Where do we go from here?
Ok, so FDA does intend to assert regulatory authority here, which its thinks 23andMe has been flouting. Any other takeaways?
That’s hard to tell. We’ve all been waiting . . . and waiting . . . and waiting . . . for long-promised draft FDA guidance on regulating LDT’s, “laboratory developed tests.” These include, but are not limited to, genetic tests and have been expected to include considerations of clinical validity. Rumor has it that the FDA thought they were done in mid 2012. “After the election,” the word was. That guidance is still stuck somewhere in the Administration.
FDA had promised a risk-based regulatory scheme, but we don’t know what it is. We do know from its letter that it is worried that 23andMe’s tests have not been validated yet, neither analytically (do they accurately detect the single nucleotide polymorphisms they say they detect?) nor clinically (do those SNPs mean what 23andMe says they mean?).
Presumably any long-term FDA strategy for dealing with LDTs, including LDT genetic tests will focus on analytical and clinical validation.
Does this letter tell us anything about the FDA’s position on direct to consumer testing?
That’s not really clear. The letter mentions the fear that direct-to-consumer patients may self-manage in harmful ways, but it isn’t clear how much turns on that. It is the case that, at least under current FDA practice, this would not be an issue if 23andMe were not a direct to consumer company.
The FDA has not regulated so-called “laboratory developed tests” (LDTs), performed from scratch by clinical laboratories. 23andMe has a clinical laboratory, but the saliva is not being collected by a doctor with their own equipment in an office, but by a tube 23andMe sends out. FDA regulates diagnostic tests when sold as kits — to consumers, to doctors, or to clinical labs — but not when done directly by the labs based on samples collected by others and sent to them.
How about genetic testing in general?
Finally, in the long run (which in this field is about 12 months right now), what does this say about genetic testing and the FDA? In one sense, almost nothing. The SNP chip method that 23andMe uses was never very good at providing useful genetic information. Its advantage has been its low cost. But as sequencing gets cheaper and cheaper, SNP chips have already largely become obsolete for most genetic testing. Don’t look only for SNPs, do a whole exome (the 2 percent or so of the genome that “codes” for protein) sequence for under $1000 or a whole genome sequence for under $5000 (today – under $1000 soon).
In other, probably much more important news, on November 20, two days before its action against 23andMe, FDA just approved as a medical device a next generation sequencing platform from Illumina, two cystic fibrosis tests for that platform, and a kit that allows doctors to come up with other tests for the platform. Here. As Francis Collins, director of NIH (and one of the discoverers of CFTR1, the “cystic fibrosis gene,” and Margaret Hamburg, commissioner of the FDA, said in an article in last week’s New England Journal of Medicine, here, this “opens the door for the transformation of research, clinical care, and patient engagement.”
SNP chips will soon be a thing of the past
That is the future. The direct to consumer SNP chip era is ending. 23andMe’s two main competitors, Navigenics and deCODEme, already left the market. 23andMe’s SNP chips are slipping rapidly into the past. I would argue that the company knows it. Earlier this year it offered, for $999, a “pilot” of whole exome sequencing.
If the firm survives, it will surely be by offering whole exome and whole genome sequencing. And, I hope, doing so after analytic and clinical validation that convinces the FDA that its methods are safe and effective. Because tests of unknown accuracy are no better than no tests at all. I applaud the FDA for taking seriously its mandate to protect public health.
Hank Greely is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University.
He specializes in ethical, legal, and social issues arising from advances in the biosciences, particularly from genetics, neuroscience, and human stem cell research. He directs the Stanford Center for Law and the Biosciences, chairs the California Advisory Committee on Human Stem Cell Research, and serves on the Neuroscience Forum of the Institute of Medicine. From 2007 to 2010 he was a co-director of the Law and Neuroscience Project. In 2006, he was elected a fellow of the American Association for Advancement of Science.