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EGAPP Working Group Meeting, February 4-5, 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 7:30 to 9:00 am on Tuesday, February 5, 2008.


Subcommittee Meetings
Topics, Methods and Products Subcommittee meetings were held from 9:00 – 10:00 am on Tuesday, February 5, 2008 to finalize deliberations and presentations for the full EWG.


Conflicts of Interest
Dr. Berg and Dr. Bradley reviewed the conflict of interest forms submitted by all the EWG members in January, 2008. One potential conflict of interest was discussed and not considered significant.


Welcome – Opening Remarks
Al Berg called the meeting to order at 8:30 am and welcomed the EWG members, staff, and consultants. During the opening statement, he provided a brief overview of the status of the EGAPP Initiative. 


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; Kathryn Phillips, PhD; Margaret Piper, PhD, MPH; Sue Richards, PhD, FACMG; Joan Scott, MS, CGC; Ora Strickland, PhD; and SteveTeutsch, MD, MPH. 

Core consultants in attendance included: Elizabeth A. Balkite, MS, CGC; Siobhan Dolan, MD, MPH; Debra Leonard, MD, PhD; Judith Johnson, PhD; and Glenn Palomaki, BS


Status Updates
Dave Dotson congratulated the EWG on the release of their first recommendation statement, Testing for Cytochrome P450 Polymorphisms (CYP450) in Adults with Non-Psychotic Depression Prior to Treatment with Selective Serotonin Reuptake Inhibitors (SSRIs) on Saturday, December 15, 2007. He presented EWG web site statistics for Monday, December 17th, the first working day after publication. The CDC, Genetics in Medicine and the EWG released press statements or announcements about the publication of the recommendation. The announcement was picked up by MD Consult for their Guideline Updates, and others (e.g. trade journals, web sites).


Current “pipeline” status was reviewed, including evidence reports, recommendations and manuscripts. The kick off for the Use of Genomic Profiling to Assess Risk for Cardiovascular Disease and Identify Individual Prevention Strategies evidence review is Wednesday, February 6.


The major objectives of the meeting were outlined:


National Guideline Clearinghouse requested the ability to create and post abstracted version of the EWG recommendation. The EWG chair and other members thought this was an excellent opportunity to reach a wide audience with the recommendations.


A successful first EGAPP Stakeholders Group meeting was held on January 7-8, 2008 in Houston, with a second meeting in planning for the summer - to be hosted by the University of Washington Center for Genomics and Public Health. 


The Office of Public Health Genomics held its 10 Year Anniversary Celebration in January, 2008. Steve Teutsch made a presentation on Genetic Testing: building the evidence base for population health benefits; and EWG members and staff presented a poster on status of EGAPP projects.


Lynch Syndrome Supplemental Report
Glenn Palomaki presented the status of the EGAPP Supplementary Evidence Review: DNA Testing Strategies Aimed at Reducing Morbidity and Mortality from Lynch Syndrome. Mr. Palomaki reviewed the methodology behind the supplemental report:


Specific wording for the summary recommendation was suggested by the EWG, followed by a unanimous vote to accept the wording of the summary recommendation as written.


Predicting complex diseases using genetic tests
Dr. Cecile Janssens from Erasmus University Medical Center in Rotterdam, the Netherlands, reprised for the EWG her recent ASHG presentation on predicting complex diseases using genetic tests. 


She discussed three approaches to predicting complex diseases using genetic factors:
single genes, multiple genes, and multiple genes with known risk factors. 


The main focus was: in the future, more genes are certain to be identified, but what will their predictive value be? The main conclusion was genomic profiling may have value in identifying high risk groups, but is likely to be less easy to apply to personalized medicine. This can still be positive in that although major advances of genomics may not be as useful as hoped for predicting disease, the research will increase understanding of pathogenesis and will likely result in new or more effective therapeutic strategies and new opportunities for prevention that could be assigned to individuals depending on risk.


The key points being understanding how people use genetic risk factors vs. traditional risk factors and what level of risk does it take (genetic or other) to motivate individuals enough to make lifestyle changes. 


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


Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes Breakout Session Report and Discussion
Al Berg presented the results of the breakout session. The final wording of the summary recommendation was presented for vote. It was agreed that, following an EWG comment period, a revised draft would be circulated among the EWG, prior to distribution for peer-review.


The final wording of the summary recommendation statement was approved by unanimous vote (12 in favor, 1 abstention).


Can UGT1A1 Genotyping Reduce Morbidity and Mortality in Patients with Metastatic Colorectal Cancer Treated with Irinotecan Breakout Session Report and Discussion
Jeff Botkin presented the results of the breakout session. Overall, the EWG thought the manuscript is a good synthesis of the evidence report. The summary recommendation needs some minor revisions to effectively communicate the ideas of the EWG.

The final wording of the summary recommendation statement was approved by unanimous vote (13 in favor).


CVD Discussion and Launch Planning
Glenn Palomaki reviewed the proposed timeline and key questions for the targeted review. A planning committee will meet on Wednesday, February 6 to outline the methodology, assign tasks, develop a timeline, and begin the selection of genes or markers that will be proposed to the Technical Expert panel (TEP) for review. 


The EWG discussed the types of expertise needed on the Technical Expert Panel, such as a cardiologist and geneticist specializing in heart disease. The specific outcomes to be included related to the broad category of cardiovascular disease were discussed. It was decided to focus on myocardial infarction (MI), stroke, and coronary artery disease (CAD). Experts will be consulted on definition of phenotypes and to determine if additional disorders should be considered. 


EGAPP Stakeholders Group (ESG) Report
Debra Leonard, EGAPP Stakeholders Group chair, presented a report on the meeting held on January 7-8, 2008 in Houston, TX. Dr. Leonard referred the EWG members to the ESG member listing (link to in their briefing book and their diverse interests and perspectives relative to EGAPP. She pointed out the strengths and diversity of the members, each of whom represents one or more of the following stakeholders groups:



At the ESG meeting, Linda Bradley provided an overview of the objectives and processes that underlie the EGAPP initiative and answered questions from the ESG. Dr. Celia Kaye, spoke to the ESG about EWG methods, activities, and successes/challenges. At that evening’s dinner, Dr. Kaye addressed them again to provide background on the recently released recommendation statement.

Dr. Leonard presented proposed ESG roles, along with feedback from the ESG on the CYP450 recommendation.

An ESG meeting report will be posted on the OPHG web site.


Topics Subcommittee Report

Joan Scott presented the report for the Topics Subcommittee (SC) breakout session. Their main focus was selection of topics for upcoming targeted reviews, planning for selecting topics for comprehensive reviews to begin in the fall, and next steps for posting topics on the web site.


The Topics Subcommittee and staff will modify the current system to end up with three topics lists: a comprehensive list of all eligible topics ever considered, the list of topics under review or finalized, and a list of the subset of all topics currently under active consideration for review. Another consideration was whether a topic placed on the web lists should stay there indefinitely.


Linda Bradley discussed with Al Berg and other EWG members the potential use of staff resources in further development of the topics web pages as more of a resource tool that provides useful information on test availability, cost, proposed intended use(s), performance claims, and whether consensus or evidence-based guidelines are available. Michael Douglas will take lead on this and draft pages will be presented at the May EWG meeting.


Topic Selection
The Topics subcommittee presented four potential candidate topics for targeted reviews based on consideration of EWG criteria:


The EWG voted on the topics and elected to conduct the next targeted review on the Type 2 Diabetes - TCF7L2 - Risk Prediction topic and followed by the Breast Cancer – CYP450 – Tamoxifen topic.


Public Comment
There were no public comments.


Methods Subcommittee Report
Steve Teutsch presented the report for the Methods SC breakout session. The main focus was on review of the methods outcomes manuscripts. Additionally, the Methods Subcommittee set up a list of their next priorities including:


The Methods manuscript has undergone substantial revisions. EWG members were asked to submit comments to Steve Teutsch. Comments will be incorporated into the manuscript and it is expected to go to CDC clearance by the end of February. The revised draft will go to the full EWG for final review prior to submission to the journal.


The Outcomes manuscript has undergone revisions, and after a final review is expected to go to CDC clearance soon. The revised draft will go to the full EWG for final review prior to submission to the journal.


Products Subcommittee report
Celia Kaye presented the report for the Products SC breakout session. The main focus was discussion of the web site, the updated products list, and potential interactions with the EGAPP Stakeholders Group. Additionally, the Products Subcommittee set up a list of their next priorities including:


The SC discussed the development of materials including 1) slide presentations on EGAPP, placed on the web site to inform visitors about EWG roles, process and products, and 2) a modular poster presentation that EWG members and others could use to promote the EGAPP initiative and products.


Potential format changes for future recommendations (e.g., summary table, visuals) will be considered based on input from the EGAPP Stakeholders Group. No specific changes in format were recommended for those currently in process. However, it was suggested that perhaps the entire summary recommendation could be boxed/bolded in future publications.


The members suggested moving the ‘Recommendations’ button to the top in the left navigation bar on the homepage. They also liked the idea of having the EGAPP Stakeholders Group provide input on web site navigation.


Wrap Up and Action Items
Al Berg solicited three person teams to participate in the draft/review of the recommendation statements in progress. 

The Lynch Syndrome recommendation team will consist of Al Berg, Jim Haddow, and Sue Richards.

The BrCa Gene Expression Profiling recommendation team will consist of Al Berg, Celia Kaye and Joan Scott.

The UGT1A1 recommendation team will consist of Al Berg, Jeff Botkin and Ned Calonge.


Closing Remarks
Al Berg thanked everyone for their participation and the meeting was adjourned.


The next EGAPP Working Group Meeting is scheduled for Monday & Tuesday,
May 19–20, 2008 in Atlanta


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