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Genetic testing dilemma

April Hauge, a nurse practitioner in Weimar, California, spent $500 on a genetic test for her autistic son in 2009 that led to purchasing thousands of dollars in vitamins and supplements. Impressed with the results, she's now selling advice on the approach to others.

There's just one problem: the DNA tests and related treatments have scant backing from science and US government officials. They're untested, unproven, and may constitute "health fraud," doctors, regulators and concerned parents said.

For alternative-medicine providers in general, the genetic tests are nothing but a "marketing tool" to sell unproven treatments, said James Laidler, a retired physician and adjunct professor at Portland State University whose 19-year-old autistic son has tried alternative therapies.

"You always hear the testimonials from the people who got better, not the people who stayed the same or got worse," Laidler said. "They don't want to hear somebody saying this is snake oil."

Doctors and clinics across the United States are using the exploding science of DNA testing to feed anxieties and sell hope to people with autism and other hard-to-treat disorders.

Emboldened by meager state and federal regulation, purveyors of alternative medicine offer genetic tests costing hundreds of dollars to worried parents and patients, and then sell advice on supplements and diet based on results purporting to spot disease-causing deficiencies. They claim to be the panacea for everything from autism to chronic fatigue syndrome to the effects of aging.

"A lot of this skims on the edge of health fraud," said Janet Woodcock, director of the Center for Drug Evaluation and Research at the Food and Drug Administration, referring to the use of DNA testing to recommend alternative therapies.

Patients and practitioners say the tests and treatments are beneficial. The medical establishment has yet to catch on to the importance of common gene mutations, said Ben Lynch, a licensed naturopathic physician in Seattle and owner of a nearby supplement company.

Lynch's website focuses on a gene called MTHFR, and says that mutations in the gene are "a highly significant public health problem that is completely ignored."

"It takes a long time for standard medicine to learn about these things," he said. Those who dismiss the gene variants as unimportant "are totally wrong."

Lynch says his focus is on diet and lifestyle changes first, before supplements.

"I agree with some of these critics who say that if doctors are using genetic tests to sell lots of supplements, that is not ethical," Lynch said.

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Mapping the genome is becoming a standard tool of medical care with new and cheaper DNA sequencing machines helping doctors unravel inherited diseases that once took years to diagnose. By searching for mutated genes in tumors, doctors can sometimes target them with special drugs that counteract the effect of rogue genes.

Researchers once hoped that common genetic variants would help predict the likelihood of major diseases like autism. Understanding the genetic component of autism has proven to be anything but simple. While scientists have documented thousands of statistical associations between genetic variants and diseases, definitive links haven't been confirmed in most cases.

After saying for about a decade that it has the power to regulate genetic testing, the FDA has yet to exercise its authority for most DNA diagnostics. While the US Centers for Medicare and Medicaid Services regulates testing labs, it doesn't ensure that the tests are medically significant, or that doctors use them appropriately.

Alberto Gutierrez, director of the office of in vitro diagnostics and radiological health at the FDA, said the agency is "very concerned" about complex genetic tests being sold by laboratories, often over the Internet, whose claims are difficult to evaluate. Often, it may be difficult to even know who did the testing, he said.

"Nobody has looked at the evidence to support these tests," said Gutierrez, who wouldn't comment on specific genetic tests or test providers. "I am concerned that patients are being given unproven information that may result in less than optimal management of their disease."

Following public hearings in July 2010, the agency developed guidance for regulating complex genetic and other tests sold by laboratories. The rules have been under review by the Obama administration since late 2011, he said. Until they are finalised, the agency is "somewhat hamstrung" in cracking down on companies that sell the tests, Gutierrez said.

Testing laboratories facing potential new regulation "are concerned about the impact of what the FDA may do," he said.

In the meantime, patients and doctors "should proceed with caution" as some of the tests have not been well validated, Gutierrez said.

-Washington Post

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