At-Home Genetic Testing Raises Questions

Monday, March 7th 2005, 10:20 am

By: News On 6

SAN FRANCISCO (AP) _ Commercials hawking prescription drugs directly to consumers have driven doctors crazy for years. Now comes a new kind of medical marketing that is already troubling some medical professionals: at-home genetic testing.

An increasing number of online startups are marketing tests that can show predisposition to any number of maladies, from breast cancer to blood clotting. They are exploiting the blizzard of genetic discoveries reported almost daily since scientists published the complete map of all human genes five years ago.

The tests are cheap, easy to administer, often just a cotton swab inside the cheek, and the results are available online, cutting out the visit to the doctor's office.

Plus, the companies note, the test results aren't usually jotted down on official medical histories, which keeps sensitive information away from insurance companies.

``We are empowering patients with knowledge,'' said Ryan Phelan, who recently launched the San Francisco-based testing company DNA Direct.

The company currently offers genetic testing, a la carte with prices ranging from $199 to $380, for a predisposition to cystic fibrosis, blood clotting, iron overload and a heightened risk for lung and liver diseases. Testing positive can help customers make lifestyle changes to prevent the onset of disease, the company says.

This week, in a small but dramatic move validating the popularity of the online approach, DNA Direct will begin offering two popular breast cancer tests created and conducted by Myriad Genetics, the most visible player in the field of ``predictive medicine.''

DNA Direct's breast cancer testing plans are modest. Initially, it will offer two of Myriad's less-complicated tests, which screen for only a few mutations on the key genes. DNA Direct expects the tests to cost roughly $300 each.

Since Myriad launched its tests in 1996, demand has skyrocketed.

The company declined to disclose exactly how much in sales the tests accounted for last year, but its regulatory filings showed its ``predictive medicine'' revenues have grown from $8.8 million in 2000 to $43 million through the 12 months that ended June 30. The company's breast cancer tests accounted for the bulk of those sales, a spokesman said.

Until DNA Direct came along, Myriad made the breast cancer test available only to patients who visited a doctor's office or a cancer clinic.

Because DNA Direct employs doctors and genetic counselors to advise its customers, Myriad insists its deal with the company is no different from its traditional arrangements. Myriad still requires a doctor's order and a signed ``informed consent'' form for each test it processes.

``As far we are concerned, there is still a qualified physician involved at DNA Direct,'' said Myriad marketing vice president Bill Rusconi. ``This makes perfect sense to us. In some parts of the country, it's darn hard to get to a physician.''

Still, as the popularity of at-home genetic tests soars, so do questions about whether they will be correctly interpreted. Skeptics fret that the online companies don't have the expertise to properly explain the often complicated results.

There are only about 2,000 genetic counselors in the United States, the majority of whom work with pregnant women.

A Centers for Disease Control and Prevention study last year found that primary care doctors in Atlanta and Denver were largely ill-prepared to handle a surge in demand for Myriad's tests after the company tested a $3 million direct-to-consumer advertising blitz in those two cities between September 2002 and February 2003.

And as the technology gets more powerful _ the day when a patient's entire genetic blueprint can inexpensively fit onto a compact disk is within sight _ the problem with interpreting results will only worsen.

``As often is the case, science is running ahead of public policy,'' said Dr. Francis Collins, the head of the National Human Genome Research Institute and leader of the government team that published the human genetic map.

The map was a scientific milestone that has made many of these companies possible.

Collins said most patients still need doctors and genetic counselors to help them interpret their test results, services most online companies don't offer. He said it appears DNA Direct is a cut above most genetic testing companies because it employs doctors and genetic counselors. But he said he still worries about cutting the primary care physician out of the equation.

At worse, Collins and others question the validity of some of the tests offered in the largely unregulated market.

``Genetic testing offers enormous promise,'' Collins said. ``But the majority of claims that are made on those Web sites aren't scientifically sound.''