Illumina says it can deliver a $100 genome — soon

STAT – Next-gen sequencing pioneer Illumina says it may soon usher in the era of the $100 genome — which could, in theory, make consumer genomics orders of magnitude more accessible.

CEO Francis deSouza on Monday unveiled a new machine, called the NovaSeq, at this year’s J.P. Morgan Healthcare Conference in San Francisco. He said the machine’s scanning speed has increased to a pace that could unravel the DNA of an entire human genome in an hour.

Some caveats right off the bat: Even if it is that fast, it’ll still take much longer to actually interpret the data. And while deSouza promised the new machine is “expected one day” to allow for a genome to be sequenced for $100, the company isn’t quite there yet.

Nonetheless, the goal of $100 genome is tantalizing: Less than a decade ago, the cost of sequencing a full genome was several million dollars.

Broadening the reach of genome sequencing, by making it cheaper and faster, could help deepen researchers’ understanding of disease. San Diego-based Illumina has been leading the charge for several years in building genome sequencing tools.

“We need to sequence broader, by accessing and interpreting the entire human genome — not just looking at the exotic regions,” deSouza said. “We need to sequence deeper, for needle-in-the-haystack applications.”

Liquid biopsy — the technology being developed by Illumina spinout Grail — could be one major application for the NovaSeq, deSouza said. Grail recently gave notice that it’s on the verge of raising a $1 billion Series B round for its liquid biopsy research. This technology has yet to prove itself out, and is still in early testing. Grail will be one of Illumina’s biggest customers moving forward, deSouza said.

Six customers got an early preview of the NovaSeq in the past few days, deSouza said, and each has put in a purchase order for the devices.

These players include the Chan-Zuckerberg Biohub, the life sciences research engine launched by Facebook CEO Mark Zuckerberg and his wife, Dr. Priscilla Chan, as well as the Broad Institute of MIT and Harvard, and biotech companies Regeneron and Human Longevity Inc.

“Faster, inexpensive and innovative sequencing technology is a key component to driving breakthroughs in precision medicine,” Human Longevity Founder J. Craig Venter said in a statement.

Three years ago, Illumina made a big splash at the J.P. Morgan conference when it claimed that its then-new HiSeq X Ten machine could churn out a $1,000 genome. But the problem was, the powerful device was sold in multipes of ten —costing customers about $10 million.

The NovaSeq is meant to be a lower cost, and more accessible device. It will come in two models — dubbed the 5000 and 6000 systems. They’ll cost $850,000 and $985,000, respectively — allowing labs that couldn’t afford the X Ten to bring down their sequencing costs considerably, deSouza said. These up front costs are folded into the ultimate price tag that goes into sequencing a genome. So, too, are the costs for the chemicals it takes to run the machine, as well as the overhead expense of paying technicians to run them. Even electricity bills factor in, making $100 a bit lofty in the present. But as device and reagent costs go down, so should the individual cost per genome.

Illumina made two other announcements Monday at J.P. Morgan: It has partnered with IBM Watson, linking the artificial intelligence genomics product to Illumina’s TruSight Tumor 170 — a tool to help cancer patients receive the specific drugs they need. Illumina also partnered with Bay Area-based Bio-Rad Laboratories to work on single-cell genomic analysis, to help unlock the intricacies of complex diseases.

Image citation: Stephencdickson, CC BY-SA 4.0

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