):14-24.
KW - evidence-based medicine/methods
KW - evidence-based medicine/standards
KW - genetics
KW - genomics/methods
KW - genomics/standards
KW - medical/methods
UR - http://www.scopus.com/inward/record.url?scp=84872062684&partnerID=8YFLogxK
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U2 - 10.1038/gim.2012.106
DO - 10.1038/gim.2012.106
M3 - Review article
C2 - 22955111
AN - SCOPUS:84872062684
SN - 1098-3600
VL - 15
SP - 14
EP - 24
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 1
ER -