Two FDA Workshops Focus on Precision Medicine Issues

Earlier this year, panelists at an FDA workshop on next-generation sequencing standards advised the FDA that it should involve multiple stakeholders in crafting any standards and pressed for flexibility in the standards to accommodate the rapidly developing nature of the technology. (See NIR, Mar. 9, 2015, p. 1) Building on the discussions started at that February 2015 workshop, the FDA has announced two workshops it will be holding this fall regarding next-generation sequencing standards and use of databases to establish clinical relevance of genetic variants.

The first workshop, to be held November 12, will focus on potential analytical standards for next generation sequencing based in vitro diagnostic tests, including laboratory developed tests. The FDA seeks "sufficiently flexible assay performance standards that can accommodate innovation, including test modifications, while assuring NGS test safety and effectiveness." The workshop will focus on regulatory strategies for assessing analytical validity of NGS tests that yield information about variations in the human genome. The FDA promises a white paper in advance of the workshop that will cover its "current thinking for a standards-based approach to analytical performance evaluation of NGS diagnostic tests."

A second workshop will be held the next day, November 13, addressing use of databases to establish clinical relevance of human genetic variants. Curated databases have been highlighted as potential means for demonstrating clinical relevance of genetic testing.

At the February workshop, attendees were asked to comment on the use of "highly curated genetic databases that provide information on genetic variants and their association with disease." Several attendees supported the use of shared databases, with some suggesting participation in publicly shared databases should be mandatory.

The November workshop will focus on development, operation and curation, and use of databases of genetic variants. A discussion paper to be released prior to the workshop will address possible uses for such databases and the issues to be addressed at the workshop. For both workshops, attendees must register for in person or webcast attendance by October 30, requests to make public comment must be made by Oct. 26, and written comments on the issues can be submitted until Nov. 25, 2015. Registration, agendas and other information for both workshops can be found on the FDA's website.

Takeaway: The FDA continues to seek public input on standards for assessing next-generation sequencing and ensuring its utility and safety.