Once upon a time, there was a direct-to-consumer (DTC) genomics company in California that kept running afoul of the FDA. They got an untitled letter. Then they got a warning letter. And they quite often caught the unwanted attention of Myraqa bloggers (including your's truly). But then something truly remarkable happened...they became the belle of the regulatory ball. And while it's too early to tell if they will live happily ever after, the prince is really close to their house, with that glass slipper in hand.
The company of course is 23andMe, who once again today got everyone's attention with yet another rather groundbreaking regulatory clearance. I add the 'rather' qualifier as the clearance is just for 0.3% of the known BRCA mutations, and excludes any potential treatment or diagnosis intended uses. It is strictly a risk factor test for a narrow subset of the general population, specifically those of Ashkenazi (Eastern European) Jewish descent.
Nonetheless, it's an important announcement, as once again the FDA continues to redraw the lines between DTC Genetic Health Risk tests and what was once the exclusive purview traditional prescription use only diagnostic tests. Although narrow in scope, this test hits three big cancers areas - breast, ovarian and prostrate. And even given the fact that cancer prognostic tests have been around for a while, the idea that the FDA is 1) clearing 23andMe's BRCA test as DTC offering and 2) not requiring a previous cancer diagnosis just to order the test is pretty amazing.
But the real fairy tale story here is 23andMe. You'll recall that just a few short years ago they were publicly defiant of FDA's ability to regulate their tests. Their stance - coupled with some massive regulatory blunders by a few of their peers in the DTC genomics industry - led to a round of untitled letters (which FDA promptly made public), and ultimately Congressional hearings on the subject. Eventually 23andMe would find themselves on the receiving end of one of the most tersely written FDA warning letters in recent history.
But man does that pumpkin look good now! 23andMe got the warning letter off their backs by working with the agency to move the regulation of DTC forward. They've managed to get FDA to make whole blocks of inheritable diseases exempt from pre-market submissions, and they now are moving smartly into the realm of identifying risk factors for high profile diseases like cancer and Alzheimers.
Whether all of these regulatory wins will bring 23andMe the fairy tale ending is still unfolding. But there's no more fascinating story than this one right now. It is a story worth telling to anyone debating the merits of going to the FDA with their novel test at this moment in time. They might just find that the shoe fits perfectly.