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Illumina Plans to Submit MiSeqDx Assays for Cystic Fibrosis to FDA this Year

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In a major step toward developing FDA-approved clinical tests on the MiSeq system, Illumina is planning to submit two cystic fibrosis assays to the US Food and Drug Administration for 510(k) clearance.

Additionally, the company is developing a version of its MiSeq sequencer for clinical purposes, dubbed MiSeqDx. According to Greg Heath, Illumina's senior vice president and general manager of the Diagnostics business unit, MiSeqDx will have additional software that will "provide more process control, user traceability, and trackability, which are key requirements in the clinical lab."

The company has previously said that it would submit its desktop sequencer to the FDA this year, but had declined to specify which assay it would submit in conjunction with the system. This week it confirmed that it would submit the CF assays with the MiSeqDx system.

As part of the company's clinical strategy, it has both a Diagnostics business unit and a Translational and Consumer Genomics business unit.

Over the past several years, Illumina has been expanding the research and development arm of its Diagnostics unit, but recently began building out its commercial and clinical infrastructure in preparation for submitting the MiSeq through FDA clearance (CSN 9/5/2012).

The company is currently developing two cystic fibrosis assays — a diagnostic assay and a carrier screening assay.

The diagnostic assay will sequence the cystic fibrosis transmembrane conductance regulator (CTFR) gene, including all coding regions and flanking intron/exon sequences.

The carrier screening assay will sequence the CTFR gene along with the variants that are currently recommended for carrier screening purposes by the American College of Medical Genetics and the American College of Obstetricians and Gynecologists.

Heath said that Illumina plans to submit the system and assays to the FDA this year, and if approved, the assays would be sold as kits to be run on the MiSeqDx system.

Illumina does not plan to offer the test as a service.

The MiSeqDx assays will differ from the company's recently launched TruSight assays, which were developed as part of the company's Translational and Consumer Genomics unit and are designed for research use only (CSN 9/12/2012).

While individual laboratories can customize and validate the TruSight assays for clinical use, the cystic fibrosis assays developed for the MiSeqDx will be sold as validated clinical tests, Heath said, although they will require some validation in the users' laboratory.

Laboratories running the MiSeqDx system will still be able to perform research applications on it, but will require "the appropriate user access permission," Heath said.

Additionally, Heath said that the company will have a process for existing MiSeq owners to upgrade their systems to MiSeqDx, but said he could not disclose details of the upgrade process, including the cost, until the system receives FDA clearance.

The company is also working on other diagnostic assays to be run on the MiSeqDx system, such as cancer assays and tests related to reproductive health, Heath said.

Heath declined to provide details on these assays, such as the number of genes that will be screened for, the specific indications, or a timeline for development. However, he said that many of the cancer tests would require premarket approval by the FDA, so development would take longer than for the cystic fibrosis tests.

Additionally, he said the company thinks "infectious disease and transplantation are areas where Illumina's technologies can add value."

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