Updated On Feb 25, 2022
This information is meant to be used for educational purposes to inform providers, patients, and genetic service delivery stakeholders about genetics policy topics. Sharing of information, resources, or policy statements is no way an endorsement of stated positions by NCC.
Direct-to-Consumer (DTC) genetic testing are tests that are ordered directly from the laboratory by the individual being tested, often without the input of a medical provider. These tests can be risk assessments (i.e., determines an individual’s risk of developing disease, but cannot determine if the individual has the disease), diagnostic, or carrier testing (i.e., tries to determine the risk of having a baby with a specific disease). The level of support the genetic testing laboratory offers in helping the patient understand their results vary widely.
Many articles have been written about DTC genetic testing. A summary of the issues surrounding DTC genetic testing are discussed in ”Direct-to-consumer genetic testing: advantages and pitfalls,” which can be found in this article. The National Human Genome Research Institute (NHGRI) has also created a page of information that includes resources and a FAQ page for healthcare professionals. Some of the concerns raised in these, and other, writings are:
- Because DTC tests are ordered by the patient without input of a provider, are patients getting enough information to understand the limitations of the testing and the implications of the results?
- What obligations do DTC companies have? Do they need to provide pre-test counseling, follow-up care, or answer a patient’s questions?
- When patients order DTC tests, whose responsibility is it to do any follow-up, such as answering questions?
- If a patient has questions about a test that their health insurance wouldn’t have paid for, is that health insurance obligated to pay for a provider to answer questions?
- If a DTC test shows that someone may be at risk of having a condition, but has no other symptoms, who should pay for confirmatory testing?
- If a DTC test reveals previously unknown family relationships, does the DTC company have any obligation for counseling of the patient?
Legislation and Regulation
The federal agency that regulates DTC testing is the Food and Drug Administration (FDA). For more information including a list of DTC tests with marketing authorization and a section on frequently asked questions about DTC testing, please visit the FDA’s website.
Are you interested in learning what your state’s government or the federal government are currently proposing for either legislation or regulation? Check out Legislative/Tracking system for up-to-date information and subscribe to our Twitter channel to get the latest updates in your pocket.
Organizations working within the genetics community (national genetic organizations, advocacy organizations, etc.) have published positions on direct-to-consumer testing. Explore these position statements below.