Illumina today laid out a series of moves, a “strategic roadmap,” intended to expand the use of next-generation sequencing (NGS) to clinical settings that have slowly begun warming up to the technology—three days after electrifying the JP Morgan 32nd Annual Healthcare Conference by trumpeting the arrival of the long-awaited $1,000 human genome through its new HiSeq X10 system.
Illumina began laying out pieces of the roadmap in October, when president and CEO Jay Flatley also said the company would realign its business units around its core markets, with each new business unit to include product marketing, market development, technology development, and targeted informatics resources “to make it possible for them to quickly and efficiently translate market knowledge into market solutions.” At the time, the company unveiled five business units (life sciences, reproductive and genetic health, oncology, new and emerging markets, and enterprise informatics) and provided information on the accompanying personnel changes.
Today the company highlighted several additional moves in its new strategy:
In reproductive health, Illumina said it will expand its offerings based on the verifi® laboratory-developed noninvasive prenatal test (NIPT), submitting an IVD version on the HiSeq® 2500 system for FDA premarket approval by the end of 2014. It also will offer an NGS-based solution for preimplantation genetic screening, VeriSeqTM PGS, launching initially on the MiSeq® system, as well as an array-based karyomapping single-gene preimplantation genetic diagnosis (PGD) solution to identify embryos with genes associated with severe genetic disorders.
In oncology, the company previewed a targeted sequencing strategy that includes supporting the clinical community with content, namely a multigene, NGS-based test as a companion diagnostic for Amgen’s metastatic colorectal cancer drug Vectibix (panitumumab), for which Illumina and the biotech giant agreed to develop just yesterday. “Illumina is also working in collaboration with the oncology community to develop test guidelines and infrastructure to build actionable cancer genomics solutions,” the company added in a statement.
In emerging markets, Illumina will launch a human leukocyte antigen (HLA) typing product in mid-2014 for laboratories seeking next-generation sequencing on the MiSeq® platform. The product, Illumina asserts, will be faster, less expensive, and more accurate than current technologies. Additionally, the company introduced the MiSeq® Forensic Genomics System (MiSeq FGx), a system designed to simultaneously interrogate short tandem repeats and other valuable genetic markers to provide more comprehensive identification information from both challenging and standard biological samples. The solution, including consumables and software, is expected to be available in the first six months of 2014.
Illumina also previewed several products intended to simplify the end-user experience for sample preparation and analytics and further solidify the technology tool kit that can be used across markets to address customers' needs for integration.
- NeoPrep™ is intended as a push-button library preparation system. According to Illumina, it can provide simpler workflow to go from DNA or RNA to libraries ready for sequencing. It is designed to prepare up to 16 libraries per run, starting from as little as 1 ng of input for some assays. The first kits for NeoPrep will be TruSeq PCR-Free and TruSeq Nano, with other TruSeq and Nextera kits to follow. NeoPrep, expected to be available this summer, is an important step in Illumina's plan to offer "sample to answer" solutions.
- BaseSpace® OnSite is designed to provide the BaseSpace® experience in a simple informatics appliance, enabling NGS users to securely stream data directly to a local solution for storing, analyzing, and interpreting genomic sequence data. BaseSpace® Onsite is meant as a turnkey solution and is expected to be available in the first quarter of 2014.
- BaseSpace Core Apps is intended to transform sequence data processing into a push-button process for the most frequently used sequencing applications. These highly optimized apps, says Illumina, eliminate time spent configuring and maintaining software, and support RNA-sequencing, exome analysis, whole-genome sequencing, and tumor/normal analysis. BaseSpace Core Apps are available for BaseSpace including BaseSpace Onsite.
Illumina also said it would continue to pave the way for NGS in regulated markets with further submissions to the FDA, beginning with NIPT on the HiSeq® 2500, while also driving standards for the use of NGS in the clinic. In addition, the company said will continue to build the infrastructure and means with which to deliver a best-in-class regulated products pipeline through its IVD development group.
At least one pair of analysts expressed optimism on Illumina’s latest moves. “Illumina's analyst day highlighted the strength of the platform as they migrate into clinical applications,” Peter Lawson, D.Phil., and Eric Criscuolo of Mizuho Securities USA, wrote in a note to investors.
“Of particular interest is the clinical market opportunity now unfolding. We see diagnostics, in particular oncology and neonatal screening, as a significant driver of NGS uptake beyond the legacy academic/government research market. Additionally, consumer genomics could be an even larger market longer term. Risks are operational and new sequencing entrants that appear more headline risk at the moment."