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EGAPP Stakeholders Group (ESG) Meeting
Meeting Summary
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Background
Genetic testing stakeholders are critical partners in framing and broadly disseminating information developed through CDC’s Evaluation of Genomic Applications in Practice and Prevention (EGAPP)  initiative. In late 2007, the EGAPP Stakeholders Group (ESG) was established at the recommendation of the EGAPP Steering Committee to formally engage stakeholders in EGAPP processes and products. ESG members were selected based on their expertise, experience, and ability to represent one or more stakeholder groups, and for their strong connections at the national level to the broader stakeholder communities.
The first ESG meeting was held in Houston on January 7–8, 2008, at the Doubletree Houston Hotel. Attendees included 32 ESG members, a member of the EGAPP Working Group, CDC-based EGAPP staff, EGAPP expert consultants, and one visitor (see Appendix A at end of document for attendee list). |
Agenda
ESG Chair Dr. Debra Leonard convened the meeting, welcoming members and explaining the purpose of the ESG and its connection to the EGAPP initiative. Although its primary purpose was originally conceived as helping to disseminate informational messages from EGAPP to the various stakeholder groups, ESG also is important for providing stakeholder feedback to the EGAPP Working Group on the effectiveness of its processes, reports, and recommendations. The overarching goal of ESG is to make the EGAPP Working Group’s work more effective for those who use genetic tests.
ESG members introduced themselves, identifying their stakeholder groups and proposed contributions. Stakeholder groups included health care providers, public health professionals, health care payers and plans, policy makers, targeted consumer advocacy groups, researchers, in vitro diagnostic and biotechnology industries, educators and communicators, and information technology developers.
Dr. Linda Bradley (CDC, EGAPP Team Lead) provided a broad overview of the CDC EGAPP initiative, including its history and infrastructure, activities and products, and successes and challenges. The goal of the EGAPP initiative is to establish and test a systematic, evidence-based process for evaluating genetic tests in transition from research to practice. A short-term goal of EGAPP is to provide information to address questions about the quality and use of genetic tests posed by groups concerned with genetic testing oversight. Primary EGAPP products include commissioned evidence reports and Working Group recommendation statements .
Discussion
A question and answer period followed Dr. Bradley’s presentation. Much of the discussion centered on the challenge of finding good quality evidence for the analytic validity (AV), clinical validity (CV), and clinical utility (CU) of genetic tests in this early stage of the development of these technologies. It was noted that it is important to frame EGAPP recommendations as part of the evolution of information being assessed, and that the process and methods are a work in progress. Discussion also took place on the possibility of posting on the EGAPP Web site the review status for a particular topic and some types of preliminary information (e.g., topic horizon scans and early summary documents).
Types of Evidence Considered in an EGAPP Review
Analytic validity
How well does the test accurately and reliably measure the genotype or analyte of interest?
Clinical validity
How well does the test result correlate with the disorder or clinical outcome of interest?
Clinical utility
Are test results useful to improve patient outcomes?
Ethical, legal, and social implications
Are test results useful to the family and/or society, or do they raise ethical or legal concerns? |
Dr. Celia Kaye, the chair of the Products Subcommittee
of the EGAPP Working Group, discussed some of the challenges in evaluating genetic tests and provided a description of how the panel functions. Dr. Kaye briefly described the EGAPP analysis framework and methods,
and explained the diversity of issues that challenge and help develop and evolve Working Group methods. She
also underscored the importance of having a flexible process that could change to meet new challenges in the genetic testing arena.
Discussion
ESG members posed questions to Dr. Kaye and Dr. Bradley. Discussions focused on topic selection by the EGAPP Working Group, communication of recommendations, sustainability of the EGAPP process,
the translational research agenda, and the importance
of involving information technology experts at this early stage to consider data elements needed for future
medical records.
The ESG membership divided into small groups to discuss possible contributions to EGAPP. Starting points for discussion included possible approaches for communicating to key audiences and other stakeholders, and ways to interface with the EGAPP initiative. Group facilitators presented major discussion points to the entire assembly for further discussion and development. (See ESG Roles.)
The first published EGAPP Working Group recommendation statement, on CYP450 testing in adults with depression starting treatment with selective serotonin reuptake inhibitors (SSRIs), provided an opportunity for ESG members to focus their attention and comments on a specific EGAPP product. Celia Kaye explained the development of the recommendation to the group during a dinner session (sidebar) and a lively discussion followed.
Discussions
Major discussion points following the dinner presentation focused on internal and peer review of the recommendation statement and the role played by CDC in that process, the pros and cons of being proactive or reactive in topic choice, and the importance of clearly specifying the clinical scenario and explaining the term “insufficient evidence” to avoid overly broad interpretations of the recommendation.
Breakout discussions took place the next morning to focus on the content and presentation of the CYP450 recommendation statement, with group facilitators reporting on discussions points to the full assembly. Many detailed comments were offered on the content and formatting of the recommendation statement, but members also cited its importance as a breakthrough in sending the message that tests were being reviewed in a transparent process. The statement was also seen as providing good training material in pharmacogenomics for clinicians and public health group, and discussion material for providers and consumers. It also represents an important foundational document for payers making coverage decisions. |
EGAPP in Action: Developing the CYP450 Recommendation Statement
Dr. Celia Kaye of the EGAPP Working Group described how the panel developed their first recommendation statement on CYP450 testing.
Defining review parameters
The Working Group began their review by specifying the disorder (non-psychotic depression) and the genetic tests (CYP2D6, CYP2C19, CYP2C8, CYP2C9, and CYP1A1 polymorphisms). They decided that the clinical scenario would be testing adults with depression beginning treatment with selective serotonin reuptake inhibitors (SSRIs). The theory is that testing CYP450 polymorphisms before starting SSRI treatment may reduce delays in finding the optimal dose, and decrease the chance of adverse side effects.
Planning and commissioning the evidence review
For the next step in the review, the panel defined the analytic framework to guide the systematic search and analysis of available evidence. For the CYP450 review, the panel decided that their overarching question would be: Did testing in this clinical scenario lead to improved outcomes or was it useful for medical, personal, or public health decision making? Other key questions addressed analytic and clinical validity, and clinical utility.
CDC commissioned the CYP450 evidence review from the Agency for Healthcare Research and Quality Evidence-based Practice Center at Duke University. Three Working Group members participated on the Technical Expert Panel. After expert review, the EPC’s evidence report was published in January 2007.
Formulating the recommendation
The EGAPP Working Group based their recommendation on the evidence report, the quality and certainty of the evidence, and on potential clinical and social impacts of using the tests in practice. Dr. Kaye praised the flexibility built into the EGAPP review process, which allowed them, for example, to request an independent, supplementary review of articles submitted to the FDA to support clinical validity in CYP450 testing. The resulting recommendation statement developed by the Working Group was peer reviewed and published in the December 2007 issue of Genetics in Medicine along with a summary of the evidence from the EPC. |
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The final session of the ESG meeting was a discussion period that defined short-term action items and general suggestions for moving forward. Several suggestions were made for consideration by the EGAPP Working Group; these included ESG input on topics, and format and content suggestions for future recommendation statements. Other action items related to ESG membership communication and future functioning. The next ESG meeting was scheduled tentatively for summer 2008 in Seattle, Washington.
ESG chair Debra Leonard adjourned the meeting at noon on Tuesday, January 8th, 2008. She informed ESG members that work would begin immediately on action items, and that she would present a report on the ESG meeting to the full EGAPP Working Group at their meeting in February 2008 in Atlanta, Georgia.
Post-Meeting Addenda
2-5-08: ESG chair Debra Leonard presented a report on the ESG meeting to the EGAPP Working Group. Celia Kaye also discussed points made at the ESG meeting. Both conveyed the highly interactive nature of the ESG meeting, as well as the caliber and connections of the membership and their willingness to devote time to this effort. The Working Group expressed appreciation for the ESG and are taking all ESG suggestions into consideration.
3-21-08: the next ESG meeting is scheduled for July-30-31, 2008 in Seattle, Washington.
ESG members attending
Louise Acheson, Donna K. Arnett, Sylvia Mann Au, Matthew E. Bernard, Edgar R. Black, Amy Brower, Ann K. Cashion, Toby Citrin, Karen Clarke, Lynn G. Dressler, Karen L. Edwards, W. Andrew Faucett, Mark Gorman, Margaret Lynn Gulley, Mark Hoffman, Kathy Hudson, Julie A. Johnson, Debra G.B. Leonard, Joseph D. McInerney, Joyce Mitchell, Kasinathan (Murali) Muralidharan, Dennis F. Salisbury, Louisa A. Stark, Michael Stehney, Sharon F. Terry, Tracy L. Trotter, Martha. Turner, Mollie H. Ullman-Culleré, Roland Valdes, Jr., Richard W. Whitten, Marc S. Williams, and Kay Wissmann.
ESG members not attending
Robert S. Epstein; Norman Kahn, Jr.; and Alison Jean Whelan
EGAPP Working Group representative
Celia Kaye
CDC staff
Linda Bradley, Ralph Coates, Denise Casey, Stephanie Melillo
EGAPP Consultants
Elizabeth Balkite, Judith Johnson
Visitor
Katherine Johansen (American Medical Association) |
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Page last updated: September 16, 2008
Content Source: National Office of Public Health Genomics |
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