The gene scene

The gene scene

For years now, worried patients — and even just the medically curious — have been able to glimpse their possible health futures through genetic testing. And until recently, the nearly 1,000 genetic tests on the market have been available mainly through the mainstream medical establishment — clinics, hospitals, and doctors’ offices — and have been cautiously interpreted for lay folks by trained genetic counselors.

But that is changing rapidly with the advent of direct-to-consumer (DTC) genetic testing, a booming and controversial subset of the $6 billion genetic testing and molecular diagnostics business.

Because of its potential to mislead consumers — or at least waste their money — the DTC genetic testing industry is generating concern among doctors, patient advocates, and, most recently, the U.S. Senate Special Committee on Aging, which held a hearing in July tellingly entitled, "At Home DNA Tests: Marketing Scam or Medical Breakthrough?"

"It’s a buyer beware marketplace now," said Gail Javitt, law and policy director of the Genetics and Public Policy Center at Johns Hopkins University. "While the public believes genetic testing is subject to government oversight, that is largely not the case."

To those who market such tests, like Ryan Phelan, CEO and founder of DNA Direct in San Francisco, there’s a huge benefit to being able to mail off a DNA sample (a cheek swab or a few drops of blood) and get back a detailed analysis of your possible medical future. It’s particularly attractive for patients who are so concerned about confidentiality that they don’t want to get tested through their own doctors because the results would become part of their medical records — to which many people have access.

Moreover, genetic knowledge has exploded so much in recent years, she said, that many doctors don’t have the time or expertise to do the tests. In the right hands — like hers, she said — DTC testing can be done well. At DNA Direct, there is a pre-screening process to help consumers decide if testing is for them and a free consult by phone with a board-certified genetic counselor after they receive their 30 to 50 page report.

Dr. Fred Ledley, professor and chairman of Natural and Applied Sciences at Bentley College in Waltham, Mass., and the founder of several "personalized medicine" companies, also welcomes DTC genetic testing as "the way of the future. What people really want to buy is privacy and control over information."

But others are far less sanguine, in part because government regulation of these tests is so loose. Consumers going the Internet route risk being sold "personalized" products — like dietary supplements or cosmetics or even exercise programs — that are not personalized at all. They risk spending hundreds to thousands of dollars for generic medical advice — like "Stop Smoking" — that they can easily get elsewhere free.

More important, unless test results are interpreted by a trained genetic counselor, people risk getting misinformation, said Dr. Jeff Milunsky, director of Clinical Genetics at the Boston University School of Medicine Center for Human Genetics. There are hundreds of mutations in two well-known breast cancer genes, BRCA1 and BRCA’, for which reliable commercial tests exist. A woman could be told that she didn’t have the common mutations, but might still be a high risk from less common mutations or a different risk gene altogether, he said.

The Federal Trade Commission does watch out for untruthful advertising claims, but has not been aggressive on DTC genetic testing, said Javitt. Thanks to a law called the Clinical Laboratory Improvement Amendments of 1988, the government regulates the laboratories that conduct the actual genetic testing, but the law does not address the clinical validity of the tests themselves.

Indeed, only about a dozen genetic tests have been reviewed and approved by the U.S. Food and Drug Administration, according to a report to the Senate committee on July ‘7 by the Government Accountability Office. The FDA considers a genetic test to be a medical device only if it is manufactured as a freestanding "kit" and sold to a lab. Most current genetic tests — including those used by mainstream labs — are manufactured by in-house clinical laboratories, in which case the lab itself decides whether the test actually measures what it purports to measure.

To see how DTC tests may affect buyers, GAO investigators bought four tests through the Internet and supplied the testing companies with 1′ DNA samples actually taken from one 9-month old girl and an unrelated 48-year old man, but described as coming from multiple people.

The results, in some cases, were laughable. One site claimed that its expensive dietary supplements could repair DNA damage, which no pill has been shown to do. Others offering supposedly personalized results told smokers to quit and non-smokers to continue to abstain.

The GAO particularly cautioned against tests that purport to tell, by a sample of DNA, that the consumer should buy "personalized" dietary supplements that could cost $1,’00 a year, when the same ingredients could be purchased at a local store for $35 a year.

Despite such concerns, the market for all types of genetic testing is likely to soar. A Harris poll in ’00’ showed that 80 percent of adults think genetic testing is a good thing and half said they would want a test for a serious medical condition even if there were no way to prevent or treat it. The poll also showed that people are willing to spend hundreds of dollars out of pocket to get genetic tests.

Given that demand, the big issue, said Kelly Ormond, immediate past president of the National Society of Genetic Counselors, will be making sure that consumers get the right tests, that the tests are valid, and that results are interpreted by trained genetic counselors.

That’s a tall order, since there are only ‘,000 to 3,000 trained genetic counselors in the United States, who typically have master’s level training, plus another 1,500 or so physicians and some nurses who specialize in genetics.

And that, said Ormond, means that consumers who opt for the DTC genetic testing must be extra savvy. Before handing over your credit card number, ask the Internet company what its test means — will it show you have a clear susceptibility to a certain disease, or just a pattern of clues that may or may not be meaningful? Is there data to show that if you have a "bad" gene that you will get sick later in life, or is that gene just one of many risk factors?

And think carefully about the privacy issue. If you are truly at risk for a serious disease, chances are you’ll see a doctor and that information will wind up in your medical record anyway.

But that issue is tricky. If you are asked by an insurance company if you’ve had such a test and you answer "no," that would be fraud.

Judy Foreman, a former staff writer at the Boston Globe, writes about health.

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