Scientific Method / Science & Exploration

FDA wants safety, accuracy data on consumer genetic tests

The FDA has sent letters to all the major players in the direct-to-consumer …

The recent mixup that resulted in the genomic testing company 23andMe sending test results to the wrong people may end up being the least of its worries. Today, the US Food and Drug Administration sent a series of letters to other direct-to-consumer (DTC) genetic testing companies, saying their products qualified as devices under FDA rules, and therefore required premarket approval. Regulatory approval may significantly raise the costs for the companies already on the market, and dissuade others from entering it.

DTC genetic tests are a relatively new market and, so far, the FDA has chosen to sit on the sidelines as companies have taken advantage of rapidly advancing DNA technology to offer the public ever more sophisticated tests. That doesn't mean the FDA isn't paying attention—it has clearly been engaged in meetings with some of the companies it has now sent letters to—but it hadn't previously come to the conclusion that the DTC tests were sufficiently health focused that they needed to have their performance and safety validated.

A series of events that occurred earlier this spring may have left the FDA staff with the impression that it had to act. The first was the announcement by a new entry into the market, Pathway Genomics, that it would be selling DTC kits in major pharmacy retailer Walgreens. The plan was quickly put on hold, but it prompted a response from the FDA. Pathway Genomics has apparently since decided to change its business model, and get out of the DTC market altogether.

But the issues cited in the FDA letter to Pathway—promises of tests for various health conditions and drug interactions—apply equally to several of the other service providers that have received letters. The FDA's letter to Knome, for example, indicates that its product will track "the genetic basis of specific traits or conditions, and map the known gene-to-disease associations onto your personal DNA sequence." Another FDA target, Navigenics, has product literature that makes very explicit health claims: "Our genetic analysis services uncover your genetic predispositions for important health conditions and medication sensitivities, and provide resources to help you and your doctor understand your genetic information as you develop personalized health strategies."

The other DTC companies targeted in this round of letters include 23andMe, which offers kits via Amazon, and deCode Genetics, a company that's currently in the process of splitting up while under bankruptcy protection.

The DTC companies have a very careful balancing act, one that's becoming essentially impossible to manage. It's possible to advertise their services as strictly for entertainment or information content. Many of the companies, for example, advertise heredity tests. However, the same genetic markers that are often associated with specific ethnic origins may also be associated with clinically relevant variations—many variants associated with genetic diseases, for example, are far more common in some ethnic groups. So, providing any sort of fine-grained ancestry test will often end up providing medical information.

That said, it's pretty obvious that the DTC companies were promoting the ability of their services to offer information relevant to human health to one degree or another. And, just as obviously, most of the people who paid for them were looking to get that information. The FDA's action is as much about recognizing that reality as anything else.

The real surprise here is the letter to Illumina, a company that provides hardware and kits for DNA sequencing and identification of genetic variants. It isn't going DTC, but it is supplying its kits to the DTC companies at the same time they're being labelled as for research use only. In essence, the FDA is informing Illumina that everybody knows what it's doing (which is logically equivalent to how it's approaching the possible health claims of the DTC companies).

The FDA's document on premarket approval of devices is pretty vague, but some of the boilerplate that appears in all of the letters provides more detail of what the agency may be looking for. "This premarket review of medical devices enables FDA to protect the public from medical products that may pose an unreasonable risk of harm," the letters state. "It is important that they be analytically and clinically accurate so that individuals are not misled by incorrect test results or unsupported clinical interpretations."

Given the rapid advances in genetic information, the documents actually suggest a very difficult standard. Every month, there are a gaggle of Genome Wide Association Studies published that influence what we might consider the accuracy of genetic tests. Unless the FDA process also specifies flexible standards for accuracy, the action could have a chilling effect on the emerging market for DTC genetic testing. (Whether that's a good thing or not is a separate debate.)

Regardless of the standards that ultimately arise, this action could put the existing companies on hold while they sort out regulatory approval, and may significantly alter the pricing of their tests. It's also likely to stop anyone else from entering the market in the meantime.

Listing image by Svilen Mushkatov

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