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EGAPP Working Group Meeting, May 19-20, 2008


Hilton Garden Inn Atlanta Airport / Millenium Center - Atlanta, GA



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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.


Subcommittee Meetings
Topics, Methods and Products Subcommittee meetings were held from 9:30 – 10:30 am on Monday, May 19, 2008 to finalize deliberations and presentations for the full EWG.


Welcome – Opening Remarks
The EWG meeting was convened by Dr. Al Berg.  Dr. Berg welcomed the EWG and provided a brief review of the EGAPP Initiative.   He spoke of the broad interest in the EGAPP Initiative and welcomed the new EWG member Stephen Pauker MD, MACP, FACC, AMBH who was in attendance.  The other new EWG members announced were: Doug Campos-Outcalt MD, MPA; Roger Klein MD, JD; Kenneth Offit MD, MPH; and David Veenstra PharmD, PhD. 


Members of the EWG in attendance were: Al Berg, MD, MPH, Chair; Katrina Armstrong, MD, MSCE; Jeff Botkin, PhD, MPH; Ned Calonge, MD, MPH; James Haddow, MD; Maxine Hayes, MD, MPH; Celia Kaye, MD, PhD; Stephen Pauker, MD, MACP, FACC, ABMH; Kathryn Phillips, PhD; Margaret Piper, PhD, MPH
Sue Richards, PhD, FACMG (via telephone Monday); Joan Scott, MS, CGC (via telephone Monday and Tuesday); Ora Strickland, PhD; and SteveTeutsch, MD, MPH. 


Core consultants in attendance included: Elizabeth A. Balkite, MS, CGC; and Glenn Palomaki, BS


EGAPP Staff Updates
Dave Dotson reviewed the handout materials, provided an outline of the meeting agenda and major meeting objectives.


An EGAPP Stakeholders Group update was provided.  Their next meeting will be held on July 30-31, 2008 in Seattle, WA. 


An update on the EWG web site was provided including the new content on the web site FAQs, web site statistics, and the upcoming web site modifications.


ECRI has abstracted the CYP450 recommendation for the National Guidelines Clearinghouse and a draft was provided for EWG comments. 


Type 2 Diabetes Panel Review – Discussion and Planning
Glenn Palomaki presented the preliminary background material for the upcoming Type 2 Diabetes Panel Review that has been commissioned by the EWG.  Three possible clinical scenarios were reviewed.


The EWG discussed the make up of the Technical Expert Panel.  They determined it was important to have input from an endocrinologist.  It was also suggested to involve a primary care doctor and/or internist.  The Technical Expert Panel for the review will consist of the following EWG members:  Maxine Hayes, Maggie Piper and Steve Teutsch.  Additionally, the EWG would like to invite Doug Campos-Outcalt, a new EWG member, to join the Technical Expert Panel.


Presentation and Discussion of Cardiovascular Disease Draft Evidence Report
Glenn Palomaki began with a discussion on how they defined/categorized cardiovascular disease and research on which genes to examine.  The preliminary research suggested more than 100 genes/polymorphisms were possible. Therefore, the review has been limited to specific Cardiovascular diseases and genes to those on existing panels (30) with polymorphisms as available.


The EWG was informed about a publication developed to grade evidence that was developed during a meeting held in Venice. It was requested that the EWG look at this publication and possibly use the criteria outlined for the review.  The criteria are used to review the amount of evidence, replication and protection from bias.


Afternoon Breakout Sessions
Al Berg charged the members with using this time to move ahead the objectives that were outlined in the Briefing Book for two topics:


Can Tumor Gene Expression Profiling Improve Outcomes in Patients with Breast Cancer? Breakout Session Report and Discussion
The breakout session members did not make changes to the recommendation statement itself. Some changes in each of sections were suggested that map back to some parts of the recommendation statement but did not change overarching wording.  The final wording will be reviewed by the writing group.


DNA Testing Strategies Aimed at Reducing Morbidity and Mortality from Lynch Syndrome Breakout Session Report and Discussion
The breakout session members suggested a title change.  They also suggested minor changes to the language in the statement and recommendation.  The language in the recommendation statement and recommendation needs to be revised to match the language used in the EWG’s methods paper that has been submitted to Genetics in Medicine. 


Status Update on Factor V/ Prothrombin EPC Review
Linda Bradley provided a status update on this project, and there was discussion on key questions, overarching question and analytic framework by the EWG.


Can UGT1A1 Genotyping Reduce Morbidity and mortality in Patients with Metastatic Colorectal Cancer Treated with Irinotecan Recommendation Statement
Al Berg requested any comments from the EWG on “Can UGT1A1 Genotyping Reduce Morbidity and mortality in Patients with Metastatic Colorectal Cancer Treated with Irinotecan?” recommendation statement.  The EWG discussed summarization of analytic validity.


Methods Subcommittee Report
Steve Teutsch presented the report for the Methods subcommittee’s morning breakout session.  The main focus was on methodology for evaluating complex tests and a process for developing updates to existing EGAPP reviews and recommendations.  Additionally, the Methods Subcommittee discussed what would be next for their priorities.


Updating Process for EGAPP Reviews and Recommendations
The EWG discussed ideas for a formal 1-2 year process vs. an informal process which would identify items that would need to be updated based on information coming available on a particular topic. This would involve targeted searches on areas that could have influence on recommendations and could involved number of individuals, including ESG participation, asking external subject matter experts (e.g., EGAPP Stakeholders Group/Technical Expert Panel) if new information is available each year, literature reviews at CDC library, or other possibilities.


A consideration in the updating process is that key questions and analytic framework are not necessarily framed for the future but are based on our understanding of current genetics/genomics.  Also, there is a need to prospectively identify information that will need updating. Possibilities for an active updating process every 2 years, involving discussion of results with the Topics Subcommittee to determine whether results should be considered by the full EWG, were discussed.


Complex test evaluation       
An overview of the methods used to review Cardiovascular Disease  was provided to the Subcommittee by Glenn Palomaki.  The Methods Subcommittee will address this topic in the future on conference calls.
Future issues for Methods Subcommittee
The methods subcommittee will address issues on the following topics in the future:


Products Subcommittee Report
Celia Kaye presented the report for the Products subcommittee’s morning breakout session.  The main focus was discussion of the web site, the updated products list, and the next priorities for EWG products development.


The subcommittee conducted several conference calls and spent the majority of the time on reviewing information for the EWG web site.


The EWG Recommendation on CYP450 testing was selected for National Guidelines Clearinghouse.  The Products Subcommittee reviewed the proposed abstract and provided comments.


A monthly EGAPP update will be sent out by CDC Staff to the EWG starting in June and will include a listing of current projects, status, and a calendar of deadlines and events.


Public Comment
There were no public comments.


Topics Subcommittee Report
Joan Scott presented the report for the Topics Subcommittee morning breakout session.  Their main focus was the review of comments from the ESG on topics for consideration, recent topics that have emerged and what topics should be placed on the EWG web site.


The EGAPP Stakeholders Group provided comments on topics and listed some new ones for the EWG consideration of review.  The list was reviewed and the input considered.


The Topics Subcommittee discussed some modifications to the web site.  The Topics Subcommittee would like the following categories on the web site: Topics Completed, Under Review, and Topics Identified (currently listed as “Under Consideration”).


The Topics Subcommittee also discussed the process for streamlining topic summaries with a new format that blends short and long summaries.  The Subcommittee and EWG liked this idea and the proposed format.


The EWG discussed and brought to the table for consideration the formation of a technical review panel. The panel would be separate but connected to the ESG and serve several purposes including: reviewing summaries and suggested topics; providing ad hoc input as needed; helping the EWG by serving as informed outsiders and may contribute to writing and making presentations. The EWG will consider this at their upcoming retreat.


A discussion on approaching topics that were not considered in the past took place. Some topics that may present new challenges to our methods and are different categories could be helpful to test our methods. 


Wrap Up and Action Items
Lynch Syndrome
Glenn Palomaki and Ned Cologne led discussions on revisions for the draft recommendation statement. They will continue to work on minor changes in wording and will request further input from full group.


Breast Cancer
Al Berg presented revisions made in response to EWG discussions. Following discussion of the changes, a plan for moving forward was determined.


Web Development Resource
Plans for the web development project were discussed by EGAPP staff and Al Berg, and plans will be modified accordingly. 


Al Berg asked each of the subcommittee their ideas for inclusion in the retreat.


The possibility of combining the retreat with a conference or special presentations was also considered, as was the question of whether a meeting facilitator should be sought.


Closing Remarks
Al Berg expressed that the meeting was terrific but underscored complexity of the EGAPP Initiative.  He thanked everyone for their participation and the meeting was adjourned at 12:30pm


The next EGAPP Working Group Meeting is scheduled for Tuesday & Wednesday,
September 30 – October 1, 2008 in Seattle.


Historical Document
Page last updated: June 1, 2009
Page last reviewed: December 23, 2008
Content Source: OPHG Staff