The human genome project has spawned a new commercial field, molecular diagnostics. Some companies charge as much as US$350 000 to scan a person's entire genome to forecast disease risk. Other companies claim to be able to diagnose and determine the most effective treatment for people who are at high risk of developing specific diseases.
Medical groups have expressed doubts about the validity, effectiveness, and clinical usefulness of direct-to-consumer genetic testing. More harm than good is done, for example, by false reassurance from unproven genetic tests or by unreliable information that could lead patients to terminate a pregnancy or seek surgery.
In the USA, tests developed and done by individual laboratories are supervised by the Centers for Medicare & Medicaid Services and require only demonstration of technical reliability. By contrast, test kits sold to laboratories, hospitals, and doctors (such as pregnancy or HIV tests) are regulated by the US Food and Drug Administration (FDA). Currently, few genetic tests are marketed as kits, which are considered in-vitro-diagnostic devices. This situation leaves the consumer at the mercy of companies marketing genetic tests without acceptable proof of clinical reliability.
Last week, the FDA made a positive move. A warning letter sent to the Laboratory Corporation of America, the nation's second-largest clinical laboratory company, states that the company's OvaSure test is illegally marketed and poses a potential public-health risk. Introduced in June, the test measures six proteins in blood to assess whether or not a women has ovarian cancer. Because the test was not designed, developed, and validated by the company, and since it is intended for use as a diagnostic tool, the FDA states that the product requires proof of efficacy.
Although critics worry that overregulation might impede innovation, most agree that genetic testing is in its infancy and needs further validation in reproducible large-scale clinical studies. The long-term hope is that genetic testing will change medicine from treatment to prediction and prevention. Now is the time for a broad debate to decide the appropriate level of regulation for direct-to-consumer genetic tests, so that the results of such tests can truly inform care.