As genetic tests become integrated into clinical practice, we can expect more direct-to-consumer advertising for genetic testing. This case study and commentary begins with the authors’ attendance at a play about a woman who is dying from ovarian cancer. While thumbing through the playbill, the authors noted a full-page advertisement taken out by a biotechnology company for its commercial BRCA1 and BRCA2 genetic test. The authors found the advertisement to be manipulative, misleading, and misguiding. The advertisement seemed to imply that large numbers of women are at risk of developing genetic breast cancer and might benefit from testing. While the advertisement suggested that testing can dispel the fear of contracting breast cancer, it failed to mention that only a small percentage of women who will eventually suffer from breast cancer will test positive for BRCA1 or 2. The advertisement also asserted that the law forbids health insurance discrimination. In truth, protection from discrimination can be difficult to enforce. The Healthcare Insurance Portability Accountability Act provides only narrow protection from loss of employer-based insurance and no protection against increases in insurance premiums. Finally, the advertisement encouraged women to manage their own health care by contacting the company directly, bypassing the physician or medical caretaker familiar with the patient, her history and her family history. While advertisements for pharmaceuticals directed at the general public usually include a suggestion that consumers discuss the product with their physician, this advertisement lacked even that suggestion.
The Human Genome Project has led to the proliferation of genetic tests for both common and rare disorders. The availability of these tests, however, is not always accompanied by treatment or prevention strategies that would alter the course of the disorder. Parents become aware of genetic testing opportunities from advertising, internet, and other sources.1 They believe they have a right to this information and may request these tests for their children while failing to understand the genetic or other ramifications of this information.2,3 While genetic testing might benefit parents by reducing uncertainty and improving the ability to plan, testing can also lead to stigmatization, false reassurance, and a tendency to become overprotective.4,5
Genetic testing in children is widely accepted when a child has symptoms or risk factors for a genetic disorder for which treatment is available or preventive efforts might be effective.4,6,7 However, many genetic tests are for untreatable, late-onset disorders with variable penetrance. In short, the information will not directly benefit the child medically. Testing in the latter circumstance becomes increasingly problematic, with differing views about when such testing should be allowed and who should have the authority to consent.5,7
If parents are to make reasonable decisions about genetic testing, they must understand not only the quality and accuracy of the test, but the difference between testing children who are symptomatic, testing those who will become...