Frequently Asked Questions
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The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative was established in October 2004 by the Office of Public Health Genomics (OPHG) at the Centers for Disease Control and Prevention (CDC). The goal of EGAPP is to develop a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology that are rapidly moving from research to use in clinical practice. A key objective of this process is to provide objective, timely, and credible information that is clearly linked to the scientific evidence on specific applications of genetic and genomic tests.
The primary focus of EGAPP activities is an independent, nonfederal expert panel, the EGAPP Working Group. Other components of the EGAPP initiative include a federal interagency, the CDC staff and consultants, and an EGAPP initiative evaluation team.
Links for more information
The EGAPP initiative was launched to respond to the need for a coordinated approach for effective translation of new applications of genomics into clinical practice and health policy. Reliable and objective information on emerging genomic applications will allow health care providers and payers, consumers, and policy makers to distinguish tests that are safe and effective, and will provide guidance on their appropriate use.
Although most genetic tests currently available in clinical practice are used to diagnose rare single gene disorders, a growing number have the potential for broad public health impact. Examples include tests that predict risk of common diseases, provide information on prognosis or therapeutic options, or help physicians determine the right drug and dosage for individual patients.
- Support the independent EGAPP Working Group
- Continue to develop the capacity for evidence review and knowledge synthesis to support more timely and efficient translation of genomic applications into practice
- Disseminate EGAPP Working Group products and secondary informational messages for use by consumers and providers
- Publish EGAPP review methods and experience
- Obtain additional stakeholder feedback on EGAPP process and products through web-based surveys by an EGAPP evaluation team
No. CDC has no regulatory authority with regard to genetic testing. EGAPP is a non-regulatory process for knowledge synthesis and critical review, and dissemination of information to stakeholders.
EGAPP Working Group
The EGAPP Working Group is an independent panel established in April 2005 to lead the development of a process for evidence-based assessment that is specifically focused on genetic tests and other applications of genomic technology. The multidisciplinary panel was orginally composed of 13 experts from areas such as evidence-based review, clinical practice, public health, laboratory practice, genomics, epidemiology, economics, ethics, policy, and health technology assessment. Key objectives of the panel are to:
- develop a transparent, publicly accountable evaluation process;
- minimize conflicts of interest in the evaluation process;
- optimize existing methods to address the evidence review challenges presented by complex and rapidly emerging genomic applications; and
- provide clear linkage between the scientific evidence developed in commissioned evidence reports and the Working Group recommendation statement subsequently developed, peer reviewed, and published.
In 2005, CDC solicited nominations for this independent panel from a wide range of organizations and individuals. Thirteen Working Group members were selected from the pool of nominees by the Health and Human Services interagency EGAPP Steering Committee. In 2008, the EGAPP Working Group will expand from 13 to 16 members, and begin a planned regular rotation of members on the panel. As before, the nomination and selection process will include a broad solicitation of nominations, and review and selection by the EGAPP Steering Committee.
Two-day Working Group meetings are held three times per year, and the work of subcommittees continues between meetings through teleconferencing. Based on the agenda and specific tests under consideration or review, members are asked to declare any potential conflicts of interest prior to each meeting.
Specific roles of the Working Group include:
- establishment/adaptation of methods and processes for review of evidence on genetic/genomic tests;
- identification, prioritization, and selection of topics for evidence review;
- participation on technical expert panels for commissioned evidence reports;
- development of recommendations based on the evidence and relevant contextual issues; and
- publication of methods and experience.
Products resulting from the Working Group’s efforts include
- Evidence reports
- Recommendation statements
- Methods for optimizing systematic evidence review of genomic tests
- Criteria for selecting topics (tests) and a prioritized list of topics (tests)
- Recommendations for a sustained process
EGAPP Working Group
Increasingly, the health care provider and payer communities consider evidence review to be the preferred method for evaluating a new test, technology, or intervention. Also referred to as “evidence-based” or “systematic,” such reviews involve:
- systematic identification and objective review of relevant published literature on a specifically defined topic in order to answer a series of pre-determined key questions;
- rigorous review of the quality of the evidence; and
- analysis and synthesis of the evidence.
Most commonly, “evidence” is defined as peer-reviewed publications of original data or systematic review or meta-analysis of such studies. Editorials and expert opinion pieces are not included. In some cases, reviews allow for inclusion of some unpublished literature, and for consideration on a case-by-case basis of other sources of information.
The product of an evidence review is an evidence report that provides detailed documentation on the test, the rationale and clinical scenario for testing, key questions addressed in the review, methods used for review and analysis, and the conclusions and identified gaps in knowledge.
The definition of a “genetic test” is variable, and often the subject of debate. Due to the rapid evolution of genomic technology, the EGAPP Working Group has not adopted a specific definition of this term, but rather has taken a broad view that includes analysis of genes for heritable or acquired variations, or of gene products (e.g., proteins), when the tests’ intended uses relate to disease or health. This approach could also include as “tests” questions about personal or family health history that are used to assess risk.
Since it was clearly not feasible to immediately address the “universe” of genetic and genomic testing, the EGAPP Working Group has focused on tests recognized as having wider potential population application, greater potential to impact clinical practice and the public’s health, and those for which there is demand for information. Tests currently of highest priority for EGAPP review include those used in specific clinical scenarios:
- to guide intervention in symptomatic individuals (e.g., diagnosis, prognosis, treatment) or asymptomatic individuals (e.g., disease screening);
- to identify individuals at risk for disorders or conditions (e.g., predictive or susceptibility testing);
- to identify carriers of disorders; and
- to manage drug selection or dosage (e.g., pharmacogenomic tests).
Categories of tests less likely to be considered by EGAPP at this time include diagnostic tests for rare single gene disorders, and prenatal or newborn screening tests.
During the review and selection process, topics (tests) are carefully defined based on the medical disorder, the specific test(s) to be used, and the specific clinical scenario in which the test will be used.
See the EGAPP Working Group’s web site for more information on test selection
Yes. Suggestions and comments can be made via the “Contact us” section on the EGAPP Working Group web site. EGAPP encourages submission of suggested topics for review, preferably accompanied by a brief rationale explaining why the test should be considered as a high priority.
The Working Group bases their recommendations on the quality and certainty of the available data on the analytic validity, clinical validity, and clinical utility of tests used in specific clinical scenarios. The main focus of review is clinical outcomes: Do interventions or actions based on genetic testing results improve health outcomes, compared with not testing?
The panel also considers specific family or societal outcomes of genetic testing, such as the impact of a genetic test on decision making by healthcare providers and patients, psychosocial benefits and harms to the patient and family, and potential public health impact.Other issues considered may include the availability or access to testing, adequacy of consumer and healthcare provider knowledge, and resources and infrastructure for delivering tests. Throughout the review process, the Working Group identifies gaps in knowledge and priority areas for research that can provide the additional evidence needed to better establish the validity and utility of tests.
An EGAPP-commissioned evidence report is a detailed, systematic, objective assessment of the available scientific and clinical evidence on a specific topic. Evidence reports for EGAPP are conducted by contracted review groups or Agency for Healthcare Research and Quality Evidence-based Practice Centers.The evidence review is an independent process that is not conducted by the EGAPP Working Group. The Working Group’s involvement in the review is generally limited to development of key questions to be addressed, participation by 2-3 members on a Technical Expert Panel convened by the reviewers, reviewer presentations to the Working Group at meetings, and Working Group review of the draft evidence report. Evidence reports represent the first step in the EGAPP evaluation process.
An EGAPP Working Group recommendation statement is based on the commissioned evidence report, other review of evidence as needed, the quality of available data, and the potential clinical and social impact of using the test in practice (i.e., contextual issues), with input on the draft document from a range of outside peer reviewers. The statement is intended to provide guidance to healthcare providers, policymakers, payers and healthcare purchasers, and consumers on the use of specific genetic tests.
EGAPP Interactions with Genetic Testing Stakeholders
- EGAPP encourages individuals or representatives of stakeholder groups to comment on its processes or products via the EGAPP Working Group web site.
- EGAPP encourages submission of suggestions for specific applications of genetic tests that should have priority for review (and why).
- The EGAPP initiative and Working Group recruit representatives of stakeholder groups to serve as expert consultants or reviewers for evidence reports or as peer reviewers of recommendation statements.
- Individuals ;and organizations& have opportunities to respond to periodic solicitations for nominees to participate as members of the EGAPP Working Group.
- The EGAPP initiative is documenting and evaluating Working Group processes and products; evaluation will include web-based surveys in a range of stakeholder groups.