More than a year after the Food and Drug Administration barred 23andMe from marketing a broad-based genetic testing service, it looks like the FDA plans to shift gears and allow such tests to be sold directly to consumers.
The announcement came in a release late Thursday from the regulator that said it's authorizing 23andMe to market a specific test to consumers for Bloom Syndrome, a rare inherited disorder associated with short stature and various cancers that often result in death by the mid-20s. The genetic testing company had submitted the test for FDA approval last June.
But the agency then proceeded to lay out broader plans for reversing its stance on direct-to-consumer tests to screen for genetic carriers of diseases. Until now, the FDA had treated such tests as medical devices, which required a much longer and more rigorous approval process for each disease test. Now, the agency says it's willing to allow these tests to be sold without specific FDA approval. The move is specifically for autosomal recessive diseases that a person who may display no symptoms of the disorder could pass along to offspring.
It's not yet clear how sweeping the FDA's move is, and it may not happen all that soon. It still needs to come out with a specific notice of what it intends to require, which will be followed by a 30-day public comment period and then implementation. In a blog post, CEO Anne Wojcicki called the Bloom Syndrome test approval "an important first step [her emphasis] in fulfilling our commitment to return genetic health reports to consumers in the US."
She also told
Still, it's not yet clear that 23andMe can sell its genetic tests for as wide a variety of diseases all at once as it once did, according to FDA press officer Jennifer Dooren, reached late tonight. The Mountain View-based company, funded partly by
That's what caused the FDA to crack down with a scathing warning letter in 2013 demanding that the company stop marketing its Personal Genome Service. The $99 service gathered people’s DNA-laden saliva in "spit kits," ran it through a gene chip from Illumina, and sent back both ancestry information and more than 200 health reports. The latter indicated one’s risk of getting or carrying the gene mutation for a disease such as cystic fibrosis or breast cancer or their response to drug therapies.
Dooren said 23andMe likely would not be allowed to resume providing risks of breast cancer and other diseases all at once. "It doesn't open it up to the broader test," Dooren said of the announcement. "It's not opening up the floodgates."
It is, however, a clear sign that the FDA has decided that with proper procedures and information, consumers should be able to buy the tests at least for specific diseases without having to go to a doctor or genetic testing service at much greater cost. From the release:
“The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today’s authorization and accompanying classification, along with FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers,” said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health. “These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children.”
The FDA provided several requirements for the tests to be sold over-the-counter:
Like other home-use tests for medical purposes, the FDA requires the results to be conveyed in a way that consumers can understand and use. This is the same approach the FDA has taken with other over-the-counter consumer products such as pregnancy, cholesterol and HIV tests for home use.
While the FDA is not limiting who should or should not use these tests, it is requiring that the company explain to the consumer in the product labeling what the results might mean for prospective parents interested in seeing if they carry a genetic disorder.
If sold over the counter, the FDA is also requiring 23andMe to provide information to consumers about how to obtain access to a board-certified clinical molecular geneticist or equivalent to assist in pre- and post-test counseling.
It also laid out how 23andMe got approval for the Bloom Syndrome test, providing a regulatory framework for the way a genetic testing company needs to do to sell these tests directly to consumers (and 23andMe itself provided more detail on its work in its press release):
23andMe performed two separate studies to demonstrate that their test is accurate in detecting Bloom syndrome carrier status. One study conducted at two laboratories tested a total of 123 samples, including samples from known carriers of the disease. An additional study evaluated 105 samples at two additional laboratories. Both studies showed equivalent results in detecting carrier status of Bloom syndrome when the same samples were tested.
The company also conducted a usability study with 295 people not familiar with the 23andMe saliva collection device to demonstrate consumers could understand the test instructions and collect an adequate saliva sample.
Finally, the company conducted a user study of 302 randomly recruited participants representing the U.S. general population in age, gender, race and education level to show the test instructions and results were easy to follow and understand.
Despite the uncertainties, this looks like a big win for 23andMe and for consumer access to low-cost genetic tests.
