At a two-day workshop held here last week to discuss regulatory standards for next-generation sequencing tests, industry stakeholders, academicians, and researchers considered whether a prescriptive framework or more general guidelines are needed to establish the analytical validity of such tests, and how curated databases might be used to gather information on the clinical validity of the assessed markers.

The US Food and Drug Administration has been gathering public input on how best to regulate NGS, since the agency's traditional regulatory framework isn't equipped to quickly oversee the technical complexity and wide range of markers gauged by such tests. Based on discussions at an earlier FDA workshop this year, the agency began mulling analytical validity standards for NGS, and following its clearance in 2013 of Illumina's MiSeqDx NGS platform for cystic fibrosis using Johns Hopkins University's CFTR2 database, it seemed open to considering how labs might use similarly well characterized variant repositories to demonstrate clinical validity.

Although the workshops didn't yield any specific regulatory policies, the discussions kept returning to certain themes, such as data sharing, transparency, and public communication of test limitations. These issues have likely been percolating among industry stakeholders amid the recent criticism Theranos has faced for not publishing evidence underlying its blood tests.