Illumina plans to launch disease panels for the MiSeq before the end of the year as well as a CLIA version of its RapidTrack whole-genome sequencing service, company officials reported this week.
During a conference call to discuss Illumina's second-quarter earnings, president and CEO Jay Flatley said that the company is conducting "a number" of clinical trials with the MiSeq, results of which will show the reproducibility of the system. The trial results will also go to the US Food and Drug Administration, which "hopefully, will put their stamp of approval on the system as producing reliable and repeatable results."
"We're working with the FDA across a broad front here to make sure that sequencing gets moved forward quickly," Flatley said. "And I think the FDA is very on board with this idea, that they want to have sequencers approved, and to demonstrate that these machines are reliable [and] do produce accurate results — in many cases more accurate results than any of the existing technologies do."
Illumina is still on track to submit its MiSeq system, along with a so far undisclosed assay, to the FDA for 510(k) clearance before the end of the year, Flatley said. While that assay will be "unique to us," he said, Illumina does not own intellectual property around its content.
Also before year's end, Illumina plans to commercialize a number of targeted panels for the MiSeq, he said. Most of these will be marketed to CLIA laboratories through its Translational and Consumer Genomics business unit. While Flatley did not mention specifics, he said that these products, some of which will allow customers to add their own content, "will be enabling panels that will allow these CLIA labs to go after specific disease areas."
Another type of panel, developed by Illumina's molecular diagnostics unit, will be marketed directly by Illumina and will run on an FDA-cleared MiSeq, he added.
Flatley estimated that Illumina sells about 10 percent of its consumables into the clinical market today, and that this business is increasing "at a much faster rate than the research consumables are growing."
He said that a few "very rapidly growing" customers with a "large installed based" of HiSeqs have "fully commercial tests" in the market already.
As an example, Flatley pointed out five firms that are using the platform for non-invasive trisomy 21 prenatal testing and said that a number of them are "running tests every day now." While he did not name the firms, CSN has reported that Sequenom, Ariosa Diagnostics, Verinata Health, and Natera in the US as well as LifeCodexx in Germany are either offering or planning to offer trisomy 21 testing on the HiSeq.
On the sequencing services side, Flatley said that Illumina had orders for 3,500 human genomes in the second quarter, many of which are cancer genomes. A "fairly high percentage" of the service customers are cancer centers, he said, many without a large sequencing facility of their own.
Illumina also plans to offer its RapidTrack Whole Genome Sequencing Service, which delivers a human genome in less than two weeks, as a CLIA service in the future. The company launched the service for research use only last month and plans to test it in that environment for a couple of months in order to assess its market demand. Longer term, Flatley expects the CLIA version of the service to become more important than the research version because clinical results are usually more urgent. "Those are the types of genomes where there is a medical reason for it to be rushed through," he said.
Flatley reiterated that the company will hold a symposium entitled "Understand Your Genome" this fall (CSN 6/27/2012), for which it plans to sequence and analyze the genomes of approximately 60 participants. "With this program and related efforts, we are laying the groundwork for routine clinical use of whole-genome sequencing, clearly the way of the future," he said.