When's a Gene Test Not a Gene Test?

Genetic-testing company Navigenics has responded to the state of California's cease-and-desist letter with a novel defense: It doesn't actually test patients' genomes, it just analyzes 'em.

In a letter sent to the Health Department obtained by Wired.com, the company argues that it does not actually perform genetic tests, and therefore should not be regulated as a clinical laboratory under California state law.

Instead, Navigenics argues it merely applies algorithms to DNA data it receives from tests performed by a third-party, a licensed laboratory.

As we noted Monday, this regulatory battle hinges on the definition of a clinical laboratory test.

"Nothing in the definition of a clinical laboratory test supports a conclusion that the interpretation of the data resulting from such a test is itself a test," Navigenics wrote in its response.

Though abstruse, these definitions could shape the long-term future of genetic testing. The arguments boil down to whether or not the information contained in your DNA should be treated like blood or like data.

Navigenics is arguing that once the state-licensed lab turns a biological sample into digital data, DNA is no longer within the purview of health department laboratory regulation. Navigenics is just an information service, combining scientifically-published genetic disease correlation data with personal genotype data.

Whether or not the health department (or eventually the courts) will buy this argument remains to be seen. The state is reviewing responses from the thirteen companies it served with cease-and-desist letters.

According to Navigenics, it contracts the actual biological work to a Federally-certified and California-licensed lab run by Affymetrix, so it never touches the spit-containing DNA that forms the basis of genetic testing. What Navigenics receives from Affymetrix is merely digital data about a person's genetic variations.

In that way, it argues, the company merely interprets clinical lab tests, much like a physician would, and physicians are not regulated as clinical labs.

The state, on the other hand, holds that because Navigenics obtains the biological data, it is essentially doing the test.

Navigenics' also proposes a second line of defense relating to the necessity of including a physician in ordering a genetic test.

Navigenics has argued all along that it has a California physician who actually orders and receives the tests, but it is not clear whether any physician can order a test, or whether it had to be "your doctor" (whatever that means in today's health care system).

The letter to the health department makes a strong argument that Navigenics' on-staff doctor can order a test even if the test is initiated by a consumer. It quotes from a 2003 communication between the health department and Quest Diagnostics, in which the agency recognizes the difference between ordering a prescription drug and a clinical test.

"Until and unless the law is changed, it would appear that any licensed physician in California may order laboratory tests on persons of whom they have no knowledge," the health department wrote.

With these two trenches dug, Navigenics also extended an olive branch to the health department in the form of a three-page letter from the company's CEO Mari Baker.

"I look forward to the opportunity to meet with you and your team as soon as possible, and preferably within the next two weeks, to fully brief you on our company's approach and operational practices," Baker wrote.

The genetic testing industry, led by Navigenics and 23andMe, are eager to come up with a regulatory framework that would allow their businesses to run smoothly and get the health department out of their hair, said Rick Weiss, a senior fellow at the Center for American Progress.

"The companies' responses have been quite cordial. It's been, 'OK, let's talk,'" Weiss said. "They clearly want to hammer out a system that will allow this industry to grow."

Still, both companies have told the state of California that they plan to remain in business without substantive changes to the business practices that earned them sent cease-and-desist letters in the first place.

Weiss sees that as a sign that the two sides need to acknowledge that genetic testing is something new that falls outside the existing regulatory paradigm.

"[Genetic testing companies] are offering something new that doesn't fit into the landscape of clinical laboratory regulation," he said. "There needs to be some sort of dialogue between regulators and the industry."

by Alexis Madrigal for Wired.com

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