The source: “Federal Neglect: Regulation of Genetic Testing” by Gail H. Javitt and Kathy Hudson, in Issues in Science and Technology, Spring 2006.

Suppose you’re a pregnant woman, and you read an adver­tisement touting a genetic test that can predict whether your unborn child might develop cystic fibrosis. Even though you know there are all kinds of potential threats to your child, you keep picturing that smiling woman holding her baby: Wouldn’t it be better to be certain?

As Gail H. Javitt and Kathy Hudson point out, such a test may not guarantee any clear answers. Javitt, a policy analyst at Johns Hopkins University’s Genetics and Public Policy Center and a researcher at the university’s Berman Bioethics Institute, and Hudson, who directs the center and is a professor at the institute, report that the federal government “exercises only limited oversight of the analytic validity of genetic tests.” That oversight only covers a small portion of the tests currently available to patients that screen for more than 900 genetic diseases. For most of the tests—which can influence such critical decisions as whether to undergo prophylactic mastectomy or termin­ate a pregnancy—the only vouchsafe of accuracy comes from the laboratories that perform them. The laboratories are held to overall federal standards of proficiency, but the government has created no specific standards for genetic tests.

Genetic tests fall into two broad categories, “test kits” and “home brews.” Test kits contain all the necessary elements—such as reagents, as well as instructions for conducting and interpreting the test so that a laboratory can perform a particular genetic test. The Food and Drug Admin­istration (FDA) regulates test kits as medical devices, but so far only four have been approved. Most genetic tests fall into the largely unregulated “home brew” category, so called because laboratories concoct their own chemical combinations and procedures. (The FDA does regulate the reagents used in such tests.) No pre- or postmarket assessment is done by either the FDA or the U.S. Centers for Medicare and Medicaid Services of the effectiveness of home brew tests.

Even if a test is accurate, there are questions about how to interpret the results. Does the presence of a particular gene, for example, really mean the individual is prone to a certain disease? What is the risk? There is “virtually no oversight” of such questions of “clinical validity.” That is a special source of concern in the case of genetic tests marketed directly to consumers, often over the Internet. Only a handful of such tests are currently available—for susceptibility to depression or osteoporosis, for example—but the number is certain to grow.

Consumers are easy prey for misleading advertisements, and they “lack the requisite knowledge to make appropriate decisions about whether to get tested or how to interpret test results,” Javitt and Hudson argue. While some state governments have attempted to step in where the federal agencies fear to tread, “as of 2001, more than half of the states permitted [direct-to-consumer] testing for at least some types of tests.” The Federal Trade Commission has so far done nothing to curb genetic testing ads.

Javitt and Hudson believe that the FDA and other government agencies already have the means and authority to review genetic testing but lack a clear mandate to do so. New legislation that clarifies oversight authority, they conclude, is needed to ensure the “quality of all genetic tests and the safety of consumers.”