The EGAPP initiative: Lessons learned

Ned Calonge, Roger D. Klein, Alfred O. Berg, Jonathan S. Berg, Katrina Armstrong, Jeffrey Botkin, Doug Campos-Outcalt, Benjamin Djulbegovic, Nancy L. Fisher, Theodore G. Ganiats, James E. Haddow, Maxine Hayes, A. Cecile J.W. Janssens, Celia Kaye, Donald O. Lyman, Kenneth Offit, Stephen G. Pauker, Kathryn A. Phillips, Margaret Piper, Carolyn Sue RichardsJoan A. Scott, Ora L. Strickland, Steven Teutsch, Sean R. Tunis, David L. Veenstra, Marc S. Williams, Doris T. Zallen

Research output: Contribution to journalReview articlepeer-review

44 Scopus citations


The Evaluation of Genomic Applications in Practice and Prevention Working Group was first convened in 2005 to develop and test evidence-based methods for the evaluation of genomic tests in transition from research to clinical and public health practice. Over the ensuing years, the Working Group has met 26 times, publishing eight recommendation statements, two methods papers, and one outcomes paper, as well as planning and serving as technical experts on numerous associated systematic reviews. Evaluation of Genomic Applications in Practice and Prevention methods have evolved to address implications of the proliferation of genome-wide association studies and are currently expanding to face challenges expected from clinical implementation of whole-genome sequencing tests. In this article, we review the work of the Evaluation of Genomic Applications in Practice and Prevention Working Group over the first 8 years of its existence 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.

Original languageEnglish (US)
Pages (from-to)217-224
Number of pages8
JournalGenetics in Medicine
Issue number3
StatePublished - Mar 2014
Externally publishedYes


  • Evidence-based medicine
  • Genetics
  • Guideline development
  • Public health genomics
  • Systematic review methods

ASJC Scopus subject areas

  • Genetics(clinical)


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