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

Details

• Alternative Title:
  Genet Med
• Personal Author:
  Veenstra, David L. ; Piper, Margaret ; Haddow, James E. ; Pauker, Stephen G. ; Klein, Roger ; Richards, Carolyn Sue ; Tunis, Sean R. ; Djulbegovic, Benjamin ; Marrone, Michael ; Lin, Jennifer S. ; Berg, Alfred O. ; Calonge, Ned
• Description:
  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.
• Keywords:
  Evidence-Based Medicine Evidence-based Medicine/Methods Evidence-based Medicine/Standards Genetics Genetic Testing Genome, Human Genomics Genomics/Methods Genomics/Standards High-Throughput Nucleotide Sequencing Humans Medical/Methods Peer Review Quality Assurance, Health Care

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• Source:
  Genet Med. 15(1):14-24
• Pubmed ID:
  22955111
• Pubmed Central ID:
  PMC3932295
• Document Type:
  Journal Article
• Funding:
  P50HG003374/HG/NHGRI NIH HHSUnited States/ ; UO1GM092676/GM/NIGMS NIH HHSUnited States/ ; RC2 CA148570/CA/NCI NIH HHSUnited States/ ; U01 HG006507/HG/NHGRI NIH HHSUnited States/ ; U18 GD000076/GD/OGDP CDC HHSUnited States/ ; U01 GM092676/GM/NIGMS NIH HHSUnited States/ ; U18GD000005/GD/OGDP CDC HHSUnited States/ ; RC2CA148570/CA/NCI NIH HHSUnited States/ ; GD000005/GD/OGDP CDC HHSUnited States/ ; P50 HG003374/HG/NHGRI NIH HHSUnited States/ ; UO1HG006507/HG/NHGRI NIH HHSUnited States/ ; U18 GD000005/GD/OGDP CDC HHSUnited States/
• Volume:
  15
• Issue:
  1
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:dcc1fc5d63df54b912fe58014f6984e8d78117e0617ace7d30ef1a97b3b9c235
• Download URL:
  https://stacks.cdc.gov/view/cdc/33663/cdc_33663_DS1.pdf
• File Type:
  [PDF - 742.32 KB ]