FDA rethinks regulatory approach for next-generation sequencing

Amid President Barack Obama's planned Precision Medicine Initiative, the U.S. Food and Drug Administration is evaluating its regulatory approach to next-generation sequencing (NGS).

While most diagnostic tests fit the FDA's "one-test, one-disease paradigm" for evaluating a test's analytical and clinical performance, NGS produces a massive amount of data that might require a new approach, FDA Commissioner Margaret Hamburg writes in a blog post.

The genetic sequencing might be used to predict a person's risk of developing various conditions and might help physicians and patients determine what course of treatment.

Hamburg says the FDA, last year, used an adapted approach to evaluating Illumina's MiSeqDx Instrument and its two tests for cystic fibrosis (CF) mutations. Rather than requiring data on every possible variant, it looked at how accurately the instrument sequenced a representative set of genetic variants. With the CF tests, it allowed Illumina to use a well-curated, shared database of CF mutations to demonstrate the tests' clinical value.

"FDA intends to develop a practical and nimble approach that will allow medical advances to be implemented as soon as possible, using its regulatory flexibility and the power of the information placed into high-quality databases," she writes.

FDA has published a preliminary discussion paper on the topic and will be seeking public comment at a meeting on NGS technology set for Feb. 20.

Obama announced last week that he will earmark $215 million in the 2016 budget to power the Precision Medicine Initiative, including $10 million for the FDA to develop the proper regulatory structure.

Last summer, The New England Journal of Medicine provided guidance on using genome-based technology effectively in clinical practice. Euan Ashley, an associate professor of medicine and genetics at Stanford University and an author on the study, compared the technology to "an unruly teenager," saying that it would take some "tough love" for such tools to make their way into every doctor's office.

In November 2013, however, the FDA ordered the startup genetic testing company 23andMe to stop showing health data based on their genetic tests, saying the results may mislead customers.

To learn more:
- read the blog post
- here's the discussion paper (.pdf)
- check out details of the public meeting