Working Group Meeting September 29-30, 2008

Talaris Conference Center, Seattle, WA

 

MEETING SUMMARY

View Agenda

 

Subcommittee Meetings
Topics, Methods and Products Subcommittee (SC) meetings were held from 8:30 – 9:30 am on Tuesday, September 29th to finalize deliberations and presentations for the full EWG.

 

Core consultants in attendance included:

Cecile Janssens, PhD; Judy Johnson, PhD; Monica McClain, PhD and Glenn Palomaki, BS.

 

Welcome and Opening Statement
Al Berg welcomed the new EGAPP Working Group (EWG) members: Doug Campos-Outcalt, MD, MPA; Roger Klein, MD, JD; Stephen Pauker MD, MACP, FACC, AMBH and David Veenstra, PharmD, PhD, in attendance.  The new and existing EWG members introduced themselves; along with staff and others in attendance.

 

EGAPP Working Group members present: 
Al Berg, MD, MPH, Chair; Jeff Botkin, PhD, MPH; 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 (via teleconference Tuesday); Stephen Pauker, MD, MACP, FACC, ABMH; Margaret Piper, PhD, MPH; Sue Richards, PhD, FACMG; Joan Scott, MS, CGC; Ora Strickland, PhD; SteveTeutsch, MD, MPH;  and David L. Veenstra, PharmD, PhD.

 

Welcome and Opening Statement
Al Berg outlined the meeting logistics and determined the agenda was complete and acceptable after considering the outcomes of the EWG retreat held the previous day.

 

Retreat Recap
Al Berg and the EWG found the retreat was useful and productive.  He was happy with the outcome and the ability to discuss the EWG’s work with no particular required outcome.

 

The retreat covered a core overview of: what is EGAPP about and where it fits, a formal initiative evaluation, internal and external issues (horizon scanning, evidence appraisal, initiative products). 

 

The EWG discussed external groups and their relationships to the EWG.  These included:

1. defining scope and mission of the EGAPP Stakeholders Group (ESG) and others,
2. developing working relationships with the US Preventative Services Task Force (USPSTF) and other international groups, and
3. developing dissemination relationships.

 

The EWG also discussed future operational plans for the EGAPP Initiative with a focus on transition to the next stages and the kind of new experience that is needed for this transition.

 

Status Updates and review of Briefing Book materials
Dave Dotson gave a brief overview of materials that were provided to the EWG members to supplement their briefing books.

 

He provided a status of manuscripts, reports and recommendations including the Lynch Syndrome supplemental report and recommendation, the Breast Cancer/Gene Expression Profiles Recommendation and the EWG Methods manuscript. 

 

He provided a brief status update for the Factor V review which is being conducted by an Agency for Healthcare Research and Quality (AHRQ) Evidence-base Practice Center and the type 2 diabetes review pending start by a virtual-EPC arrangement. 

 

An update on the EWG website (www.egappreviews.org) was provided including statistics and recent updates to web site including the “Understanding EGAPP Process” page.

 

Cardiovascular Disease Review Update 
Glenn Palomaki presented an update of the Cardiovascular Disease Review.  An overview of the current analytic framework and key questions was given, followed by the definitions used by the reviewers for cardiovascular disease.  The main focus of the review is the clinical validity of the existing panels of genes (30) and the associated polymorphisms. 

 

Cecile Janssens presented an outline of the proposed descriptive clinical utility section.  This section will cover health outcomes (e.g., intervention differences), impact on motivations and different interventions.

 

Institute of Medicine (IOM) Roundtable on Translating Genomic-based Research
Wylie Burke, chair, IOM, Roundtable on Translating Genomic-based Research presented a current status of the roundtable.  The presentation included the roundtable’s mission, process, a brief review of their meetings to date, and upcoming meetings. 

 

Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS)
Steve Teutsch, chair, SACGHS, presented a current status of the SACGHS.  The presentation included the SACGHS’s activities from 2004-2008.  The main points were the key recommendations from the SACGHS Oversight of Genetic Testing Report, the SACGHS Pharmacogenomics Report and upcoming report on gene patents and licensing practices, and possible future topics from priority setting discussions. 

 

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.

 

Breakout session:  Cardiovascular Disease Review Draft Report
Glenn Palomaki led a discussion on the Cardiovascular Disease draft report and recommendation statement.  The main focus of the breakout session was the draft language of the recommendation statement. 

 

Rationale, contextual issues, and benefits/harms were discussed and it was decided that these sections of the recommendation would be further developed by the writing team.

 

The EWG voted unanimously in favor of the wording of the recommendation, with a vote of 15:0.

 

It was decided that the writing group for this recommendation statement would consist of Celia Kaye, Sue Richards, Ned Cologne, and Joan Scott.

 

Breakout Session:  Methodology and Review Updating Report
Steve Teutsch led a discussion on methodology, specifically horizon scanning and publication of “topic summaries” on the web site.  The main focus of the breakout session was the summary format, content, and exactly what to post on the EWG web site.

 

Release of Recommendations
In preparation for the release of a number of recommendations, the EWG discussed the release of these recommendations, the associated press release(s) and materials (e.g., web site announcements) to the ESG, CDC press office and other members of the press.

 

EGAPP Stakeholders Group Report
Debra Leonard reported on the outcomes of the ESG meeting held on July 30-31, 2008.  She described each of the ESG subcommittees and their roles; and provided feedback to the EWG.

 

For a summary of the ESG Meeting, please see the meeting report on the ESG website (http://www.cdc.gov/genomics/gtesting/egapp_esg.htm). 

 

Topics Subcommittee Report & Topics Selection Discussion
Joan Scott presented the results the deliberations of the EWG Topics SC breakouts session from the previous day.  The main focus of the deliberations was on the interface with the ESG, the format for the web summaries, and updating/ranking the topics list.

 

The Topics SC tested a process for input from the ESG Topics SC.  The EWG received and reviewed 3 topic proposals, which included rationale for or against conducting a review on the topic.  \

 

The topic summaries for the web were discussed and the EWG decided that portions of the information on the current summaries are not appropriate for the web site.  They requested the Topics SC work with EGAPP staff to develop several versions of formats for the web and convert a couple of examples for presentation at the next EWG meeting. 

 

The Topics SC discussed expanding the scope of topics.  This expansion of scope would allow for some new topics for review to add prenatal and newborn screening.  The EWG voted, all in favor, to expand the scope to include prenatal testing, but determined newborn screening would not be a good use of resources.

 

Diabetes Evidence Review Planning 
Monica McClain presented a report on the status of the diabetes evidence review.  The development of the review is still in progress in regard to the key questions and analytic framework.  The review has potential of having 3 different clinical scenarios.  The key decisions that are needed are: what genes will be included in the review and which clinical scenarios will be reviewed?

 

The EWG elected to conduct the evidence review on three clinical scenarios.  The general population risk assessment for type 2 diabetes using a genomic profile is the main clinical scenario to be evaluated.  Two additional clinical scenarios will be evaluated which include:  TCF7L2 testing in high risk individuals (overweight, IFG/IGT) to assess short-term (3-4 years) risk of developing type 2 diabetes; and TCF7L2 testing in individuals with type 2 diabetes to predict response to sulfonylureas.

 

Methods Subcommittee Report 
Steve Teutsch presented the results the deliberations of the EWG Methods SC breakouts session from the previous day.  The main focus of the deliberations was perspectives, economics, decision support, modeling, and review stages.

 

The issues previously under discussion have been complex test evaluation and the updating process for reviews/recommendations.  They have formulated a definition of complex test.  Further discussion will continue during the next few months.

 

The Methods SC will be discussing the types of reviews that might be undertaken including: staged, adaptive and quick review process. 

 

The Staged review process may include questions or steps such as the following:

• Can we identify areas in staged review process where it is appropriate to cut away from full review and go the targeted/brief review route?
• Should we stop at the point we know evidence will be insufficient?
• Which link is most likely to break chain of evidence?
• Do we need association data no matter what?
• Need to formalize process and make it flexible
• Modifying review as we go

The use of decision modeling could help the reviewers when making decisions.  Modeling alone shouldn’t lead to a positive recommendation, but could tell us whether to continue with the study or not; could help to bound benefits & risks; could inform us about the “downside” and identify critical questions; and different levels of model complexity could be used.  The Methods SC will consider how this fits into the EGAPP scope.

 

Products Subcommittee Report
Celia Kaye presented the results the deliberations of the EWG Methods SC breakouts session from the previous day.  The main focus of the deliberations a review of the recommendations, review and web site processes, followed by the next steps for the Products SC.

 

The next task for the Products SC will be to develop translational materials with theCommunications Subcommittee of the ESG.  They will be discussing a process on how to develop translational materials. 

Public Comment
There were no public comments.

Wrap-up
The meeting was one of renewal and refocusing of the subcommittees during the transition to the next phase of the EGAPP Initiative. 

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

The next EGAPP Working Group Meeting is scheduled for Tuesday & Wednesday, 
February 2-3, 2009 in Atlanta.