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EGAPP Working Group Meeting June 15-16, 2009


Hilton Garden Inn/Millennium Center Atlanta Airport, Georgia



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Executive Session
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (EWG) members met in closed Executive Session from 8:00 to 9:30 am on Tuesday, June 16, 2009.


Subcommittee Meetings
Topics, Methods and Products Subcommittee meetings were held from 9:30 – 10:30 am on Monday, June 15, 2009 to finalize deliberations and presentations for the full EWG.


Welcome – Opening Remarks
Al Berg welcomed the EWG members to the meeting and asked each EWG member to introduce themselves.  Al Berg outlined a few housekeeping items and welcomed Paul Kimmel from NIDDK.


Members of the EWG in attendance were: Al Berg, MD, MPH, Chair; Ned Calonge, MD, MPH; Doug Campos-Outcalt, MD, MPA; James Haddow, MD; Maxine Hayes, MD, MPH; Celia Kaye, MD, PhD; Roger D. Klein, MD, JD; Kenneth Offit, MD, MPH; Stephen Pauker, MD, MACP, FACC, ABMH; Margaret Piper, PhD, MPH; Sue Richards, PhD, FACMG; Joan Scott, MS, CGC; Ora Strickland, PhD; Steve Teutsch, MD, MPH; and Dave Veenstra, PharmD, PhD.
Core consultants in attendance included: Judy Johnson, PhD; and Glenn Palomaki, BS


EGAPP Status Updates
Dave Dotson introduced the team members including new team member Daurice Grossniklaus.  A review of the meeting agenda was conducted.  The EWG was updated on key items including:


Executive Session
Working Group members met for an additional executive session.


Evaluation Updates

During the working lunch, Judy Johnson outlined the extent of the ongoing EWG evaluation. 

For the next meeting a discussion of the key findings of the evaluation should be planned.  A review of the report should be conducted with representatives from the EWG and the evaluator prior to the next meeting.


Factor V Leiden Review EPC Report

Jodi Segal from the EPC that conducted the evidence report entitled “Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism” presented their findings.  The final report was turned over to the CDC and distributed to the EWG. A link to the report can be found on the EWG web site at


Methods SC – Model for Topic Selection
Dave Veenstra presented the work of the methods SC on modeling for topic selection.  These include a more efficient process to conduct rapid reviews and staged reviews.  The existing reviews were modeled using the proposed framework.  This modeling was quantitative and would have allowed us to say when a topic was ready to move forward to the final stage of a complete review.


The use of a pathway to generate a lot more evidence reviews/recommendations would be helpful because it would allow us to stop short of a complete review on many of the topics.  However, using a stop pathway would limit the identification of the “gaps in knowledge.”


Decision making models
Steve Pauker presented the work of the Methods SC on models for patient decision making.  The classic methods of making patient decisions were outlined (doctor, informed consent, and shared decision making) and the concept of modeling to inform patient decision making was discussed.  The Modeling Process involves:


Breakout session report - CVD recommendation writing
Ned Calonge reported for the CVD recommendation writing breakout session. 

The EWG discussed whether the 9p21 SNP should be treated separately.  The EWG elected to include a separate section on 9p21 in the report that would also include reclassification analyses involving 9p21. restaurant

The EWG discussed journal selection, and EWG members agreed that JAMA or Annals of Internal Medicine would be a good choice for the evidence review.  The EWG also discussed separating the evidence review and recommendation. 


Factor V Leiden Report – Jim Haddow
Jim Haddow presented the results of the breakout session to develop the Factor V Leiden recommendation. 

There is a need for experts with hematologic understanding to review the draft recommendation.  Several individuals were suggested.  The EWG reviewed the needs for each of the background, AV, CV, and CU sections.


Muin Khoury presented to the EWG on the OPHG initiative entitled Genomic Applications in Practice and Prevention (GAPPNet).  GAPPNet is a network of stakeholders that is involved in evidence-based recommendations, translation programs, translation research, and knowledge synthesis & dissemination.  The GAPPNet web site is online and there is a paper describing the “network” in press.  The component projects of GAPPNet, specifically EGAPP and HuGE have been launched.  The GAPPNet knowledge base is in development.  An official kickoff GAPPNet meeting is being scheduled for October 29-30, 2009.


Products Subcommittee Report
Celia Kaye presented the outcomes of the Products SC breakout session.  The main topics for discussion were translation products and future items for the products SC. 


Translated products
The Products SC reviewed drafts for each of the four published recommendations have been created by CDC staff.  The Products SC and a member of the writing group for each of the recommendations provided input.  These products will be available on the OPHG’s web site in the near future.


The office of health marketing is conducting health message testing on one of the products on Lynch Syndrome.  


Future items
The Products SC goal is to aid in the development of translated products as new recommendations are being finalized.  The Products SC thought involving the ESG in this process would be very helpful.


Topics Subcommittee Report
Joan Scott presented the outcomes of the Topics SC breakout session.  The main topic for discussion was the prioritization of topics for upcoming evidence reviews.


The SC reviewed the past prioritization of topics and made a recommendation to the full EWG for their review. The topics for review are:

Maggie Piper presented the results of the Blue Cross Blue Shield report on array CGH and developmental delay.  The report can be found on the BCBS TEC web site.  Some key points of the presentation are:

The EWG discussed the prioritization of cancer topics, and then how to continue with aCGH.  The EWG thought the CYP2D6 and tamoxifen review is large and has new data and it was suggested to conduct this review with an IAA agreement with AHRQ.  The breast cancer/prostate cancer reviews could be done in-house.  The EWG thought it would be helpful to build off the BCBS report for the aCGH report. 


Wrap up and action items
Al Berg, Ora Strickland and Steve Pauker will be reviewing the results of the evaluation in late August/September.

The EGAPP Steering Committee is having their annual meeting on August 7th. 

Provisional TEP members for the Tamoxifen/CYP2D6 review are Ken Offit and Dave Veenstra.

Provisional TEP members for the array cGH review are Sue Richards, Celia Kaye and Doug Campos-Outcalt.


Closing Remarks
Al Berg expressed that the meeting was terrific and thanked everyone for their participation and the meeting was adjourned at 12:30pm





The next EGAPP Working Group Meeting is scheduled for Monday & Tuesday,
October 5-6, 2009 in Atlanta.


Historical Document
Page last updated: July 31, 2009
Page last reviewed: December 23, 2008
Content Source: OPHG Staff