New Products from the EGAPP Working Group: Further Development of Evidence Review Methodology and More Recommendations in Genomic Medicine

The independent EGAPP working group (EWG) held its 27^th meeting on May 13-14, 2013 via a virtual online venue. The EWG has been very active since the last meeting.  Highlights included:

• The EWG has four new publications since the last meeting:
  • Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?, recently published in Genetics in Medicine;
  • Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?, recently published in Genetics in Medicine;
  • Description and pilot results from a novel method for evaluating return of incidental findings from next generation sequencing technologies, recently published in Genetics in Medicine; and
  • Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update [PDF 367.61 KB], recently published in Genetics in Medicine.
• Two EWG recommendation statements on the validity and utility of genetic tests are pending publication on:
  • Multigene panels in prostate cancer risk assessment, based on an evidence review conducted through AHRQ , is being finalized and prepared for peer review; and
  • PCA3 testing in the diagnosis and management of prostate cancer based on an evidence review, conducted through the AHRQ Effective Health Care Program (EHC), is out for peer review.
• The Knowledge Synthesis Center (KSC) presented an update on two systematic reviews:  familial hypercholesterolemia and colorectal cancer screening – the latter topic is being done in conjunction with modeling by NCI /CISNET .

• The EWG heard a presentation on an ongoing review by the KSC, on MSI status and response to 5FU chemotherapy in Lynch syndrome patients, to consider drafting a recommendation.

In an effort to further the field of evidence-based review processes, the past and present EWG members have submitted a manuscript to Genetics in Medicine entitled, “The EGAPP Initiative:  Lessons Learned” to inform stakeholders of the possibilities and pitfalls of their efforts. Furthermore, the EWG expects to have three additional new recommendations and one to two recommendation updates in the next year.

The next EGAPP Working Group meeting will be held on August 19-20, 2013 in Atlanta, GA.