Genetic Testing Should Be Conducted By Qualified Health Professionals

The unregulated growth of genetic tests marketed directly to consumers will have a significant adverse impact on consumers and undermine the physician-patient relationship. In many cases, it also represents the unauthorized practice of medicine.

In a letter to the Food and Drug Administration (FDA; Rockville, MD, USA), the American Medical Association (AMA; Chicago, IL, USA) called for genetic testing to be conducted under the guidance of a physician, genetic counselor, or other genetics specialist. The letter was sent to the Molecular and Clinical Genetics Panel of the FDA's Medical Devices Advisory Committee regarding direct to consumer genetic tests prior to the panel's hearings on the topic, scheduled for March 8-9, 2011.

Direct to consumer (DTC) genetic tests may offer some benefits, such as promoting awareness of the genetic basis of disease and increasing attention to healthy behaviors that prevent the onset of disease. However, the AMA is concerned about the potential of DTC genetic tests to cause harm to consumers and over time increase health care costs.

Without the guidance of a physician, genetic counselor, or other genetics specialist, test results could be misinterpreted, risks miscalculated, and incorrect health and lifestyle changes pursued. At the very least, consumers will waste money purchasing tests with little value.

Patients could make important reproductive decisions based on the results of carrier screening for hereditary diseases. These decisions require careful consideration of both the screening results and other factors, and it is essential that a physician or other genetics professional ensure that patients are well informed before making such decisions.

Genetic tests often require a complete clinical context to be meaningful. A positive result does not necessarily indicate a clinical diagnosis; instead, it may indicate an increased risk for developing a disease or condition, the phenotypic manifestations of which are variable in individuals. Conversely, since only a fraction of testable mutations are identified for genetically based diseases, a genetic test with a negative result is not indicative of the absence of disease risk.

"Without the benefit of proper medical counseling, patients may spend money on direct to consumer genetic tests needlessly or misinterpret the results of the tests, causing them to make unnecessary or unhealthy lifestyle changes," said AMA chair Ardis D. Hoven, MD. "While genetic testing can be a valuable tool to aid in diagnostic and therapeutic decisions, it should be done under the guidance of a physician, genetic counselor, or other genetics specialist. These health professionals are best prepared to help patients understand the results and the limitations of the tests, and what type of action should occur based on the results."

Related Links:
Food and Drug Administration
American Medical Association