For the first time, U.S. regulators will allow high-throughput DNA sequencing technology to be marketed as a diagnostic test.
On Tuesday, the U.S. Food and Drug Administration announced that four products from Illumina, the leading manufacturer of DNA sequencing machines, could be marketed as diagnostic devices.
While other DNA sequencing-based diagnostics have received FDA approval (e.g. a test for matching organ transplants from Illumina competitor Life Technologies was approved earlier this year), this is the first time the agency has approved a so-called “next-generation” sequencing technology. That technology is cheaper and faster than earlier sequencing methods and has been critical in advancing medical DNA analysis.
The hope is that the advances in sequencing technology will enable doctors to examine a patient’s genome for clues about the origin of disease (see “Genomics Technology Races to Save Newborns”) or how a patient will respond to treatments (see “Foundation Medicine: Personalizing Cancer Drugs” and “Consumer Genetic Test Can Predict Your Drug Response”).
Two of the approvals were granted to an Illumina sequencing machine and its related reagents, which constitute the first FDA-regulated test system that allows laboratories to develop and validate sequencing of any part of a patient’s genome. This means that, using those products, any lab can test any sequence for any purpose, write National Institutes of Health head Francis Collins and FDA head Margaret Hamburg in an editorial published on Tuesday in the New England Journal of Medicine.
Their commentary hints that such lab-made tests could come under increased scrutiny: “putting in place an appropriate risk-based regulatory framework is now critical to ensure the validation and quality of tests.”
The need for such regulation is underscored by a set of reports also published in NEJM on Tuesday that showed that genetic tests for blood-thinner response, seen by many as the poster child for the field, provide little help to doctors trying to find the best dose of blood thinners for their patients (see “Genetic Testing Falls Flat in Large Patient Drug Trials”).
The other two products approved by the FDA are genetic tests for identifying mutations that cause cystic fibrosis.