What's next for next-gen sequencing? Everything.

Print 20 January 2015
Stacy Lawrence / Fierce Medical Devices

SAN FRANCISCO--More than a few presentations at the JP Morgan Healthcare conference this week sought to address the future of next-generation sequencing, particularly with the huge waves of related news. Foundation Medicine ($FMI) sold half its company to Roche ($RHHBY) for up to $1.2 billion and NantHealth is already being used in most cancer centers to guide treatment with a whopping $1.5 billion already spent to get it there and another $800 million raised in the last 6 months.

On a more modest, and yet promising, scale, 10X Genomics nabbed a $55.5 million Series B to delve into the nuances of the genome and patient-facing genomic information company Invitae filed to raise up to $86 million in an IPO.

"We are finally hitting the beginnings of high-definition television. We are looking at a big enough number of genes to get good resolution," said Invitae CEO Randy Scott and a cofounder of Genomic Health ($GHDX) and Incyte ($INCY) at a conference panel on next-generation genomic sequencing. "We had a crude picture with rabbit ears for a while, but within the coming decades everyone on the planet will have genomic information and it will impact healthcare." Invitae was founded in 2012 and has raised $207 million. Foundation Medicine had been slated to have a panelist, but opted out of participating after it disclosed the Roche deal.

Chimed in Chad Robins CEO of Adaptive Biotechnologies, which recently announced a merger with Sequenta, "Genomics 1.0 was all about hardware and instrumentation. Genomics 2.0 is about how can you use this information to benefit the patient." Adaptive aims to create novel immunosequencing products to diagnose, treat, and monitor patients with cancer, autoimmune disorders and infectious diseases.

While Scott was effusive about genomic data for the global masses, George Yancopoulos, founding scientist and president of Regeneron ($REGN), is looking for in-depth, focused and long-term genomic analysis, "There's a problem with too much low quality information. You've got to sequence the right people. You've got to understand where the noise is. A lifetime of data on patients minimizes the noise and dramatically empowers. That's the secret sauce that will determine the difference between the winners and the losers."

A couple of panelists noted the difficulties in actually integrating this data into patient care. "In general the payer community is far behind on the benefits of next-gen sequencing. You need robust clinical data in multiple indications to bring it forward to payers to support reimbursement," added Robins.

But the panel was skeptical that some advances based on the latest genomic sequencing are really ready for prime-time yet--liquid biopsies in particular.

"The challenge, of course, is that any tumor DNA is diluted in the cell-free DNA of the blood," noted 10X Genomics Chairman John Stuelpnagel, co-founder and the first CEO of Illumina ($ILMN). "That dilution presents some challenges in understanding what's happening in the tumor."

Invitae's Scott agreed, but is optimistic that liquid biopsy will eventually have a place in the care continuum. "You need to pick up diminishingly small amounts of DNA in the blood stream. It's not a sample problem, but a signal to noise problem. One day you will have a germ line sequence on an individual, then sequence the tumor and then use blood DNA sequencing that monitors patients over time. All that data shared is what makes that genotype really start to thaw."

Precision medicine, driven by next-generation genomics, also figured prominently in a speech the next day at the conference given by National Institutes of Health Director Francis Collins. That, along with vaccines for Ebola, influenza and HIV and the presidential BRAIN initiative, were among only three research trends he highlighted and detailed further in a paper in the Journal of the American Medical Association.

"The most prominent possibility is in cancer, to link cancer patients to the most effective therapeutic. I'd love to see that approach ratcheted forward," he said. "Beyond cancer, when you marry genomics with mobile health, if gives people the increasing opportunity to monitor aspects of their own physiology and to tie that in with genomic information for prevention and chronic disease management. The full flower of that has yet to happen." 

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