Working Group Meeting August 27-28, 2007

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

MEETING SUMMARY

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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 8:30 am on Tuesday, August 28, 2007.

EWG Subcommittee Meetings

Topics, Methods and Products Subcommittee meetings were held from 8:30 – 9:30 am on Tuesday, august 28, 2007 to finalize deliberations and presentations for the full EWG.

Conflicts of Interest – No conflicts of interest were identified for this meeting.

Welcome – Opening Remarks

The EWG meeting was convened by Dr. Al Berg, Chair.  Dr. Berg welcomed the EWG members, staff and consultants, and visitors.  Members of the EWG in attendance were: Al Berg, MD, MPH, Chair; Jeff Botkin, PhD, MPH; Ned Calonge, MD, MPH; James Haddow, MD; Celia Kaye, MD, PhD; Kathryn Phillips, PhD (via teleconference August 27 only); Margaret Piper, PhD, MPH; Sue Richards, PhD, FACMG; Joan Scott, MS, CGC; Ora Strickland, PhD; and Steve Teutsch, MD, MPH.

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

Report Update – Can UGT1A1 Genotyping Reduce Morbidity and Mortality in Patients with Metastatic Colorectal Cancer Treated with Irinotecan?

Glenn Palomaki presented the status of the evidence report and the modeling, the summary manuscript, and the draft recommendation statement.  The substantive changes made in the full evidence report in response to comments from peer reviewers were discussed.  Based on the finalization of the report, work will continue on the draft manuscript and the draft recommendation statement.

Report Update – Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

At the previous EWG meeting, Glenn Palomaki and EWG Technical Expert Panel members conducted a discussion on the AHRQ Evidence-based Practice Center (EPC) report commissioned by EGAPP and finalized by the Tufts EPC in May, 2007.  This report, Hereditary Nonpolyposis Colorectal Cancer:  Diagnostic Strategies and Their Implications is posted on the AHRQ website.

The EWG has requested a supplemental evidence report to aid in their efforts to develop a clinical recommendation.  The intent of the supplemental report is to update the evidence based on new studies (particularly stratification of results based on improvements in testing technologies), and to address in more detail the clinical and psychosocial implications for family members of identified probands.

Presentation of the Evidence-based Practice Center Report:  Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes and WG discussion of report.

Representatives of the John Hopkins University Evidence-based Practice Center provided a brief report on the findings from the review and answered questions from the EWG.

Breakout Sessions

Afternoon breakout sessions were held to facilitate the progress on two topics.  Al Berg charged the EWG member groups with helping to move ahead the objectives that were outlined during the presentations for each topic.

Can UGT1A1 Genotyping Reduce Morbidity and Mortality in Patients with Metastatic Colorectal Cancer Treated with Irinotecan? 

Led by Jeff Botkin, the EWG members discussed the progress of this evidence report, summary manuscript and draft recommendation statement.  Overall, they concluded that the manuscript is a good synthesis of the full evidence report, but needs additional work on diagrams and issues around characteristics of evidence.  Most discussion focused on further development of the recommendation statement.

Hereditary Nonpolyposis Colorectal Cancer:  Accuracy of diagnostic strategies and implications to patients with colorectal cancer and their families 

Breakout Session Report and Discussion

The EWG discussed the scope and objectives of the supplementary report, and reviewed a draft of the evidence tables.  The overall sense is that it will meet their needs and allow the EWG to develop a recommendation.  The EWG voted on the basic recommendation language.  Dr. Berg offered to work on crafting the first draft of the recommendation statement.

Staff and Overview Updates

Linda Bradley provided brief updates on staff and products in the pipeline.

Topics Subcommittee Report 

Joan Scott presented the report from the Topics Subcommittee, covering the efforts to develop a more systematic topics horizon scanning process and work on the review of the next topics to be prioritized for review.

• The proposed horizon scanning process aims to ensure that new genetic/genomic tests are being appropriately identified.  The process includes active scanning of web-based materials (e.g., Lexis-Nexis, Google News) and published, peer-reviewed literature, as well as solicitation of suggestions from stakeholders through the web site. To date, Google News has been the most productive in identifying potential tests. Other points under consideration are how often to run scans, and how often to update summary information on tests.
• The EWG may want to develop a “quick response” format for emergent events related to genetic testing.  Currently, the fastest EGAPP or Rapid ACCE review would take weeks.

Stakeholders Report

CDC has invited eight prominent individuals with varying perspectives on genetic testing to develop a formal stakeholders group for EGAPP.  This Steering Committee is chaired by Debra Leonard, and also includes Toby Citrin, Karen Edwards, Kathy Hudson, Norm Kahn, Joe McInerney, and Sharon Terry.  Marc Williams has been working to define the diversity of stakeholder categories that should ultimately be sought for the EGAPP Stakeholder Group.  A recruitment process for members is in development.  NOTE:  Click here for information on the selection process and outcome.

Methods Subcommittee Report

Drs. Calonge and Teutsch presented the report from the Methods Subcommittee, addressing development of the analytic framework and key questions for the thrombophilia report to be conducted by an AHRQ Evidence-based Practice Center, and the two methods manuscripts in preparation.

There was discussion on which tests to include in the thrombophilia topic.  Current clinical practice most frequently involves combination testing for the Factor V Leiden and prothrombin 20210 mutations; this should be the minimum scope of the review.

Dr. Bradley provided an update on the methods manuscript.  The next draft will be reviewed on the next Methods Subcommittee conference call.

Steve Teutsch briefed the EWG on developing a process for updating EGAPP reports and EWG recommendations; these issues will also be discussed further on future conference calls.

Products Subcommittee Report

Celia Kaye presented the report from the Products Subcommittee, which focused on:

1. the written protocol for peer review of EGAPP reports and EWG recommendation statements
2. the written protocol for approval of materials to be posted on the EGAPP web site.
3. Translational materials and the planned EGAPP announcement for the publication of the CYP450 recommendation statement were also discussed.

Translational materials
CDC’s Office of Public Health Genomics will also be developing translational messages for public health in collaboration with other divisions and programs, such as the Division of Cancer Prevention and Control or the Comprehensive Cancer Program.  CDC staff will ensure that the knowledge and input of the EWG is considered when developing translational materials.

The EGAPP Stakeholders Group is currently being constituted for the purpose of translation with wide representation. The EWG needs to take advantage of the opportunity to work with EGAPP Stakeholders Group members to develop translational materials.

CYP450 Recommendation Statement Announcement 
This is a simple statement that informs a wide range of stakeholders that the first EWG recommendation statement has been published, and provides a link to the document and the EGAPP web site. It was decided the announcement should go out on the day the article is released so people can have immediate access. This announcement will go to professional organizations and a broad group of stakeholders.

Spokespersons
The EWG will need to select spokesperson(s) for the CYP450 recommendation.  It was suggested that the chair of the writing group and/or chair of EWG be the spokesperson(s).  This will most effectively be done on a case by case basis for each statement.

The EWG Spokesperson(s) will be responsible for addressing questions related to the content of the recommendation statement and the EWG’s process.  CDC spokeperson(s) will be available to address the vision and goals for CDC’s EGAPP initiative.

Wrap-up 

Good progress has been made on the UGT1A1 report/manuscript and recommendation, as well as the Hereditary Nonpolyposis Colorectal Cancer supplemental report.

Dr. Berg thought the addition of the breakout sessions to the EWG meeting worked well and encouraged the use of these sessions in future EGAPP Meetings.

Closing Remarks

Al Berg thanked everyone for their participation and the meeting was adjourned at 1:00pm