NGS at JP Morgan
The annual JP Morgan Healthcare conference is an opportunity for lab instrument and product companies to recount their accomplishments of the previous year and set the stage for the coming 12 months. This year, a key topic was NGS.
As usual, Illumina made a big splash, launching a new company (see page 2), introducing its latest sequencer and updating guidance. The company also provided details of its installed base of the end of 2015: over 4,300 MiSeq systems, of which 10% were the HLA, forensics or diagnostics variations; approximately 1,150 NextSeq systems; about 2,050 HiSeq systems; and 300 HiSeqX systems for 27 customers; and 140 NeoPrep instruments. Last year, the company shipped 45 of its dedicated solution for forensics applications, and it expects that number to double this year.
Illumina’s latest sequencer, the $49,500, low-throughput MiniSeq, is 44% smaller than the MiSeq, with an output of 7.5 G for paired-end 150-base read. It is aimed at small labs doing targeted sequencing for molecular pathology, molecular biology or translational cancer research applications. Run times range from 4 to 24 hours. The system is designed to lower the barriers to NGS first-time customers, such as capital cost, sample volume and data processing, according to Joel Fellis, associate director of Product Marketing at Illumina. Samples per run range from 1–12 for miRNA profiling to 1–384 for gene expression profiling. Integrated software conducts data analysis, and data can be transferred to the cloud-based BaseSpace for further processing. Prices range from $550–$1,500 per run. Price per sample is comparable to or a little higher than MiSeq, but a higher number of samples per run reduces costs, according to Mr. Fellis.
At the conference, Illumina also previewed Project Firefly, which will also address the lower-price, lower-throughput market. Based on sequencing on a CMOS chip using a one-channel version of the company’s SBS chemistry, the system will include plug-and-play installation and consist of two 12 in2 modules. The library preparation module processes an eight-sample cartridge with preloaded reagents. A second module is for sequencing, with a run time of 3.5–13 hours. The product is expected to launch in 2017. Output per run is more than 1 G. Pricing for both systems will be under $30,000.
Also at the Conference, QIAGEN CEO Peer Schaltz provided details about the company’s new GeneReader NGS system, which was released late last year, touting its integrated workflow, flexibility and scalability. He emphasized that QIAGEN is the only vendor who can provide all components of an NGS workflow. “Our workflow allows customers to [start with] a raw sample—I’m not saying purified DNA, like everyone else—I’m saying a raw sample, a piece of FFPE tissue.” The integrated workflow consists of the QIAcube, GeneReadQIAcube, GeneReader and QIAGEN’s bioinformatics portfolio for analysis. Highlighting a key differentiator, Mr. Schaltz described a new “price-per-insight” model, which “basically triggers a payment to us when a successful report is generated.” It is designed to address the unpredictable costs of sequencing and results generation, providing assurances for first-time users. The system targets molecular pathology and molecular oncology clinical labs.

