Illumina shares soared Tuesday after the company introduced its newest sequencer, the NovaSeq, that could one day enable researchers to sequence a genome for as little as $100.
Illumina CEO Francis deSouza said the new NovaSeq, will enable genomic studies that were not possible before.
Illumina Inc. hit the ground at full speed this week at the J.P. Morgan Healthcare Conference in San Francisco. The company announced a partnership with IBM Watson Health, a separate partnership with Philips, launched a single-cell sequencing solution with Bio-Rad Laboratories Inc., and offered a strong fourth-quarter sales forecast. But all of that news took a backseat to the introduction of a new sequencer, the NovaSeq, that could eventually enable researchers to sequence a genome for as little as $100.
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"This puts us on a path that allows us to radically continue to reduce the price of doing a whole genome," said Francis deSouza, president and CEO of Illumina, during an interview with CNBC.
The company's shares (NASDAQ: ILMN) spiked 16.60% ($23.50) to close at $165.04 Tuesday.
As much progress as companies like Illumina have made in the area of genomic sequencing, there's still a lot of research remaining to really understand the biology and how it impacts human health and disease, deSouza said.
"So by lowering the price of sequencing we can do much, much bigger studies to understand genomics and biology better, and we can actually do much deeper studies," deSouza said. "And that's really important for applications where you're looking for these rare events, you're looking for a few molecules of cancer DNA in the blood. And also, you can do much broader sequencings."
It wasn't all that long ago, 2014 in fact, that Illumina announced the $1,000 genome, deSouza said. While there is still work to be done before the company can offer the $100 genome sequencing, "we now understand what that work is and we can see what it would take to get from where we are today to a few years out with the $100 genome," he said.
With the introduction of this new sequencer, deSouza said the company expects existing customers will start to upgrade to the new system over time. He also said the company expects to gain new customers because of the capabilities the new system offers.
"There will be experiments that can be done now because you have so much power that couldn't have been done before," he said. "So we expect to see more organizations doing whole-genome sequencing when before they couldn't have had access to this technology."
The company also expects to see more tumor normal sequencing in cancer settings and other new types of experiments, deSouza said. "We expect NovaSeq to open up all these different exciting areas of research."
The company is launching two versions of the new system, NovaSeq 5000 and NovaSeq 6000, which are priced at $850,000 and 985,000, respectively. The 6000 series will begin shipping in March and the 5000 series will ship by mid-year, Illumina said.
The company also revealed a new partnership with IBM Watson Health to expand access to genome data interpretation by integrating Watson for Genomics into Illumina's BaseSpace Sequence Hub and tumor sequencing process. The collaboration is intended to help standardize and simplify genomic data interpretation, the companies said.
Researchers who use Illumina's cancer genome sequencing panel will have rapid access to information to help interpret the broad array of variant data produced by Illumina's TruSight Tumor 170, a solid tumor profiling panel designed to detect a comprehensive set of variants across 170 genes. The company said that in a matter of minutes, Watson for Genomics will read the genetic alteration files produced by TruSight Tumor 179, comb professional guidelines, medical literature, clinical trials compendia, and other sources of knowledge to provide information for each genomic alteration, and produce a report for use by researchers. That entire process typically takes scientists more than a week to complete, the company noted. Watson for Genomics ingests data from roughly 10,000 scientific articles and 100 new clinical trials every month. The software is expected to be available early this year.
Also, working with Royal Philips, Illumina said it plans to integrate its sequencing systems for large-scale analysis of genetic variation and function and Philips' IntelliSpace Genomics clinical informatics platform. The company said both Philips and Illumina will seek clinical research collaborations with U.S. health systems interested in developing precision medicine programs in oncology.
And finally, Illumina and Bio-Rad Laboratories Inc. launched a single-cell sequencing solution designed to give researchers the ability to investigate the coordinated contribution of individual cells in tissue function, disease progression, and therapeutic response.
Amanda Pedersen is Qmed's news editor. Reach her at firstname.lastname@example.org.
[Image credit: Illumina Inc.]