Working Group Meeting February 11-12, 2013
Atlanta, Georgia
MEETING SUMMARY
EGAPP Working Group members present:
Jonathan Berg, MD/PhD, FACMG; Ned Calonge, MD, MPH, chair; Doug Campos-Outcalt, MD, MPA; Ben Djulbegovic, MD; Ted Ganiats, MD; Cecile Janssens, PhD; Roger D. Klein, MD, JD; Ken Offit, MD, MPH; Stephen Pauker, MD, MACP, FACC, ABMH; Ora Strickland, PhD; Sean Tunis, PhD; Marc Williams, MD, FAAP, FACMG; and Doris Zallen, PhD
Welcome and Opening Statement
Ned Calonge opened the meeting by welcoming the EGAPP Working Group (WG) members, Knowledge Synthesis Center (KSC) Members, and CDC staff. Each person introduced themselves and provided a brief summary of their involvement.
EGAPP updates
Dave Dotson presented an update and review of the briefing book for the meeting. Michael Marrone (John’s Hopkins) and Allison Stewart (PGH Foundation) will be wrapping up their work soon on the Breast Cancer Gene Expression Profiling Update and the CYP2D6/clopidigril recommendation, respectively. Both will be presenting at the meeting.
In other news, the EGAPP WG has submitted for publication two new recommendations for Kras/BRAF testing in Colorectal Cancer and Genetic testing for Type 2 Diabetes risk assessment. Both have been accepted and awaiting publication in Genetics in Medicine.
The EGAPP WG, in collaboration with the KSC, has submitted for publication a Whole Genome Sequencing (WGS) binning manuscript, a EGAPP WG lessons learned manuscript is in draft format and two additional reviews/recommendations are pending: Familial Hypercholesterolemia testing and a colorectal cancer modeling project.
CDC updates
Muin Khoury presented the latest news from the Office of Public Health Genetics. Maggie Piper has resigned her position on the EGAPP Working Group.
He presented the 15th anniversary of Public Health Genomics (1997-2012) with a review of implementation strategies, NIH forging ahead and moving OPHG forward.
A brief presentation of the weekly update format was demonstrated. The new strategies ongoing at the PHG Foundation were reviewed. Karen Greendale is leading the implementation of state click map with resources by state for genetic counselors, physicians and the consumer.
He also presented the Healthy people 2020 presentation related to genomics objectives and the ongoing initiatives that NHGRI is working on.
He also gave the EWG notification of a meeting next month for Methods in Bethesda, MD and some EWG members are invited. He outlined organizational changes at CDC and the uncertainties in OPHG funding with government budget cuts.
He expressed his support for the amount of production of writing/manuscripts from the EWG is outstanding since the last meeting with several pending publications.
Familial Hypercholesterolemia – Katrina Goddard
Katrina Goddard presented an update from the KSC on the ongoing Familial Hypercholesterolemia (FH). She presented background and existing FH criteria for clinical diagnosis. There is no one clinical definition for FH. The clinical criteria vs. molecular criteria for FH were presented, as well as, FH mutations in relation to cholesterol levels.
The 3 key questions were discussed:
- Key Question 1: In the absence of a gold standard, how well do each of the seven diagnostic criteria for FH predict intermediate or patient-relevant health outcomes?
- Key Question 2a: What is the concordance of FH diagnosis between the seven diagnostic criteria in FH index cases?
- Key Question 2b: What is the concordance of FH diagnosis between the seven diagnostic criteria in first degree relatives?
The inclusion/exclusion criteria for studies were discussed in depth, as well as, the search criteria.
A timeline was proposed.
The full presentation is embargoed until the review is published.
CRC collaboration update
Nora Henrikson presented an update on the CRC/CISNET collaboration on behalf of the KSC. Members of the team were introduced and/or acknowledged. The goals of the discussion were outlined as: summarize scoping/framing activities since September meeting; present work plan, key questions, and timeline; and discuss the potential products of collaboration.
The options of framing the key questions as a systematic review vs. modeling were discussed. The modeling approach fits much better. The work plan including the analytic framework and key questions were discussed.
The full presentation is embargoed until the review is published.
NGS/WGS Binning Report – Katrina
Katrina Goddard reported on the NGS/WGS project. The WGS manuscript submitted to GIM and accepted. Publication is pending in the next few months.
EGAPP WG Future Planning
The EGAPP WG had a private discussion with Muin Khoury to discuss the future of the EGAPP Initiative with the budget cuts.
PCA3 testing for prostate cancer recommendation – Michael
Michael Douglas presented the latest PCA3 testing for prostate cancer recommendation. Minor word-smithing of recommendation statement was completed. He will make minor changes and send for peer review. Contacts for peer review were requested from EWG members.
Lynch Syndrome and endometrial cancer
Alison Stewart presented and overview of endometrial cancer/lynch syndrome. A review of tumor testing for lynch syndrome in endometrial cancer patients including analytic validity (MSI, IHC), clinical validity (MSI, IHC). Selection of patients for referral for germline DNA testing was reviewed – methylation testing, testing of MMR genes. Clinical Utility data is limited for unselected women diagnosed with endometrial cancer. Treatment of lynch syndrome endometrial cancer vs. endometrial cancer is not different. One cost-effectiveness analysis was found. Implications for relatives was reviewed. Gaps in knowledge were reviewed.
Breast Cancer Gene Expression Panels Update – Michael Marrone
Michael Marrone presented an update on the Breast Cancer Gene Expression Panels review update. The previous EGAPP recommendation was reviewed. A review of recent “non-EGAPP” recommendations were presented. The key questions were reviewed and the types of studies were reviewed.
Cost effectiveness narrative of existing studies and summary of quality assessments were reviewed.
Public comments
There were no public comments.
Wrap-Up and adjorn
Ned Calonge thanked the EGAPP WG members for their time and adjourned the meeting at noon.
The next EGAPP Working Group Meeting is scheduled for Monday & Tuesday,
May 13 -14, 2013, virtual.