American College of Medical Genetics revises position statement on direct-to-consumer genetic testing
In response to increasing availability of genetic testing opportunities and consumer demand, the American College of Medical Genetics (ACMG) has updated its 2008 position statement on direct-to-consumer genetic testing. In this statement, authored by the ACMG Board of Directors, the recommended minimum requirements for genetic testing that may reveal health-related information include the following:
- Laboratory accreditation by Clinical Laboratory Improvement Amendments (CLIA) program, state, and/or other applicable accrediting bodies;
- Involvement of a knowledgeable medical professional in test ordering;
- Availability of a board-certified genetics professional to assist with interpretation and delivery of test results to consumer;
- Availability of a genetics expert such as a certified medical geneticist or genetic counselor for decisions about use and clinical application of test results;
- Incorporation of linguistically and culturally appropriate information regarding a test’s ability to predict a patient’s risk for a given condition;
- Education about issues that may arise with interpreting test results (e.g., unclear clinical application of test results, incidental findings, implications for family members);
- Provision of clear information regarding the evidence, validity, and utility of a genetic test; and
- Appropriate strategies to address privacy and ethical concerns (e.g., long-term implications of test results, storage of DNA sample).
With the increasing availability and decreasing cost of direct-to-consumer genetic testing, guidance documents such as this provide an important reference to help clinicians navigate unfamiliar clinical scenarios with complex clinical implications.
To empower patients to seek out appropriate information, ACMG provided a list of questions that consumers should ask when considering genetic testing:
- Is the laboratory performing the test accredited by CLIA?
- Who will have access to the test results?
- Do you have board-certified genetic professionals available to me to help interpret the test results and answer my questions?
- What processes are in place to protect the results?
- What will happen to the DNA once testing is complete?
- Will the data be sold to or shared with any third parties?
Clinicians can continue to educate patients about these and other difficult questions that may arise in this process. “It is critical for public to realize that genetic testing is only one part of a complex process that includes genetic risk, assessment, diagnosis, and disease management,” wrote the ACMG Board of Directors in the position statement.
American College of Medical Genetics Board of Directors. Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:207-8.