Genetics and Newborn Screening

Direct-to-Consumer Testing

(DTC Testing)

Definition

While there are more than 1,100 genetic tests available clinically, most are currently available only through a health care provider. Direct-to-consumer (DTC) genetic testing differs from traditional genetic testing in that consumers order tests and receive test results directly from DTC companies. DTC tests are typically advertised and sold directly to consumers through television, Internet or print advertisements. Upon ordering a test, the consumer receives a sample collection kit (i.e. buccal swab or blood spot collection) from the testing company. The consumer sends back the sample; the company performs the test and sends a test report via the Internet or mail back to the consumer.

While DTC testing increases the awareness of the public regarding their risks for hereditary conditions and risk reducing options such as screening and lifestyle modifications, it also may generate confusion, anxiety and even false reassurance. There is also the potential for results of such testing to be misinterpreted or misused. This is especially true when testing does not involve the expertise of a health care professional. Geneticists and genetic counselors work with individuals or families who have genetic diseases, who are at risk for such a disease, or who wish to learn about their genetic history. They are uniquely trained to identify those who would benefit from genetic testing, educate those who undergo genetic testing, help prepare individuals for what they might learn from testing, identify resources for the family and help individuals and families make informed decisions.

While DTC genetic testing may increase access to medical testing services for some individuals, consumers should talk with a healthcare provider and/or a genetics professional prior to testing to determine which, if any, testing is appropriate.

Types of Direct-to-Consumer Genetic Tests and Options

The range of DTC tests available are broad. Some tests may diagnose genetic conditions or carrier status, such as single-gene disorders like cystic fibrosis, while others aim to predict a person’s chances of developing certain medical disorders, such as breast and ovarian cancer or predisposition to complex, multifactorial diseases like depression and cardiovascular disease. In addition, DTC tests are also available for various non-medical purposes like paternity, ancestry and “nutrigenomics,” which make recommendations regarding lifestyle changes in diet or use of nutritional supplements based on testing results. DTC testing may or may not influence choices about one’s health care and management; however, a one-size-fits-all approach is not appropriate for DTC testing.

Advantages and Disadvantages of Direct-to-Consumer Testing

Advantages include:

Affordable: Prices vary, but cost may be as low as $300.

Accessible: Geographic location does not limit one’s ability to obtain DTC testing.

Privacy: Information can be kept from insurance companies.
***The Genetic Information Nondiscrimination Act (GINA) was signed into law on May 21, 2008, and enables individuals to make choices about pursuing genetic testing without concern about losing health coverage or paying higher insurance premiums. Health insurers and employers cannot request or require genetic information for their decision-making processes and an individual’s employment status cannot be determined or affected by knowledge of genetic information. ***

Public awareness: Public education and awareness of the role of genes in the development of common disorders is important for everyone.

Empowerment: Knowing about your genetic risk factors can promote proactive healthcare.

Education: Some DTC companies provide detailed patient education materials for common conditions.

Disadvantages include:

Misinterpretation: Patients can be misled about the significance of the results or about possible ‘proactive’ treatments (supplements, diet changes, etc). An individual may feel a false sense of security based on the results, even if a risk still exists for that condition. Conversely, some may overemphasize the significance of a test result, causing unnecessary anxiety and stress.

Blind decisions: Poor health decisions can be made based on misinterpreted results.

Inaccurate or unsubstantiated results: Test results may come from a non-CLIA certified lab and/or test interpretation may not be based on peer-reviewed results replicated in other labs.

Poor regulations: Currently, there is a lack of government regulation regarding DTC testing.

Lack of counseling: When using DTC testing, the involvement of a physician or genetic counselor is usually not required, yet most people would greatly benefit from these services.

Additional Organizational Policy Statements and Recommendations on Direct-to-Consumer testing

American College of Medical Genetics (ACMG) - PDF
American Society of Human Genetics (ASHG) - PDF
National Society of Genetic Counselors (NSGC)





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