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ACMG Releases Updated Statement on DTC Genomics

NEW YORK (GenomeWeb) – The American College of Medical Genetics and Genomics released a statement yesterday updating its position on genomic tests offered directly to consumers without the participation of a medical professional.

In the new updated statement — which replaces a document originally published by the group in 2008 — the ACMG noted the potential harms of such testing if not marketed with transparency to the consumer or conducted and reported with the help of a professional who can adequately inform a consumer about the limitations of testing.

"We felt we needed to set the standard high to get in front of a rapidly developing technology that has the potential both for providing useful information but also for introducing misinformation if not handled appropriately," Christa Lese Martin, an ACMG board member currently serving as vice president for laboratory genetics, said in a statement.

Included in the updated position are some minimum requirements that ACMG recommends any company offering DTC tests have in place, such as performing testing only in a CLIA lab, making certified genetics experts available to assist consumers in interpreting test results, and dealing with a range of privacy concerns before someone is tested.

The statement also warns against the pitfalls of genetic testing that is conducted without the guidance of a genetics professional, including lack of appropriate informed consent, testing of people who shouldn't be tested, and misinterpretation of results, including how they can cause consumers to make poor choices on disease management, prevention, or other follow up.

In the updated statement, the ACMG recommended that "the consumer should be fully informed regarding what the test can and cannot say about his or her health."

Many DTC tests do not offer a definitive yes or no answer regarding disease, but rather inform on the probability of developing a particular disorder. Communicating the meaning of this probabilistic forecasting is difficult, the ACMG noted, and must be conducted in an understandable fashion that is linguistically and culturally sensitive.

The statement specifies that "the consumer should be apprised of the potential for receiving results that can neither confirm nor rule out the possibility of disease, or unexpected results that are unrelated to the specific reason for testing, as well as the implications of genetic test results for family members."

Moreover, companies must provide clear descriptions of their tests' validity and utility and provide customers with the scientific evidence to back these measures up, the group added.