FDA recently told five companies that  it considers their personal genome services unapproved medical devices and that the companies should have submitted their tests to FDA before offering them for sale to the public. According to FDA, these tests constitute medical devices because they are “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment or prevention of disease” or are “intended to affect the structure or function of the body.” FDA’s concern has grown as the tests have evolved to include broader reaching medical-related claims. The five companies—23andMe, Navigenics, deCODE Genetics, Knome, and Illumnia—must now rethink their strategies for either defending their current approach or embracing a new regulatory landscape going forward. And, even among those companies that received letters from FDA, there are two schools of thought as to whether this will be good or bad for the genetic testing industry or consumers. 

One perspective is that this is the next logical phase for such tests. Kari Steffansson, MD, president and CEO of deCODE Genetics (Reykjavík, Iceland), says, “This was appropriate and timely.” He says that regulating these tests is in fact “the right thing to do.” Moreover, he says he does not see it as a setback for the industry.
But even among genetic tests manufacturers, there is disagreement. Genetic test maker 23andme (Mountain View, CA) says, “It is important to note that we disagree with FDA’s conclusion. Regardless, we have always been open to discussions to formulate a rational way to regulate the personal genetics industry, and we look forward to continuing those discussions with FDA. We believe any government regulation should have an appropriate framework that does not stifle scientific ­innovation.”

By contrast, Steffansson’s perspective is that such regulation will bring more credibility to the genetic test industry. “From the get-go, we’ve met the highest of standards. To a certain extent, if a test is FDA approved, it has more credibility than if it is not. This is one way for this field to receive the respectability that it deserves. So I welcome this.”

So, is it a question of science versus safety? Steffansson says no. “I think this is good for us. This is good for the consumer. FDA is just doing the responsible thing.” He points to his company’s CLIA-certified laboratories and notes that the company has “extraordinarily high quality control.” Steffansson says that deCODE has “an enormous track record in discovery of genes,” and that “no matter what standard FDA is going to hold people to, we are going to meet that standard.”
Both companies put the consumer at the forefront of their strategies. ­Steffansson says, “It is very important that the consumer get some sort of protection, that the quality of the test is high, that quality control where the test is performed is high, and that there are no claims made that cannot be backed up.”

Regarding its approach to such tests, 23andMe says that it carefully explains to its customers that its data are informational and educational in nature. “We also caution our customers that, if they want to use the data and information they learn about their own genetic makeup for medical decision-making, they do so in consultation with a physician or other appropriate healthcare professional.”

But Steffansson, a former professor of neurology at Harvard, is looking at the bigger picture in terms of scientific discovery and innovation. “Not a single discovery has been made ever by gathering data through tests that are sold directly to consumers,” he says. “There are those who aspire to make discoveries by using such data, but no discovery has yet to be made that way. I actually question the wisdom of using cell reported phenotypes through direct consumer tests to make discoveries.”

Perhaps this is a step forward and not a step back. Steffansson says, “I do not consider it a setback when it comes to scientific discovery.” He added optimistically that he believes increased FDA oversight will actually put “some bubbles in the dream box.”