Shining a light on genetic testing

[Source: Ken Alltucker, The Arizona Republic] - Arizonans can buy tests that predict whether they are likely to get cancer, develop thinking problems or even go bald.

Such tests can be purchased over the Web in the largely unregulated market of direct-to-consumer genetic testing. A handful of Arizona companies and institutes already sell or are developing such tests.

And while federal regulators largely have taken a hands-off approach to scrutinizing this burgeoning industry, California regulators last month issued cease-and-desist letters to 13 companies that sell the tests.

Watchdogs embraced the California crackdown because they believe that more government scrutiny is desperately needed to rein in a freewheeling industry.

Scientists, counselors and others have been critical of the government's oversight and worry that consumers may be making medical decisions based on unproven tests that are not backed by sound science.

The stakes are high in Arizona and elsewhere as companies either sell tests or are developing diagnostics with an eye toward a medical era when such tests are a standard part of care.

"People think these tests will provide them good information that will modify their health," said Angela Trepanier, president of Chicago-based National Society of Genetic Counselors. "I am worried they are making health decisions based on tests that may not be valid."

The emergence of the genetic-testing industry has been made possible by the unlocking of the human genome, which provides scientists and doctors unprecedented information about an individual's DNA and how wayward genes contribute to disease.

Now, more than 1,500 such molecular-level tests are available, through doctors, certified labs or direct sales to consumers over the Internet.

Some gene tests have been widely accepted in the medical community. One test is used to predict whether a breast-cancer patient is likely to respond to the drug Herceptin. Another measures KRAS gene mutation in colon-cancer patients The KRAS test, sold by Caris MPI in Phoenix and a handful of other companies, predicts whether two existing drugs, Erbitux and Vectibix, are likely to work on colon-cancer patients.

Questionable tests

In California's probe of the 13 genomics companies, the state cited questions about whether the labs were certified and whether physicians monitored the tests. Earlier this year, the state of New York also sent similar enforcement letters to a half-dozen companies.

HairDx was among the companies named by California. The Irvine, Calif.-based company sells a test that predicts baldness.

This week, the company announced it is dropping its direct-to-consumer sales. In Arizona, the company sells its test at the Bosley Medical hair-restoration clinic in Scottsdale.

HairDx representatives said they don't think tougher oversight of the baldness-gene test is necessary.

"For a test like ours, I don't think it's a big deal," said Jon Boroshok, spokesman for HairDx. "We are looking at a genetic test for baldness. We are not curing cancer."

Provista Life Sciences in Phoenix sells the Bt Test that it says can help detect breast cancer. It considers the test to be a "diagnostic" one even though it's based on identifying biomarkers associated with disease.

William Gartner, CEO at Provista, said that he believes that direct-to-consumer genetic testing is bringing scrutiny to the medical testing industry overall.

"There are companies that offer tests that don't mean anything," Gartner said. "Those companies have brought regulation upon the industry. They deserve to be regulated out of business."

Among the firms targeted by California includes Navigenics, a Redwood Shores, Calif.-based genetic-profiling company that was co-founded by TGen's former deputy director, Dietrich Stephan. Stephan is on sabbatical from TGen.

Navigenics charges members $2,000 followed by small annual payments for gene scans of more than a dozen potential diseases.

Navigenics officials said the company believes it meets California's requirements.

More oversight needed?

Some experts believe that standards are needed for the medical community and patients to gain confidence in genetic tests.

In April, the Genetics and Public Policy Center at Johns Hopkins University published a paper calling for more Food and Drug Administration oversight of tests and Federal Trade Commission enforcement to halt false or misleading advertising claims. Also, testing data should be made public so others can judge the tests' validity, it said.

"We have seen some cases where the science is outpaced by the claims," said Gail Javitt, law and director of the genetics and public-policy center.

"There are tests that have not been validated, and there is not clear federal oversight to ensure patients and health-care providers are protected."

The Arizona-based Partnership for Personalized Medicine, which includes scientists from TGen and Arizona State University's Biodesign Institute, is seeking to develop a protein-based test for lung cancer as part of a $200 million research project funded by the government of Luxembourg.

The initiative is headed by Leland Hartwell, the Nobel Prize winner who believes more accurate tests are the future of medicine.

Gartner, of Provista, said he doesn't oppose more regulation of the testing industry, but he said it also may drive costs higher.

"I don't have a problem with it (more regulation)," Gartner said. "It would be very hard for me to go to sleep at night if I didn't believe in the clinical data on our Bt Test."