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A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.

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Selected Category: EGAPP

Celebrating a Decade of Evidence-Based Evaluation of Genomic Tests

Categories: EGAPP, evidence-based medicine, genomics

Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

Ira Lubin, Doris Zallen, Dave Dotson, Sheri Schully, Marc Williams, Ned Calonge, Roger Klein, Muin Khoury and Cecile Janssens at the EGAPP meeting

Ira Lubin, Doris Zallen, Dave Dotson, Sheri Schully, Marc Williams, Ned Calonge, Roger Klein, Muin Khoury and Cecile Janssens at the EGAPP meeting

CDC’s Office of Public Health Genomics (OPHG) launched the Evaluation of Genomic Applications in Practice and Prevention Initiative (EGAPP) in 2004. The independent EGAPP Working Group (EWG) celebrated a decade of achievements and accomplishments at their meeting in Atlanta on October 27-28, 2014. The EWG is comprised entirely of volunteers, encompassing multiples areas of expertise who are committed to developing and applying evidence-based methods for evaluation of genomic tests for use in practice. The EWG has published four methods papers, as well as nine recommendation statements addressing genomic testing topics in oncology, psychiatry, cardiovascular disease, and diabetes. A few additional statements are in preparation.

During the past decade, the number of laboratories that offer genetic testing remained relatively flat, however, the number of diseases for which testing is available increased consistently and dramatically. As of November, 2014, there are more than 42,000 tests available for just over 4,000 disorders. In terms of raw numbers, the recommendations from a decade of EGAPP fall drastically short of covering the field. Nevertheless, EGAPP, dubbed by CDC as a pilot initiative, has been enormously influential in prioritizing tests for evaluation, determining what questions need to be asked and answered, and identifying where key crosscutting weaknesses in research must be addressed in genomics.

Evidence Matters in Genomic Medicine

Categories: EGAPP, evidence-based medicine, genomics

W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention

OMICSA new IOM report makes recommendations that aim to ensure that progress in omics-based test development is grounded in sound scientific evidence and is reproducible, resulting in improved health care and continued public trust in research.  Another new IOM roundtable workshop report discussed the differences in evidence required for clinical use, regulatory oversight, guideline inclusion, coverage, and reimbursement of genomic diagnostic tests and focused on ways to clarify pathways for using such tests in clinical settings. Recently, the NIH made a beta version of Genetic Test Registry (GTR) available online.  The GTR provides a central location for voluntary submission of genetic test information by developers. The GTR includes information on the test’s purpose, methodology, validity, evidence of the test’s usefulness, and laboratory contacts and credentials. Thegenome-based diagnostics information provided is not verified by NIH, but assumed to be accurate by the submitting party. The GTR will not obviate the need for evidence-based evaluation of genetic tests and development of recommendations. However it is on track towards becoming useful to advance research and clinical practice. 

 
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