FDA Approval Gives Clinicians Ability to Look at Patients' Genetic Makeup

The FDA allowed marketing of four “next generation sequencing” (NGS) diagnostic devices. These devices can be used for high throughput patient gene sequencing to help with diagnosis and identification of the cause of symptoms.

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Two of the newly approved devices are used to detect DNA changes in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 

The instrument and reagent systems were evaluated against a publically available quality-weighted human reference genome that was created by the FDA and the National Institutes of Standards and Technology (NIST).

  • Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay – checks specific points in patient's CFTR gene sequence to detect known variants
  • Illumina MiSeqDx Cystic Fibrosis Clinical Sequencing Assay – sequences large portion of the CFTR gene to detect any differences compared to a reference CFTR gene

The FDA also granted de novo petitions for two devices that make up the first FDA-regulated test system. This allows laboratories to develop and validate sequencing of any part of a patient's genome. The software reports any differences between the patient and reference genomic sequence. 

The FDA's approval is based on performance of the instrument and reagent systems across genomic segments spanning 19 human chromosomes.

  • Illumina Universal Kit reagents – isolate and create copies of genes of interest obtained from patient blood samples
  • MiSeqDx instrument platform – gene analysis

Prior to NGS, gene sequencing associated with a specific disease state was long and expensive. However, NGS technology allows the interpretation of large DNA segments very quickly through a single test, and is becoming more accessible for use by physicians.

For more information call (800) 809-4566 or visit Illumina.com