Friday, June 13, 2008

You've Had a Genetic Test. Now What?

A new project aims to incorporate the results of genetic screening into medicine.

By Emily Singer

Personalized medicine: A participant in the Coriell Personalized Medicine Collaborative, a project to incorporate genomic information into medical practice, provides a saliva sample for DNA analysis. Credit: Coriell Institute

Multimedia   See the processing and analysis of DNA samples.

Tests that look for genetic variations linked to a number of common diseases are now available over the Internet. But a patient who walks into the doctor's office with a thick file of genetic information will probably find that the doctor has no idea what to do with it. A new project, launched in December by the Coriell Institute for Medical Research, in Camden, NJ, aims to change that.

The institute will offer free genetic testing to 10,000 local volunteers over the next two years. Participants will get information on their genetic risk for a number of diseases and a way to share that information with their physicians. The program will also help both physicians and patients learn what to do with genetic information once they have it. Researchers will examine every step of the process to figure out how physicians can best incorporate genetic information into their practice to prevent and treat disease.

"Even though what's medically relevant is limited, the technology to do these studies is exploding," says Michael Christman, president and CEO of the institute. "It's early days, but we need to start thinking about this right now."

In the past two years, scientists have published a flood of studies linking specific genetic variations to heightened risks of contracting disease, such as diabetes or cardiovascular disease. The findings are becoming commercialized almost as quickly as they're announced. In theory, awareness of risk can help patients take measures to prevent disease onset. Those at higher risk of breast cancer might receive more frequent screening, for instance, or those at risk of cardiovascular disease could start taking statins.

But the very speed with which the tests have reached the market--and the fact that they are available online--has raised a number of concerns. Can consumers understand the results without the help of professionals? Can their physicians? And most important, can the information truly improve patients' long-term health? "We need to evaluate the relevance of these genes in terms of their disease risk and clinical utility," said Ulrich Broeckel, director of the Individualized Medicine Institute at the Medical College of Wisconsin, in Milwaukee, at the Beyond Genome conference in San Francisco on Wednesday.

The Coriell Personalized Medicine Collaborative will offer services similar to those provided by private companies, such as Navigenics, DeCode, and 23andMe. All three of those companies use microarrays--chips studded with fragments of DNA--to screen DNA for specific genetic variations. But the Coriell project will offer a narrower range of results, and it will make a direct effort to involve medical professionals. "We want to build a model of an ethical, responsible, genome-informed medical practice," says Christman. "This is important because it's not being taken on by any government agencies." (Currently, few genetic tests are regulated by the federal government.)

While final details of the project have not yet been determined, it's likely that participants will initially be offered risk information on 11 different conditions, including breast and prostate cancer, type 2 diabetes, cardiovascular disease, and macular degeneration.