Symposium Eyes the Future of
Direct-to-Consumer Genetic Testing
A woman concerned about her family history of breast cancer can now go to a clinic, have her blood drawn and sent off in the mail, and within weeks receive a call or letter telling her whether she has the genetic mutation that places her at higher risk of developing the disease. Similar tests on the market offer to help people understand their genetic risk of developing heart disease, Type 2 diabetes, and many other disorders.
Proponents of direct-to-consumer genetic tests say that if more people knew their disease risk, they would perhaps take steps to lower it. But these tests also raise difficult medical, ethical, and legal questions: Are they valid and accurate ways to understand people’s level of risk? Are consumers getting good counseling, given that a patient’s doctor doesn’t interpret or deliver the results? In August the National Research Council and Institute of Medicine gathered dozens of researchers, health care workers, agency staffers, and others at a two-day workshop to explore issues surrounding direct-to-consumer genetic tests.
One key issue raised by participants is how well these tests shed light on risk, given the genetic complexity of many diseases. Researchers and doctors have gained the knowledge and experience to identify many diseases linked to a single genetic mutation or duplication. But as research increasingly makes clear, uncovering the genetic triggers of many diseases is not so simple. “We’re now dealing with a whole family of significant, chronic major diseases in humans where the information that’s rapidly accumulating suggests very strongly that there may be no dominant gene that’s going to be the clue to these diseases,” said speaker David Korn, vice provost for research at Harvard University. Illnesses such as heart disease and emphysema may have hundreds of genetic factors involved, and the exact contribution of each is unclear. “There’s a lot more going on in these diseases than simply finding one or two genes that are going to give us the magic bullet,” Korn emphasized.
Other speakers explored privacy issues, such as the ethical quandaries that arise when an individual’s test reveals health risks that may run in the family, but which relatives don’t want to know about. A report summarizing these and other presentations and discussions at the symposium will be published next year. Audio and PDF files of the presentations are available at <sites.nationalacademies.org/PGA/stl/PGA_053096>.
— Sara Frueh