The Burrill Report


The U.S. Food and Drug Administration granted the first marketing authorization for a next generation genomic sequencing platform, Illumina’s MiSeqDx, for use as a diagnostic. The approval marks a transition of next generation sequencing from research to clinical use as doctors will increasingly consider a patient’s genetic information in their diagnoses and treatment decisions.

The approval comes as the cost of sequencing a human genome has dropped to less than $5,000 from hundreds of millions of dollars a decade ago.

“With the FDA's announcement, a platform that took nearly a decade to develop from an initial research project funded by the National Institutes of Health will be brought into use for clinical care,” wrote FDA Commissioner Margaret Hamburg and National Institutes of Health Director Francis Collins in an editorial in the New England Journal of Medicine published concurrent with the approval. “Clinicians can selectively look for an almost unlimited number of genetic changes that may be of medical significance. Access to these data opens the door for the transformation of research, clinical care, and patient engagement.”

Two of the newly cleared devices are used to detect DNA changes in the cystic fibrosis transmembrane conductance regulator gene, which can result in cystic fibrosis, an inherited chronic disease that affects the lungs, pancreas, liver, intestines, and other organs of those who inherit a faulty CFTR gene from both parents.

The FDA reviewed the Illumina MiSeqDx instrument platform and the Universal Kit reagents through its de novo classification process, a regulatory pathway for some novel low-to-moderate risk medical devices that are not substantially equivalent to an already legally marketed device.

For the de novo petitions, the FDA based its decision on the demonstrated performance of the MiSeqDx instrument and Universal Kit reagent systems across numerous genomic segments spanning 19 human chromosomes.

Collins and Hamburg noted that the approval could speed up the use of pharmacogenomic information for personalized medicine. “Placing genomic information in the electronic medical record would facilitate this kind of personalized medicine,” they write. “If the patient's entire genome were part of his or her medical record, then the complexities of acquiring a DNA sample, shipping it, and performing laboratory work would be replaced by a quick electronic query.”

November 22, 2013
http://www.burrillreport.com/article-fda_approves_first_next_gen_sequencer_as_diagnostic.html