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Genetic Testing: Understanding Your Genes and What They Mean For Your Health

Currently, genetic tests are available for thousands of diseases.  Most often, individuals receive genetic testing services from their healthcare providers.  Although most clinical genetic tests are offered through traditional means (e.g., healthcare providers), some genetic tests, including genetic ancestry tests, are now available to the consumer via the Internet.

Genetic tests are relatively new to the clinic. Genetic tests are subject to regulation by several agencies within the federal government.  The Food and Drug Administration has oversight over laboratory developed tests and test kits. Historically FDA has not regulated laboratory developed tests.  Most laboratories offering genetic testing comply with regulations under the Clinical Laboratory Improvement Amendments (CLIA) of 1988.

The regulatory system must encourage safe, accurate, and accessible genetic tests. At the same time, regulators must avoid placing an onerous burden on those who create, manufacture, and provide genetic testing services.  In the case of the regulation of genetic tests, policymakers must strike an appropriate balance that ensures the public's safety, and enables innovation that will alleviate suffering.

As the number of genetic tests available has surged, two distinct public policy issues have arisen: the quality of genetic tests and the availability of genetic testing services directly to consumers.

Key Terms:

Clinical Validity: the ability of a test to detect or predict the associated disorder (phenotype)

Clinical Utility: the elements that need to be considered when evaluating the risks an benefits associated with a testintroduction into routine practice.

Laboratory developed test: a test developed in-house by laboratories and marketed as a clinical laboratory service.

Analyte specific reagent: the active ingredients in a laboratory developed test.

Test kit: a genetic test assembled and sold as a kit.

Policy Issues Relating to Genetic Testing

What is the current regulatory environment for genetic tests?

Today, genetic tests are subject to regulation through four statutory mechanisms:

1. The Clinical Laboratory Improvement Amendments (CLIA) of 1988 requires that laboratories meet certain standards related to personnel qualifications, quality control procedures, and proficiency testing programs to receive CLIA certification.  However, the CLIA does not require evaluation of the clinical validity or clinical utility of any particular test.  No special requirements exist for laboratories performing DNA-based and other types of genetic tests.  No proficiency testing programs in genetics or cytogenetics are required under CLIA.

2. The Food, Drug, and Cosmetic Act regulates diagnostic test kits.  During premarket review, the Food and Drug Administration (FDA) assesses a device's accuracy, clinical sensitivity, and specificity. However, not all genetic tests are packaged as test kits, some tests are performed by laboratories in which the individual components (reagents) of a test are put together in the lab. These laboratory developed tests (LDT), unlike the test kits, are generally not regulated by the FDA, although the component are regulated.  The FDA imposes basic requirements such as quality control and labeling on the components, but at this time, does not regulate how they are put together to make a test.  This may change, since FDA does claim jurisdiction over LDTs.

3. During the investigational phases of test development, federally-funded clinical research is subject to federal regulations regarding the protection of human subjects. These regulations can come from a variety of agencies, including the Office of Human Research Protection (OHRP) and the FDA.

4. The promotion and advertising of genetic tests is regulated by the Federal Trade Commission (FTC).

What are the benefits of direct-to-consumer marketing of genetic tests?

Direct-to-consumer access to testing may encourage consumers to take a proactive role in their healthcare.  It is possible that there will a more speedy integration of genetics into clinical care if tests are available to consumers, similar to home pregnancy and HIV tests.  In some cases, there might be greater access to such tests.

Former President George W. Bush signed the Genetic Information Nondiscrimination Act (GINA) into law on May 21, 2008. The law provides individuals with federal protections against genetic discrimination in employment and health insurance.

What risks are associated with the promotion of genetic tests directly to consumers?

DTC advertising of and access to genetic testing directly to customers may expose consumers to unnecesary or unsafe testing.

Additionally, genetic test results are complex and difficult to understand.  Consumers may be confused when tests are not offered, administered, and analyzed in a traditional medical environment with the appropriate counseling services.

A third risk is that genetic test results can have implications that touch whole families and communities.  As such, these results should be delivered in a manner which respects the wishes of the family and the community.

How is the promotion of genetic tests and services restricted by the law?

Today, the promotion of genetic tests and services to consumers is restricted in a number of different ways:

The Food and Drug Administration (FDA) has the authority to regulate prescription drug advertisements.

The Federal Trade Commission (FTC), via the Federal Trade Commission Act, has the authority to regulate over-the-counter drug marketing.

Where can I find more information on genetic testing?

See Genetic Alliance's Monograph: Genetic Testing Stories.

Visit the National Human Genome Research Institute's page on the oversight of genetic tests.

Check out the official journal of Genetic Alliance, Genetic Testing and Molecular Biomarkers, to read articles about genetic testing.

For updates on genetic testing regulations and policies, please explore the following websites:

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