Working Group: Methods

The independent EGAPP Working Group has developed new approaches and optimized existing methods for collecting, analyzing and grading evidence on analytic and clinical validity and clinical utility of genetic and genomic tests. These methods are described in an article in Genetics in Medicine.

The independent EGAPP Working Group has developed new approaches and optimized identification and appropriate weighting of relevant health outcomes from genetic testing. The framework used by EGAPP in considering, categorizing, and weighting health-related outcomes as applied to genomic technologies is described in an article in Genetics in Medicine.

The rapid advances in genomics present a significant challenge to traditional evidence based medicine, but also an opportunity for innovative approaches to recommendation development. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group has recently updated their methods 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. These updated methods are described in an article in Genetics in Medicine.

The EGAPP Working Group has been working to advance the field of next-generation sequencing and has published an recent article entitled “Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies” in Genetics in Medicine.

The EGAPP Working Group has been working for over 8 years and has published an article with an emphasis on lessons learned throughout the process. It is hoped that in addition to the published methods of the Working Group, the lessons we have learned along the way will be informative to others who are producers and consumers of evidence-based guidelines in the field of genomic medicine.