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Working Group: Topics




Scope of Topics

EGAPP is an initiative with a public health focus, the inital developers made an early decision not to try to address the broad range of genetic tests in the inital first phase, but rather to focus on tests recognized as having wider population application (e.g., higher disorder prevalence, higher frequency of test use), and those with the potential to impact clinical and public health practice.  Tests could include those used in a specific clinical scenario to guide intervention (e.g., diagnostic workup, treatment, or prevention) or tests used for risk prediction or population screening.


It is intended that the methods and approaches developed during the intial pilot phase of EGAPP will have application to other types of testing in the future.


In addition to limiting the scope of the inital pilot project, this early decision also recognized that, in some cases, other translation and evaluation processes are underway.  For these reasons, the EGAPP initiative is not currently focusing on certain other large categories of tests, including newborn screening (addressed by the Health Resources & Services Administration and Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children), external link testing for rare single gene disorders (addressed by the NIH Office of Rare Diseases Collaboration, Education and Test Translation (CETT) Program), external link and reproductive genetic testing.


Identifying Topics

Potential topics for evidence review in the EGAPP review process are identified through ongoing horizon scanning by EGAPP project staff (e.g., internet and publications searching) and through suggestions from stakeholders, the EGAPP Steering Committee, and EGAPP Working Group members.


Individuals, professional organizations, and members of the scientific and general public are encouraged to submit topics for future consideration using the Contact Us page.


Review, Prioritization, and Selection of Topics

Under the direction of the EGAPP Working Group, EGAPP project staff maintains a listing of topics under consideration.  The EGAPP Working Group considers tests based on defining the disorder/effect to be tested for, the specific test to be used, and the clinical scenario in which the test will be used (e.g., diagnosis or screening, population to be tested). 


All topics submitted are first reviewed to determine if they fall within the current stated project scope.  Topics are then considered for review by the EGAPP Working Group based on specific criteria and other considerations related to the research objectives of the pilot project, as shown in the table and diagram.



arrow iconm Criteria and Considerations for Prioritization and Selection of Evidence Review Topics


Criteria Related to Health Burden
  • What is the potential public health impact based on the prevalence/incidence of the disorder, the prevalence of gene variants, or the number of individuals likely to be tested?
  • What is the severity of the disease?
  • How strong is the reported relationship between a test result and a disease/drug response?
  • Is there an effective intervention for those with a positive test or their family members?
  • Who will use the information in clinical practice (e.g., healthcare providers, payers) and how relevant might this review be to their decision-making?


Criteria Related to Practice Issues
  • What is the availability of the test in clinical practice?
  • Is an inappropriate test use possible or likely?
  • What is the potential impact of an evidence review or recommendations on clinical practice?  On consumers?


Other Considerations
  • How does the test add to the portfolio of EGAPP evidence based reviews?  As a pilot project, EGAPP aims to develop a portfolio of evidence reviews that adequately tests the process and methodologies.
  • Will it be possible to make a recommendation, given the body of data available?  EGAPP is attempting to balance selection of somewhat established tests versus emerging tests for which insufficient evidence or unpublished data are more likely.
  • Are there other practical considerations? For example, avoiding duplication of evidence reviews already underway by other groups.
  • How does this test contribute to diversity in reviews?  In what category is this test?   As a pilot project, EGAPP aims to consider different categories of tests (e.g., pharmacogenomics or cancer), mutation types (e.g., inherited or somatic) or test types (e.g., predictive or diagnostic).



Links to organizations are provided solely as a service to our users. These links do not constitute an endorsement of these organizations or their programs by EGAPP, and none should be inferred. EGAPP is not responsible for the content of the individual organization Web pages found at these links.


Page last updated: September 24, 2013
Page last reviewed:September 24, 2013
Content Source: OPHG Staff