Genomic Testing

Genetic tests have been developed for thousands of diseases. Most tests look at single genes and are used to diagnose rare genetic disorders, such as Fragile X Syndrome and Duchenne Muscular Dystrophy. In addition, some genetic tests look at rare inherited mutations of otherwise protective genes, such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers. However, a growing number of tests are being developed to look at multiple genes that may increase or decrease a person’s risk of common diseases, such as cancer or diabetes. Such tests and other applications of genomic technologies have the potential to help prevent common disease and improve the health of individuals and populations. For example, predictive gene tests may be used to help determine the risk of developing common diseases, and pharmacogenetic tests may be used to help identify genetic variations that can influence a person’s response to medicines. There is much we still need to learn about how effective these new tests are, and the best way to use them to improve health. Learn more about genetic testing.

Limited Scientific Information for Most Genetic Tests

Despite the many scientific advances in genetics, researchers have only identified a small fraction of the genetic component of most diseases. Therefore, genetic tests for many diseases are developed on the basis of limited scientific information and may not yet provide valid or useful results to individuals who are tested. However, many genetic tests are being marketed prematurely to the public through the Internet, TV, and other media. This may lead to the misuse of these tests and the potential for physical or psychological harms to the public. At the same time, valid and useful tests, such as those for hereditary breast and ovarian cancer or for Lynch syndrome, a form of hereditary colorectal cancer, are not widely used, in part because of limited research on how to get useful tests implemented into practice across U.S. communities. Individuals can learn more about specific genetic tests by visiting the Web sites listed below or by talking with their doctor.

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The Need for Reliable Information on Genetic Testing

In 2008, the former Secretary’s Advisory Committee on Genetics, Health and Society of the U.S. Department of Health and Human Services released a report identifying gaps in the regulation, oversight, and usefulness of genetic testing. They expressed the need for timely, reliable information that health care providers, payers, public health practitioners, policy makers, and consumers could use to make more informed decisions about the appropriate use of these tests in clinical and public health practice.

To begin addressing this need for reliable information, CDC’s Office of Public Health Genomics (OPHG) established the Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Initiative project to systematically evaluate genetic tests and other applications of genomic technology that are in transition from research to clinical and public health practice. Since 2005, the independent EGAPP Working Group has released nine recommendations on the validity and utility of specific genetic tests.

The U.S. Preventive Services Task Force (USPSTF) has also released recommendations on specific genetic tests used in selected clinical scenarios involving breast cancer , colorectal cancer, and hemochromatosis .

In addition the Genetic Test Registry was developed by NCBI. The article “The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency” in the journal Nucleic Acids Research describes in detail this database.

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Evaluation of Genomic Applications in Practice and Prevention (EGAPP™)

In 2004, the Centers for Disease Control and Prevention launched the EGAPP initiative to establish and test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology that are in transition from research to clinical and public health practice.

A key EGAPP goal is to provide objective, timely, and credible information that is clearly linked to available scientific evidence. This information will allow health care providers and payers, consumers, policymakers, and others to distinguish genetic tests that are safe and useful.

How EGAPP Works

EGAPP Steering Committee
The EGAPP Steering Committee is a federal, interagency group that oversees the recruitment and selection of the independent EGAPP Working Group members.
EGAPP Working Group
The EGAPP Working Group is an independent group that develops recommendations and evidence-based reviews on genetic tests.