Endorsements & Opposition
- At this time, there are no publicly reported endorsements for the draft guidance.
More broadly, there has been wide endorsement for the development of NGS-based tests for disease diagnosis. For example, a paper entitled “Next-Generation Sequencing for Cancer Diagnostics: a Practical Perspective” published in November, 2011 stated that “Next-generation sequencing (NGS) is arguably one of the most significant technological advances in the biological sciences of the last 30 years. The second generation sequencing platforms have advanced rapidly to the point that several genomes can now be sequenced simultaneously in a single instrument run in under two weeks. Targeted DNA enrichment methods allow even higher genome throughput at a reduced cost per sample. Medical research has embraced the technology and the cancer field is at the forefront of these efforts given the genetic aspects of the disease.”
- At this time, there is no publicly reported opposition to the draft guidance.
In more general context, there has been wide concern about the quality of NGS-based tests. The European Journal of Human Genetics expresses such concern in “Guidelines for next-generation sequencing” published on October 28, 2015: “The available NGS platforms are not stable yet in a sense that the technology and applications change constantly and rapidly.” “The one thing that should prevent people from prematurely offering NGS diagnostics is poor quality. Insufficiently validated tests do present a threat to patients, and their use in a clinical diagnostic setting is unacceptable.” The article further stated that “NGS should not be transferred to clinical practice without an acceptable validation of the tests according to the emerging guidelines.”
The FDA is also concerned with the quality of NGS-based tests. The discussion paper “Optimizing FDA’s Regulatory Oversight of Next Generation Sequencing Diagnostic Tests,” issued in December, 2014, proposed “implementing analytical standards that would ensure that NGS tests produce accurate and reliable results.”
Jacqueline Robinson-Hamm, PhD Candidate & Aubrey Incorvaia, MPP