Surge in genetic testing raises quality concerns

Hopkins center urges federal government to strengthen industry oversight


WASHINGTON -- As understanding of the human genome advances, genetic testing has become an increasingly popular - and lucrative - tool for diagnosing diseases. There are now more than 800 tests available, promising to assess everything from the risk of Down syndrome to susceptibility to breast cancer.

Yesterday, a Johns Hopkins University think tank called on the federal government to strengthen its industry oversight to ensure the quality of testing.

The request by the Genetics and Public Policy Center stems from concerns that expectant parents wanting to learn whether their baby would be susceptible to cystic fibrosis or a healthy adult looking for an early diagnosis of Huntington's disease might make life-changing decisions or receive the wrong treatment based on shoddy test results.

"How do you know that the lab doing your test is doing it the right way?" asked Gail H. Javitt, a policy analyst at the center. She argued that consumers can't know for sure because of a lack of regulation.

Industry groups counter that genetic testing is sufficiently covered by current rules governing clinical testing and that any dubious practices, if they are taking place, would be unusual.

The federal Centers for Medicare and Medicaid Services, which oversees testing laboratories, said it is drafting proposed rule changes, which it hopes to issue for public comment next year.

Virtually unheard of two decades ago, genetic testing has flourished as scientists have learned more about the genetic components of diseases. It is a rapidly growing segment of the diagnostic industry, expected to exceed $1 billion in revenues in two years, according to market consultant Frost & Sullivan.

The Pew Charitable Trusts funds the Genetics and Public Policy Center - part of Hopkins' Phoebe R. Berman Bioethics Institute - to prompt public debate about the policy implications of advances in genetics.

Javitt said that women have complained about the accuracy of gender tests on fetuses and that one Web site purports to test for an addiction gene that doesn't, in fact, exist, though she could not point to specific examples of inaccurate test results and harmful effects. Part of the difficulty, she said, is that the government does not have a central database for collecting reports.

The think tank called on the federal Medicare agency to add provisions specific to genetic testing to its rules governing clinical laboratories. Javitt said the changes are necessary because genetic testing uses some unique processes.

In 1995, a federal task force began reviewing oversight of the industry. But little has been done since publication of proposals in 2000 that would have created standards for genetic testing. Public comment on the proposals was divided.

Carolyn Jones, associate vice president of technology and regulatory affairs at the Advanced Medical Technology Association, said little more needs to be done because most genetic testing is already governed by current federal law and overseen by the Food and Drug Administration or the Centers for Medicare and Medicaid Services.

Jones said both federal agencies ensure the quality of testing on the market.

Officials at the American Clinical Laboratory Association, which represents 23 laboratory companies, said that their members obey strict ethical codes but that they would support "some tweaking" of the rules to guard against any faulty testing by nonmembers. They also would support specialized training for inspectors overseeing the labs.

But, generally, they said existing oversight works well. "So it would be foolish to move away from it," said David Mongillo, vice president of policy and medical affairs.

Judith Yost, director of laboratory services at the Medicare agency, said it had just received the Genetics and Public Policy Center's request for tightened oversight and had not had time to review it.

Yost said her office has delayed making changes in genetic testing rules because it was occupied with a higher-priority review of general testing regulations, but she said it intends to finish drafting proposals in the coming months.

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