Statement on Direct-to-Consumer Genetic Testing

Newswise — At a time when genetic tests for breast cancer and other inherited diseases are being marketed directly to the public, the American College of Medical Genetics (ACMG) has issued a statement recommending that such tests be provided "only through the services of an appropriately qualified health professional."

The official statement appears in the January/February issue of Genetics in Medicine, official publication of the ACMG. It is accompanied by a commentary from Linda L. McCabe, Ph.D., and Edward R.B. McCabe, M.D., Ph.D., of the David Geffen School of Medicine at UCLA.

A medical geneticist or other health professional should always be responsible for ordering and interpreting genetic tests and for patient counseling before and after testing, the ACMG Board of Directors believes. Without professional guidance, using genetic "home testing" kits carries potential risks of harm, including inappropriate test use, misinterpretation of test results, and inadequate medical follow-up.

In recent years, companies have begun marketing tests for certain genetic diseases directly to consumers. For example, a test to detect alterations of the BRCA genes leading to increased breast cancer risk is being actively marketed over the Internet and other avenues.

In their commentary, the Drs. McCabe emphasize the need for professional counseling to ensure that genetic tests are used properly. Contrary to public expectations, and unlike diagnostic genetic tests, genetic tests for disease susceptibility do not usually provide a "definitive, yes/no answer" about the presence of disease. Rather, "Results from genetic tests often inform only the estimation of the probability of developing a disease or the predictive risk of disease."

Advertisements may be vague about the relationship between test results and disease risk—other factors, such as the patient's and family's medical history, must also be considered. The Drs. McCabe write, "Appropriate counseling is required for a full explanation, and a full understanding, of an individual's predictive risk."

For example, women who have a relative with breast cancer may seek BRCA testing to determine their own risk. However, a better first step would be to test the relative with breast cancer. If the relative with breast cancer has no BRCA gene mutation, then the individual's risk would be no different. "Without information from a trained health professional, an individual also would not know how his or her medical options may be influenced by the results of the test, or even what those options might be," the commentators point out.

The Drs. McCabe cite the literature suggesting that marketing campaigns for genetic tests may have some benefits, including increasing awareness of genetic diseases and the value of genetic counseling. However, they discuss the risks of inappropriate use and interpretation of tests. Other issues of concern include the high costs of inappropriate test use, the insurance implications of positive test results, and potentially misleading or exaggerated advertisements.

The ACMG Board of Directors hope that their new statement will help to educate the public and medical professionals about direct-to-consumer genetic testing, and particularly the importance of professional genetic counseling. They hope the statement will promote further discussion of this increasingly important medical and policy issue.

The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease.

"Direct-to-Consumer Genetic Testing: Access and Marketing" by Linda L. McCabe, Ph.D. and Deward R.B. McCabe, M.D., Ph.D.and"ACMG Statement on Direct to Consumer Genetic Testing" by ACMG Board of DirectorsGenetics in MedicineJan/Feb