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EGAPP Working Group Meeting June 27-28, 2011


Atlanta, Georgia



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EGAPP Working Group members present:
Al Berg, MD, MPH; Ned Calonge, MD, MPH, chair; Doug Campos-Outcalt, MD, MPA; Ted Ganiats, MD; Roger D. Klein, MD, JD; Don Lyman, MD, DTPH; Ken Offit, MD, MPH; Margaret Piper, PhD, MPH; Ora Strickland, PhD; and David L. Veenstra, PharmD, PhD


Opening Statement and Welcome
Ned Calonge welcomed all the EGAPP Working Group (EWG) members to Atlanta and to the meeting.  He announced that Nancy fisher has taken a position with Center for Medicaid and Medicare Services and is no longer eligible to participate in the EGAPP Working Group, since her new position is for the Federal Government.  Jim Haddow has resigned from the EWG.

Dr. Khoury presented an update on the status of CDC’s Office of Public Health Genomics (OPHG), and the EGAPP Initiative.  The presentation included the 2011 OPHG budget, an update on the personnel currently still in OPHG and a 10 point re-arrangement update on projects.  A September 14, 2011 external stakeholder event for direction in next few years was announced.  Dr. Khoury announced support to keep EGAPP going at the least through September 2012.  In order to do this, he recommended focusing on three items:


In conclusion, Dr. Khoury emphasized that EGAPP is still a priority.  That no other organization stepped up to help fund EGAPP and that OPHG will continue funding at the highest level they could.
Ned Calonge led the EWG in an open discussion on the future of EGAPP and the presentation made by Dr. Khoury. 
The presentation outlined a basic mandate for future of genomic evidence and all genomics.  Overall, what’s really needed now is what’s the added need or value?  Horizon scanning is critical to complete the need to see over the horizon rather than just individual tests in the moment.  Methodologies are the big elephant, as exoms are being sequenced, and methods to review specifics are difficult.  The GWAS with rare variants are coming to a close; the more common variants are going to be big research now, and efficacy of these methods will be key. 
The EWG discussed whole genome or ultra-high throughput screening.  Whole genome sequencing for rare diseases has been successfully used to identify specific rare diseases/conditions and the biggest use of this technology is gene banks.  The costs are coming down rapidly.  Why wouldn’t someone use genome sequence if the cost is approximately $1000 vs. $3000 for a specific test for 1 disease/condition? 
The EWG discussed concentrating on cataloging what is the most important issues, then stimulating research/review of those areas.  AHRQ, Cochrane, other countries, other individuals show the biggest need is to help the average clinician on what tests should be done. 
We have a great review methodology.  The key is to put it to use and show that it works well.  Could we propose a way to review a test type or setup a group of requirements for manufacturers to meet and classify a group of tests as useful?
Cecile Janssens has published a multiple gene model and how to approach multiple SNPs. The basic principal deals with calculating the number of genes needed with small ORs to make a productive/useful benefit. The EGAPP CVD and T2D are topics we have in place that demonstrate this process.

Status Update
Dave Dotson provided a brief overview of the current status of various EGAPP projects.  These updates include a review of current evidence reviews and recommendations underway, current status of staffing, update of the methods update manuscript, and an update on the lessons learned manuscript.

Type 2 Diabetes
Michael Douglas presented a brief overview of the current status of the Type 2 Diabetes (T2D) Review and Recommendation.  These updates included a few minor changes to the ORs and the modeling based on some updated calculations.
The EWG suggested the recommendation focus on the general population risk of T2D. 


kRAS/BRAF and CRC review/recommendation
Dave Dotson presented a brief overview of the current status of the kRAS/BRAF and Colorectal Cancer recommendation.  The full clinical scenario was defined for the recommendation.
The EWG discussed the evidence to recommend for/against the test.  The EWG discussed specifically the harm of doing the kRAS mutation analysis test versus any benefit of obtaining the result.  Further discussion occurred later in the meeting.


kRAS/BRAF Recommendation Discussion
Dave Dotson led a discussion with the TEP leader.  The recommendation statement and manuscript was edited during the discussion.  The EWG elected to separate the recommendation for kRAS mutation analysis and the other gene testing (NRAS, or PIK3CA, and/or loss of expression of PTEN or ATK).  Specific edits are embargoed until the publication of the manuscript.

T2D evidence review/recommendation
Michael Douglas led a discussion with the TEP leader.  The recommendation statement was edited during the discussion.  The EWG elected to separate the recommendation for the two clinical scenarios, and focus on the general population.  Specific edits are embargoed until the publication of the manuscript.

Methods Update and Lessons Learned Breakout sessions
Ned Calonge charged the EWG members to work effectively during two breakout sessions.  The first is the Methods Update manuscript and the Lessons Learned manuscript.  The methods Update manuscript was attended by Maggie Piper, Roger Klein, Jennifer Lin, Dave Veenstra, Ted Ganiants, and Michael Douglas.  The Lessons Learned manuscript was attended by Al Berg, Ned Calonge, Don Lyman, Ken Offit, Ora Strickland, Katrina Goddard, and Dave Dotson.
Each of the breakout session teams worked on making edits to the manuscripts during the breakout sessions.  The writers from each manuscript identified the individuals needed to further each manuscript section.  The timeline for the manuscript work is as follows:  July 13th – comments needed on draft, August 1st – incorporation of comments, August 15th – comments on final draft during the monthly conference call, and September – final draft, peer review, and submission to journal.

Wrap-up and Adjourn

Ned thanked the EGAPP Staff and the meeting was adjourned at 1pm eastern.



The next EGAPP Working Group Meeting is scheduled for Monday & Tuesday,
September 26 -27, 2011 in Atlanta, GA.


Historical Document
Page last updated: September 12, 2013
Page last reviewed: September 12, 2013
Content Source: OPHG Staff