Laboratory-developed tests for an array of patient outcomes – from response to cancer treatments to predisposition to cardiovascular disease – should be regulated closely by the Food and Drug Administration, according to Congressional testimony on Tuesday.

“As our knowledge of the genetic underpinnings of cardiovascular disease expands, we anticipate there will be many opportunities to use genetic tests to predict or preempt disease, and to treat it more effectively. However, it is imperative these tests are scientifically credible,” said Dr. Christopher Newton-Cheh, a cardiologist who specializes in heart failure and transplant and American Heart Association volunteer.

“It is clear that some genetic tests lack scientific credibility,” said Newton-Cheh, a cardiologist at Massachusetts General Hospital and assistant professor at Harvard Medical School. “Allowing these tests to continue to be marketed without rigorous oversight increases the risk of undermining public and health care provider confidence in the utility of employing genetic tools to improve health care.”

Laboratory developed tests, or LDTs, have proliferated in the last decade, moving from simple genetic tests for rare diseases to powerful, complex diagnostic tools for cancer, diabetes and cardiovascular diseases.

There also has been a proliferation ofdirect-to-consumer marketing of tests.

Until now, the FDA has regulated tests sold by manufacturers as testing kits, but in large part has relied on “enforcement discretion” when it came to labs-created tests. So that has meant, in general, that tests performed in labs have been marketed without the need for FDA clearance or approval. They could also compete with FDA-approved tests without clinical studies to support their use.

A program called Clinical Laboratory Improvement Amendments — run by the Centers for Medicare and Medicaid Services — oversees laboratory testing. But this program does not assess whether the tests are valid and necessary. It also does not require labs to report on problems.

The three-hour hearing before the House Energy and Commerce Subcommittee on Health is the latest stage of a policy discussion that began more than a decade ago.

The FDA announced at the end of July it would issue a guidance document on how it plans to enforce regulations on the laboratory test market. The FDA has to wait at least 60 days from that announcement to issue the guidance, and then plans to open up a public comment period.  The agency said it plans to phase in its authority in stages, with tests that pose the highest risk to patients first.

Critics of any new FDA guidance say it could hinder innovation in new cutting-edge tests and question whether the FDA has both the jurisdiction and the resources to handle new oversight.

Dr. Jeffrey Shuren, the FDA’s director of the Center for Devices and Radiological Health, said Tuesday this is “starting a dialogue,” and that he hopes to strike a balance between innovation, validity, safety and effectiveness. But he said the regulations aren’t a sudden change.

“This isn’t new,” Shuren said. “We’ve been talking about enforcing these requirements since the 1990s. … The question should be ‘FDA, what the heck took you so long?’.”

The American Heart Association believes that all genetic tests, including LDTs, should be required to undergo independent review to confirm their analytic and clinical validity and that this information should be made available to healthcare professionals and the public at large.

“Advanced diagnostics hold tremendous promise for patients, but the increasingly pivotal role of these diagnostics in patient care makes it imperative that their safety and effectiveness is assured by the FDA prior to use,” Newton-Cheh said in his testimony. “The FDA standards are intended to reassure patients and providers on the reliability and usefulness of diagnostic tests and set clear parameters for developers of new tests.”


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Photos by Courtney Doby and Marko Mijic