[MMA News Now, August 26, 2010] The availability of over-the-counter and direct-to-consumer genetic testing kits a source of concern among Minnesota physicians. According to the Federal Drug Administration, these kits have not been proven safe, effective or accurate, and physicians may soon be inundated with requests to interpret the lengthy genetic results from these tests.

The Minnesota Medical Association Ethics and Medical-Legal Affairs committee is studying the issue in response to apprehension from members. The committee found that the reason for the concern is that a company that sells direct-to-consumer genetic testing kits, Myriad, has posted advertisements in Twin Cities OB/GYN clinic. In other markets, the company has launched television advertising campaigns to promote their testing kits.

At one time, genetic tests were ordered only by a physician, nurse practitioner or perhaps a genetic counselor as part of a patient’s physical exam. The test results came from a laboratory and were interpreted by the healthcare provider who also took into account the patient’s medical history and family history before the results were discussed with the patient.

Today, genetic testing kits are being marketed directly to consumers as a convenient and easy way for them to be able to recognize genetic predispositions to inheritable diseases and a way to take a proactive approach to their healthcare. The tests can be purchased on-line through approximately 30 companies, and in some states they are also sold over-the-counter at supermarkets and pharmacies.

Although the tests may be easy for the consumer to obtain and take (usually only a saliva sample or a cheek swab is required), the test results are oftentimes lengthy (over 100 pages long) and difficult to interpret without the assistance of a physician or a genetic counselor. The National Cancer Institute, Federal Trade Commission and new director of the National Institutes of Health, Dr. Francis Collins, have all questioned the predictive value of the tests. Collins, who presided over the Human Genome Project from 1993 until its completion in 2003, sent his own DNA to three major testing companies with a disappointing outcome, the San Diego Union-Tribune reported.

Direct to consumer genetic testing kits pose series of potential problems: consumers may be misled by the results of unproven or invalid tests; environmental and other genetic factors also play a role in whether the person may contract a particular disease, and these results do not take those factors into account; although the consumer likely paid out-of-pocket for the genetic testing kit, it is unclear whether patients should also be personally responsible for paying for physicians to help interpret the test results. There may also be informed consent and privacy issues.

The MMA will continue to study this issue and keep members informed.