FDA: Genetic Tests Need to be Regulated
During a stay at a resort two years ago, Carol Arand bought $4,000 in genetic tests after a spa physician praised their potential to improve her health.

If ever she got sick, Arand reasoned, she could take the results to her doctor. "I hoped that this genetic fingerprint could be useful," she said.

But that expectation — the promise that many consumers see in genetic testing — hasn't yet been realized. When Arand discovered she had breast cancer and brought the reports to a hospital earlier this year, an expert looked them over with dismay.

The information — vague statements about several dozen genetic variations and their possible health implications — was misleading and the accompanying health claims unsupported, said Tinamarie Bauman, manager of high-risk genetics at Alexian Brothers Hospital Network in the Chicago suburbs.

Many experts agree that health-related genetic testing isn't ready yet to be introduced to a mass audience. Yet several companies have been marketing tests that purport to assess serious concerns, such as the risk of developing diabetes, with remarkably little oversight.

That may be about to change. The Food and Drug Administration moved aggressively last week, putting five companies on notice that it believes personal genetic tests are medical devices and, as such, subject to regulation. Until now, the federal agency has been "conspicuous by its absence," said Dan Vorhaus, editor of the Genomics Law Report.

Three of the companies — 23andMe, Navigenics and deCode Genetics — sell personal genetic tests over the Internet. Illumina Inc. sells a chip used to scan DNA; Knome Inc. provides complete scans of an individual's genome.

The FDA first signaled a possible shift in direction after another firm, Pathway Genomics, last month moved to sell genetic test kits through Walgreens drugstores. The plan was quickly shelved, but a high-profile congressional committee launched its own investigation.

The tests prompting attention are not the highly specialized DNA scans ordered by physicians. Instead, these consumer-oriented offerings evaluate an individual's risk of developing various illnesses or responding variably to different medications, based on test findings.

That is problematic because most of the genetic contribution to disease remains unknown, as does the manner in which genes interact with each other and the environment, said Darrel Waggoner, associate professor of human genetics at the University of Chicago.

"We're at an early stage in our knowledge of the human genome," said Dr. Muin Khoury, director of the National Office of Public Health Genomics at the U.S. Centers for Disease Control and Prevention. "What we have now is data points, not knowledge."

Yet consumers may make important medical decisions based on test results, such changing drug regimens or deciding to forgo exams such as mammograms, experts suggested.

Others respond that consumers have a right to their genetic information, however sensitive, incomplete or complicated it may be.

"Generally, I think that people can handle information and that more information is better," said Dr. David Orentlicher, co-director of the Center for Law and Health at Indiana University.

Arand, a Crystal Lake landscape designer, says she has no regrets about ordering a panel of genetic tests after attending a workshop on personalized medicine at Canyon Ranch in 2008.

Dr. Jyotsna Sahni, a physician at the Arizona resort, was the speaker. "Canyon Ranch is trying to catch you before you fall into the river of disease," she said. Information about genetic vulnerabilities can alert people to health risks and motivate them to stay healthy, she added.

The "Genovations" tests Arand took offer lifestyle advice while highlighting several dozen genetic markers allegedly linked to disease. For instance, someone with a marker linked with asthma and allergies may be told to reduce stress, get adequate sleep and exercise regularly.

But a 2008 review of a dozen personal genetics test, including Genovations, found "insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention." The paper appeared in the American Journal of Human Genetics.

Dr. Patrick Hanaway, chief medical officer of Genova Diagnostics, a North Carolina company that sells the tests, disputed that assessment, saying scientific studies exploring the value of personalized medicine are published every week. But Khoury and other experts say it's too soon to draw definitive conclusions from those findings.