More FDA Workshops Focus on NGS Technology

Last year the FDA held workshops to discuss analytical standards for next-generation sequencing (NGS) and use of curated databases for establishing clinical relevance of genetic variants. The FDA continues its engagement with stakeholders regarding NGS technology, this year fostering public discussion regarding patient and provider perspectives about what to do with genetic test results in a March 2 workshop. Recognizing the vast amount of information that can be yielded from NGS, the difficulty in interpreting results of NGS testing and lack of evidence in some cases linking genetic variants to specific diseases the FDA workshop will discuss how best to make use of the results of NGS testing—based on patient and provider preferences.

The goal, the notice of the workshop announced, is “to learn, when results are generated in a CLIA-compliant laboratory, which results are of importance to patients and providers, how these results should be returned and how much and what types of evidence supporting interpretation of those results is necessary.”

Specific questions to be addressed are what patients and providers want reported “when there is no medical action that can be taken,” what patients would like to be reported “when there is limited or conflicting evidence supporting the results,” how best to present results, what should be included in reporting results, and what providers don’t need/want to know. The agency said it will provide case studies to spur the conversation and will make those available on its website in advance of the workshop.

Another workshop to be held Feb. 25, 2016 will also focus on NGS but with specific attention to analytical and clinical validation approaches to NGS-based oncology panels. The FDA notice of the workshop cites the potential for NGS technology to find numerous biomarkers in a patient’s tumor specimen and increasing use of NGS tumor panels to screen a cancer patient for several mutations at the same time. The purpose of the workshop is to gain public comment on “approaches to establish performance characteristics of NGS-based oncology panels that include variants that are intended to be used as companion diagnostics, as well as other variants that may be used for alternative therapeutic management of patients who have already been considered for all appropriate therapies.”

The agency will accept written comments until March 28, 2016 for the oncology panel workshop and until March 31, 2016 for the genetic test result reporting workshop. Registration is free for both workshops but advance registration for in person attendance is recommended. Live streaming webcasts are offered for both workshops.

Takeaway: The FDA continues to engage in public conversations about how best to ensure quality, efficacy and appropriate use of genetic testing and NGS technology.