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Genetic Testing

The success of the Human Genome Project has led to increasingly rapid translation of genomic information into clinical applications.  Genetic tests for more than 1,200 diseases have been developed, with more than 1,000 currently available for clinical testing.  Most are used for diagnosis of rare genetic disorders, but a growing number have population-based applications, including carrier identification, predictive testing for inherited risk of common diseases, and pharmacogenetic testing for variation in drug response.  These tests and other anticipated applications of genomic technologies for screening and prevention have the potential for broad public health impact.

In recent years, a number of issues have been raised about the current status of genetic testing implementation and oversight, including the need to develop evidence to establish efficacy and cost-effectiveness before tests are commercialized.1-12  In addition, as new genomic technologies with potential applications in clinical practice continue to become available, there is an increasingly urgent need for timely and reliable information that will allow health care providers and payers, consumers, and policy makers to distinguish tests that are safe and useful.  Recommendations on the development and implementation of safe and effective genetic tests have been produced by expert panels, professional organizations, and clinical experts, including the National Institutes of Health - Department of Energy Task Force on Genetic Testing, the former Secretary's Advisory Committee on Genetic Testing, and the Secretary’s Advisory Committee on Genetics, Health and Society. However, a coordinated approach for effectively translating genomic applications into clinical practice and health policy is still needed.

CDC-sponsored programs to evaluate genetic tests

Evaluation of Genomic Applications in Practice and Prevention (EGAPP): Implementation and Evaluation of a Model Approach
EGAPP is a pilot project initiated by the CDC National Office of Public Health Genomics in the fall of 2004.  The project’s goal is to establish and evaluate a systematic, evidence-based process for assessing genetic tests and other applications of genomic technology in transition from research to clinical and public health practice. 

More information on EGAPP can be found on the links below.

arrow About EGAPP
arrow EGAPP Working Group
arrow EGAPP Steering Committee
arrow EGAPP Stakeholders Group
arrow EGAPP Working Group Independent website This reference links to a non-governmental website


ACCE Model Project (2000-2004)
EGAPP methodology evolved from ACCE, which was a model process for evaluating data on emerging genetic tests.  ACCE takes its name from the four components of evaluation—analytic validity, clinical validity, clinical utility and associated ethical, legal and social implications.

More information on ACCE can be found on the links below.

arrow ACCE Project
arrow ACCE Reports
arrow ACCE Short Course

Resources & Related Links

arrow Genetic Testing Weekly Update
arrow Additional Resources
arrow Search CDC database for infomation on Genetic Testing

Page last updated: December 17, 2007
Content Source: National Office of Public Health Genomics