FDA's Updated October 2015 Documents on 23andMe: Class II Without 510(k)

In February 2015, the FDA announced not only that it would allow 23andMe's DTC carrier screening tests to begin moving forward, but that recessive hereditary genetic tests could be:

• Categorized as Class II devices;
• Not require separate 510(k)s;
• Be offered direct to consumer.

Together, this was a remarkable constellation of decisions.  Links to documents from February to October 2015 are below the break.

(Documents cited below are also in one Zip file in the cloud, here.)

The FDA's February 19, 2015 letter to 23andMe is here.  This 10-page letter also constituted FDA's communication to the community on its extensive reasoning and decision-making for 23andMe testing.

A May 21, 2015 deck on the 23andMe decision, by Liz Mansfield of the FDA, is here.

The October 1, 2015, updated letter to 23andMe is here.

A redline that compares the FDA's February 19 and October 1 letters to 23andMe is here.  There are relatively few changes, but some are interesting.  The term "diagnostic" is converted to "detection" throughout.  There is more emphasis in October than in February on the sample collection system, interesting in light of FDA's recent mid October restrictions on the Theranos collection system.  A few redline screenshots are here.

Also dated October 1, the full FDA decision summary, a more technical document, is here.

Finally, on October 27, FDA issued federal regulatory notices for two related issues.

• New Category for Recessive Hereditary Tests. First, FDA creates a classification for hereditary recessive genetic testing systems to be codified at 21 CFR 866.5940.  80 Fed Reg 65626, October 27, 2015, here.  Note that this classification-creating regulation is extremely long - several pages long.  Most regulations creating a device classification are only a couple sentences long.
• This is a classification order - it is not subject to comment.

• Tests Exempt from even 510(k), due to public information postings.  Concurrently, the FDA stated that the new recessive hereditary device classification would be subject to extensive special controls, but NOT subject to 510(k) review.  80 Fed Reg 65774.  Here.   While the tests would be 510(k) exempt, in return, the FDA will require extensive validity documentation on the "manufacturer's" aka the lab's website.  FDA proposes that this detailed factual website information can be as effective a regulatory mechanism as 510(k) review, and notes the full information will be available to not only FDA staff but to the public. 
• The FDA discusses its view that the risk of false results in this type of genetic is very low, although the false negative results could be higher (since not all mutations may be known or screened for.)  The risk of both parents having simultaneous results even lower, and that there may be a risk of couples not getting married, or not having children, based on false results. 
• There is discussion of the FDA's historic positioning on hereditary diagnostic tests, including for inborn errors of metabolism, and the FDA notes that although it is also a recessive genetic disorder, cystic fibrosis carrier screening devices do not fall under the new non-510(k) system. 
• This is a proposal to provide a non 510K genomic test pathway to market: it is subject to 30 days public comment.  

Viewed in light of potential future laboratory developed test regulation by the FDA, the creation of this large category of DTC genomic tests under LDT settings without 510(k) review is interesting.

Science article on 23andMe - 10/2015 - here.