FDA halt of 23andMe test kit could stall progress in personal genomics

In what could be a critical blow to the DNA clinical direct-to-consumer (DTC) movement, the U.S. Food and Drug Administration is demanding that genetic testing company 23andMe immediately cease all marketing for its main DNA service until it receives marketing clearance from the agency.

In a letter posted on its website, the FDA claims that:

To date, 23andMe has failed to provide adequate information to support a determination that (the company’s Personal Genome Service, or PGS) is substantially equivalent to a legally marketed predicate for any of the uses for which you are marketing it…even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions.

Several years ago, as DTC genetic tests began gaining popularity, the FDA decided to regulate them under the rationale that they considered these tests to be “medical devices.” In a 2011 article, GLP Executive Director Jon Entine wrote, “The issue is not whether the FDA intends to regulate DTC genetic tests—that ship has sailed. Currently, DTC tests are regulated under laboratory guidelines known as CLIA, which have allowed for innovation but do not oversee how companies present that information to consumers. Existing Federal Trade Commission regulations already prohibit unscrupulous companies from exploiting innocent consumers. Everyone recognizes closer oversight of claims and terminology is also necessary. But there is contentious debate over what form future rules should take.”

The FDA’s recent action has reenergized the debate over the role of regulation in the ever-expanding marketplace of personalized genome testing services, raising ethical and legal questions about how to regulate genetic information. Over the past few years, the cost of genetic screening has dropped dramatically. Whole genome sequencing can now be done for only a few thousands dollars, making a variety of genetic screening services accessible to millions of consumers at reasonable prices. But critics say controls are lacking and DNA information provided by DTC companies can be misleading or clinically wrong.


23andMe, which has established itself over the past five years as a serious player in the personal genomics field, is perhaps the best known of the genetic screening companies. The company offers ancestral screening as well as screening for more than 200+ diseases through the mail. Their $99 “Personal Genome Service,” which has been used by about half a million people, informs consumers about their genetic predisposition to certain diseases.

The company responded to the FDA letter in a statement to TechCrunch saying, “We recognize that we have not met the FDA’s expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns.”

23andMe’s database of 400,000 total individuals is considered a treasure trove of info for genetic researchers. It regularly updates customers on research findings pertinent to test results, pursues suggestions for new tests from the customers (such as sexual orientation) and publishes articles with participants in open access journals.

The FDA’s move could jeopardize the progress made by 23andMe and similar companies to offer consumers access to new information about their health. On a blog post following the announcement by the FDA, science writer David Dobbs wrote, “[T]his is a bone-headed move hostile to public health,” citing the FDA’s decision to classify DTC genetic tests as medical devices unnecessary governmental regulation that is likely to limit innovation. “If this move is just a push to get 23andMe to account for or strengthen its methodology, I’m for it, and will eat some of my words below. If it’s a move—one that many have feared—to lock up evidence-based direct-to-consumer genetic testing, then my objections stand.”


Many other scientists and journalists agree. According to science writer Ronald Bailey at Reason, “The FDA bureaucrats think that they know better than you how to handle your genetic information. This is outrageous.” That sentiment was echoed by journalist Timothy Lee, who writes, “If the PGS is inaccurate, or if 23andMe makes misleading claims about its capabilities, that would be legitimate grounds for regulation. But the FDA seems to be making a stronger, and much more dubious, claim: that even an accurate genetic test is dangerous because its results could be misinterpreted by patients.”

But not everyone agrees that the FDA’s action is a bad thing. Journalist Christine Gorman argues that the FDA was right to block 23andMe’s testing services, writing that the debate speaks to the battle between those who believe in the freedom of companies to innovate on behalf of consumers by using new technologies versus those who believe in precautionary regulation. “Using home gene kits to imagine where your ancestors might hail from is one thing,” she writes. “That’s basically the 21st century equivalent of looking up your horoscope—entertaining but not really a matter of life and death. Cheap sequence data from 23andMe and other gene testing companies has much greater potential to harm without the proper interpretation of the results, which is still quite difficult and expensive in most cases.”

To be sure, efforts by the FDA and other regulatory bodies to demand that personalized genomics companies, such as 23andMe, strengthen their methodology will ultimately benefit consumers, who will have access to more reliable test results. However, many, including Dobbs, fear that the panicked move from the FDA is aimed at preventing evidence-based direct-to-consumer genetic testing from democratizing healthcare.

Science writer Razib Khan, in Slate, argues that the FDA’s move is a misguided one that will hurt the progress of personalized genomics companies:


 23andMe is just part of a broader movement toward the democratization of health information…Genotyping whole genome sequencing services are soon going to be as ubiquitous as white bread. The likelihood that the FDA would ban you from reading your raw results seems low. Rather, their concern is when a firm like 23andMe interprets those results.

Khan believes the FDA action likely won’t seriously impact consumers in the long run. While 23andMe may be a casualty of this battle, other personalized genomic companies are likely to spring up in its place to fill the demand of consumers who clearly want convenient access to more information about their health, as evidenced by 23andMe’s sales of its DNA kit.

Because the letter was just posted Monday morning, this story is still rapidly evolving, so it’s anyone’s guess as to how this will turn out for 23andMe. But what is clear is that consumers have shown that they want access to information about their genome. As this story continues to play out, it will be interesting to see how 23andMe handles the FDA regulation, as the future of DTC genetic testing likely hangs in the balance.

This is the first part of a two-part series. Part two, which will be published tomorrow, will focus on how and why talks between 23andMe and the FDA broke down and what implications this will have for the DNA clinical direct-to-consumer movement going forward. To read the second part, click here.

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