FDA Panel Urges Caution on Genetic Test Kits

March 9, 2011 -- An FDA advisory panel has urged federal regulators to go slowly in allowing companies to sell genetic testing kits directly to consumers, amid worries that test results could be easily misinterpreted.

The panel recommended that the FDA require sign-off from medical professionals either for ordering most tests or for interpreting the results. That would mean that tests for many diseases or conditions -- and delivery of results -- would not be available without what amounts to a prescription.

The FDA doesn’t have to follow the recommendations of its advisory panels, but often does.

The vast majority of genetic tests are available only through doctors or genetic testing centers, while results are generally interpreted by doctors and a relatively new industry of genetic counselors.

But a cottage industry of direct-to-consumer testing companies sprang up in recent years. The industry recently caught the eye of regulators, who essentially warned several companies that their tests were not able to predict health conditions as reliably as advertised.

The FDA has since decided to more closely police the industry and is deciding what kinds of tests deserve closer control and which ones could still be available direct-to-consumer (DTC).

“A lot of us feel that these tests are not going to be safe enough to be in DTC,” says George Netto, MD, an associate professor and prostate cancer researcher at the Johns Hopkins University School of Medicine and a member of the panel.

Genetic Role in Disease

It is rare for a genetic mutation to cause a condition directly, as it does in Huntington’s disease. In most cases the link between mutations and disease depend on complex interactions between many mutations, environmental factors like diet, and interactions with other health conditions.

For example, several gene mutations are known to increase the risk for hypertension. But having the mutation does not necessarily lead to hypertension, and factors including exercise, smoking, fatty food, and stress also play important roles. At the same time, having hypertension is a risk factor for cardiovascular disease but is itself intertwined with other causes.

How can a consumer determine whether a positive test actually increases their risk of dying from a heart attack?

At the heart of the FDA’s dilemma is how to balance patients’ rights to information about their risks for disease with the need to have professionals involved in the interpretation of results that can cause consumers to worry or to seek out medical care.

“Medical students don’t understand it and practicing docs don’t understand it,” says David Rahsohoff, MD, an epidemiologist from Yale University and a member of the panel. “We certainly can’t expect consumers to do that.”

But companies warned that aggressive regulation would stifle patients’ ability to improve their health by dealing with known health risks. Just because the connections between many gene mutations and disease are poorly understood doesn’t mean patients should not have access to tests, says Mary K. Pendergast, a board member of the drug company AesRx.

We can’t live our lives where we can’t know anything until everything is known,” said Pendergast, a lawyer and industry consultant who served for seven years as FDA’s deputy commissioner.