What is direct-to-consumer genetic testing?
Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person's genetic information without necessarily involving a doctor or insurance company in the process.
If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor's office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.
The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care, and offer a means for people to learn about their ancestral origins. At-home genetic tests, however, have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.
Genetic testing provides only one piece of information about a person's health-other genetic and environmental factors, lifestyle choices, and family medical history also affect a person's risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.
For more information about direct-to-consumer genetic testing:
The American College of Medical Genetics, which is a national association of doctors specializing in genetics, has issued a statement on direct-to-consumer genetic
testing (http://www.acmg.net/AM/Template.cfm?Section=Policy_ Statements&Template=/CM/ContentDisplay.cfm&ContentiD=2975).
The American Society of Human Genetics, a professional membership organization for specialists in genetics, has also issued a statement on direct-to-consumer genetic testing in the United States (http://ashg.org/pdf/dtc_statement.pdf).
The Federal Trade Commission (FTC) works to protect consumers and promote truth in advertising. The FTC offers a fact sheet for consumers (http://www.ftc.gov/ bcp/edu/pubs/consumer/health/hea02.pdf) about the benefits and risks of at-home genetic tests.
An issue brief on direct-to-consumer genetic testing (http://www.dnapolicy.org/ policy.issue.php?action=detail&issuebrief_id=32) is available from the Genetics & Public Policy Center.
The Genetic Alliance also provides information about the promotion of genetic testing services directly to consumers (http://www.geneticalliance.org/ issues.testing.consumers).
Additional information about direct-to-consumer marketing of genetic tests (http://www.genome.gov/12010659) is available from the National Human Genome Research institute.
How can consumers be sure a genetic test is valid and useful?
Before undergoing genetic testing, it is important to be sure that the test is valid and useful. A genetic test is valid if it provides an accurate result. Two main measures of accuracy apply to genetic tests: analytical validity and clinical validity. Another measure of the quality of a genetic test is its usefulness, or clinical utility.
• Analytical validity refers to how well the test predicts the presence or absence of a particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic variant is present or absent?
• Clinical validity refers to how well the genetic variant being analyzed is related to the presence, absence, or risk of a specific disease.
• Clinical utility refers to whether the test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer.
All laboratories that perform health-related testing, including genetic testing, are subject to federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA) or even stricter state requirements. CLIA standards cover how tests are performed, the qualifications of laboratory personnel, and quality control and testing procedures for each laboratory. By controlling the quality of laboratory practices, CLIA standards are designed to ensure the analytical validity of genetic tests.
CLIA standards do not address the clinical validity or clinical utility of genetic tests. The Food and Drug Administration (FDA) requires information about clinical validity for some genetic tests. Additionally, the state of New York requires information on clinical validity for all laboratory tests performed for people living in that state. Consumers, health providers, and health insurance companies are often the ones who determine the clinical utility of a genetic test.
It can be difficult to determine the quality of a genetic test sold directly to the public. Some providers of direct-to-consumer genetic tests are not CLIA-certified, so it can be difficult to tell whether their tests are valid. If providers of direct-to-consumer genetic tests offer easy-to-understand information about the scientific basis of their tests, it can help consumers make more informed decisions. It may also be helpful to discuss any concerns with a health professional before ordering a direct-to-consumer genetic test.
For more information about determining the quality of genetic tests:
The Centers for Disease Control and Prevention (CDC) provides an explanation of the factors used to evaluate genetic tests (http://www.cdc.gov/genomics/gtesting/ ACCE/index.htm), including analytical validity, clinical validity, and clinical utility, as part of their ACCE project. Additional information about the ACCE framework (http://www.phgfoundation.org/tutorials/acce/) is available in an interactive tutorial from the PHG Foundation.
A brief overview of the regulation of genetic testing (http://www.dnapolicy.org/ policy.issue.php?action=detail&issuebrief_id=10) is available from the Genetics & Public Policy Center.
The Genetic Alliance offers information about the quality of genetic tests and current public policy issues (http://www.geneticalliance.org/issues.testing.quality) surrounding their regulation.
An interactive tutorial about clinical utility (http://www.phgfoundation.org/tutorials/ clinicalUtility/) is available from the PHG Foundation.
The U.S. Centers for Medicare and Medicaid Services (CMS) provide an overview of the Clinical Laboratory Improvement Amendments (CLIA) (http://www.cms.gov/ Regulations-and-Guidance/Legislation/CLIA/).
Additional information about the oversight of genetic testing in the United States is available from a Report of the Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS) (http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_ oversight_report.pdf).