23andMe has just cleared a major hurdle in what looks like its comeback to provide genetics-based health information directly to consumers, a service banned by federal regulators a year and a half ago.
The U.S. Food and Drug Administration said Thursday it will allow 23andMe to tell consumers about their genetic risk for a rare disease called Bloom syndrome. The test, which analyzes consumers' spit, will determine whether a healthy person has a gene variant that could result in their offspring inheriting the disease.
The even bigger triumph for direct-to-consumer genetic testing in general is the FDA's plan to ease up on regulating all "autosomal recessive carrier screening tests" — tests performed on people who display no symptoms for a genetic disorder, but who may be at risk for passing it on to their children.
The developments are a significant victory for the Mountain View company, which has been collecting and analyzing consumers' tubes of spit since 2007, building a database of nearly 1 million samples.
On Nov. 22, 2013, the FDA told the startup to stop providing interpretations of health risks to people, citing concerns that the results were inaccurate or could be misconstrued since they are presented directly online instead of through medical professionals.
"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," Alberto Gutierrez, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, said in a statement. "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. 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 tests in question are meant to detect situations where a carrier has inherited one normal and one abnormal allele for a gene associated with such a disorder; and a child with the disorder inherits two abnormal alleles — one copy from each parent. Instead of reviewing such tests before they hit the market, the FDA intends to refrain from doing so, a plan that will be open to public comment.
The move will likely open the way for 23andMe to submit more tests for such conditions. It will also certainly be controversial due to the long-held concerns about accuracy.
Acknowledging that "no test is perfect," the FDA said that these specific carrier screening tests are typically are only performed for prospective parents with a family history of a genetic disorder, not patients at large.
The FDA will require that companies explain results in "a way that consumers can understand and use," including specialized advice for prospective parents interested in seeing if they carry a genetic disorder. If the tests are sold over the counter, the FDA will also require that 23andMe tell consumers how to access a board-certified clinical molecular geneticist, or an equivalent professional, to help with pre- and post-test counseling. The test is intended only for postnatal carrier screening in adults of reproductive age.
In June, 23andMe submitted its request for the Bloom syndrome test, an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems. The FDA's decision was based on two separate studies — one with a total of 123 samples, and another with 105 samples.
There was also a study with 295 people to see if people unfamiliar with 23andMe's mail-home "spit kits" could understand the test instructions. Yet another study of 302 randomly recruited participants demonstrated to the FDA that the test instructions and results were easy to follow and understand.
23andMe declined to comment.