The US regulator, the Food and Drug Administration (FDA) has for the first time approved devices that use high throughput next generation sequencing (NGS) for clinical diagnosis based on genome analysis.
The Illumina MiSeqDx instrument platform and Illumina Universal Kit reagents together represent the first FDA-regulated test system that allows laboratories to develop and validate sequencing of any part of a patient’s genome. The kit reagents are used to isolate and copy DNA of interest from patient blood samples which is then sequenced and analysed using the MiSeqDx platform, comparing the genome sequence with a reference sequence and reporting differences between the two.
Review of these devices was via the de novo classification process, used for assessment of novel, low-to-moderate risk medical devices that are not substantially equivalent to an already legally marketed device.
The FDA has also approved two specialised applications that use the MiSeqDx system for cystic fibrosis carrier screening (testing for a panel of known CFTR gene variants) and clinical diagnosis (sequencing a large portion of the CFTR gene for comparison with a reference sequence).
Dr Alberto Gutierrez of the FDA’s Center for Devices and Radiological Health said that performance and quality data for the devices had not previously been available for next-generation sequencers, adding: “with this platform, labs can develop tests for clinical use with greater confidence because they use FDA authorized devices”.
In a commentary reflecting on news of the FDA’s marketing authorization for the Illumina MiSeqDx, National Institutes of Health (NIH) Director Dr Francis Collins observed that clinical use “opens the door for the transformation of research, clinical care, and patient engagement”. However, he also cautions that even the best technologies “cannot fully realize their potential if the relevant policy, legal, and regulatory issues are not adequately addressed” and calls for concerted action to develop evidence-based clinical applications, supporting policy, and ensure that patients’ rights and needs are addressed.