NEW YORK (GenomeWeb) – Illumina said this week that clinical genomics is its fastest growing market, dominated by reproductive health, especially noninvasive prenatally testing. Oncology, which is primarily still on the translational research side, will soon move more into the clinical space, representing an even larger potential opportunity.
In addition, the firm has been working with the US Food and Drug Administration to "update the intended use of the MiSeqDx to include a claim for DNA isolated from multiple sample types," Illumina President Francis de Souza said during a conference call discussing the company's fourth quarter earnings.
During the call, Illumina CEO Jay Flatley said that the company's sequencing business grew 19 percent in the quarter contributing to total revenues of $512.4 million, including a 30 percent increase in shipments to clinical and translational customers. Orders for the FDA-cleared MiSeqDx system were at "record levels" in Q4, he said, and the company also submitted a "registration document for an [in vitro diagnostic] designation for the MiSeq in Korea."
Illumina also launched a new platform, MiniSeq, last month, and Flatley said that initial interest for that instrument has been strong, and he expects that it will open up a new market — customers new to NGS.
Oncology
While the clinical oncology market is still in the very early stages, Flatley said, customers doing clinical and translational oncology research are becoming increasingly important, as demand from those customers increased 40 percent in the quarter compared to the prior year.
Flatley said that 65 translational customers ordered its TruSight Tumor 15 panel, which launched last September and is based on standards set by its Actionable Genome Consortium. Illumina has also partnered with Amgen, which will use an investigational-use-only version of the panel in a new oncology development program, and is in discussions with other pharma companies about similar partnerships. Development of the larger 170-gene panel, TruSight Tumor 170, is "on track" to launch in the second half of the year as an RUO panel, Flatley added.
Illumina has previously said it planned to bring these oncology panels through FDA clearance. Flatley said on this week's call that the company is waiting on guidance from the agency to determine which products it will seek clearance for. Flatley said that it's important that any product it brings through FDA clearance gets approved in a timely manner so that it is not obsolete by the time it is cleared.
He did not provide a timeline for this, but a necessary step would be securing an update on the intended use claims of the MiSeqDx to include DNA from sample types such as formalin-fixed paraffin-embedded tissue or fresh frozen tumor tissue.
Currently, the MiSeqDx is cleared to analyze DNA isolated from blood, so it would not be cleared to run cancer panels that evaluate DNA isolated from tumor tissue.
Last month, Illumina announced it had formed Grail, a spinout that will focus on developing a circulating tumor DNA-based test for early cancer detection. Flatley said this week that Illumina is in the "late stages" of recruiting a CEO for Grail and has identified potential laboratory and office space in the Bay Area.
Illumina is also in the midst of transferring the ctDNA work it was doing with Memorial Sloan Kettering, its other internal R&D work on ctDNA, and related employees to Grail.
Flatley said that in 2016 Grail would focus on figuring out the final one or two methods for its test, adding that the company is currently "pursuing a number of different technologies." The eventual assay could involve not only DNA analysis, but also RNA and potentially methylation analysis. The ultimate format could involve running multiple tests sequentially or in parallel, he said.
Reproductive health
Illumina's noninvasive prenatal testing business has been fueled by recent coverage decisions by Anthem and other regional Blue Cross Blue Shield payors to reimburse for average-risk pregnancies, Flatley said. He estimated that more than 70 million lives are now covered by the two payors.
Illumina generates revenue from NIPT as both a service model and through its patent pool agreement with Sequenom, under which it outlicenses the technology to entities that develop and run the test in their own laboratories.
Flatley said that Illumina ran around 45,000 NIPT tests in Q4, which was slightly fewer than it ran in the previous quarter and would likely decline further due to a large NIPT customer recently transitioning to offering its own test. However, that impact would be partially offset by "continued penetration of the average-risk market," he said.
The NextSeq system has been especially popular among customers running their own NIPTs, particularly in China, where Berry Genomics has China FDA approval to run its NIPT on a version of the NextSeq, said Flatley.
Illumina also offers a kit called VeriSeq PGS for prenatal genetic screening of embryos prior to in vitro fertilization. Orders for that product grew by 25 percent, Flatley said. In addition, he said that the company finished patient enrollment ahead of schedule for its Single Embryo Transfer of Euploid Embryo (STAR) trial, which will measure the impact of using both VeriSeq PGS and embryo morphology in deciding what embryo to implant, on the success rate of IVF.
NGS-based PGS is "in the earliest stages of adoption," Flatley said, but predicted uptake would accelerate this year and next.