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offer its diagnostic tests on a sequencing system of its own, Roche doesn’t need to choose between the Genia instrument and PacBio’s, he says.
“It’s very possible the two platforms will complement each other,” Zabrowski says. PacBio is developing a new sequencer for Roche’s exclusive use in human genetic analysis, he says. “What we’ll see going forward is what are the best applications to be used with these technologies.”
PacBio remains free to sell its sequencing system already on the market, the PacBio RS II, which has developed a following among researchers seeking highly accurate sequences, or specializing in microbial genomes. PacBio’s equipment identifies the letters in a DNA sequence with light sensors, like traditional sequencers.
But both the Genia and PacBio systems can read the sequence of a single piece of DNA—a method that can increase the accuracy of results compared with most sequencers now on the market, Zabrowski says. Using most existing equipment, researchers must make many copies of a DNA sample before it can be analyzed. The polymerase enzyme used to duplicate the DNA strand doesn’t always make perfect copies, so the resulting sequence may also be inexact. Those multiple DNA copies are also chopped up into smaller pieces before being read by traditional sequencers. Computers then sort through thousands of DNA puzzle fragments to reconstruct the full sequence of the intact DNA strand.
Genia’s electronic reading of single DNA strands requires “a lot less informatics horsepower” to reconstruct a sequence accurately, Zabrowski says. Roever expects that the Genia instrument will initially be able to sequence strands that are a few thousand bases long. But later, the read lengths could increase significantly, he says.
Roever, a software entrepreneur before he founded Genia, envisions some day creating a handheld instrument that could sequence a human genome for $100—a sort of health care equivalent of Apple’s iPhone. He foresees that doctors will use such units to get quick answers during patient visits, and that public health workers in the field will quickly identify microbes causing infectious outbreaks.
Roever says the winners in the sequencing market will, like Apple, control all aspects of the user experience from hardware to diagnostic applications.
“That’s an opportunity that we have and Roche has,” Roever says.
Zabrowski says Roche wants its own sequencer so it can tailor its diagnostic tests to suit customer needs, without relying on an outside company to provide a platform that could accommodate all Roche applications.
“We believe that having a sequencer is a critical component to success in future molecular testing,” Zabrowski says.
The eventual sequencing market could far exceed current worldwide revenues. Illumina, whose total revenues were $1.42 billion in 2013, currently controls more than 70 percent of the global market for sequencers, Businessweek reported. The company recently predicted that the market could climb as high as $20 billion.
But Zabrowski says such a revenue escalation hinges on the development of faster, less expensive instruments.
“I do think that sequencing technology needs to continue to evolve and improve for us to see the upside in the market,” Zabrowski says. “We’re still relatively early in the marathon.”
Who will end up as the big winners in the race? Roche certainly has deep pockets to dig into if it wants to be a contender. Thermo Fisher Scientific (NYSE: TMO), the Waltham, MA-based lab equipment and supplies giant, acquired Ion Torrent, Genia’s rival semiconductor-based sequencing system, when it bought Carlsbad, CA-based Life Technologies (NASDAQ: LIFE) in 2013. And BGI-Shenzhen, a Chinese genome sequencing company, gained a proprietary sequencing system when it bought Mountain View, CA-based Complete Genomics (NASDAQ: GNOM) in 2012.
But these rivals will all have to take on Illumina, which hasn’t been standing still. The market leader has diversified its product line, from its latest high-end sequencer, the HiSeq X Ten, to its lower-cost model, the MiSeq. Illumina is also moving into diagnostics. For example, in 2013 Illumina bought reproductive testing company Verinata Health of Redwood City, CA, and this year it closed a deal with biotech giant Amgen to develop a companion diagnostic for Amgen’s colorectal cancer drug panitumumab (Vectibix.)
Illumina is also in a prime spot to scout the next crop of sequencing innovators. In February, it launched the Illumina Accelerator Program, a six-month program that will help entrepreneurs develop next-generation sequencing applications. Participants will receive guidance and lab space in San Francisco’s Mission Bay biotech region from Illumina, and $100,000 from noted technology investor Yuri Milner in exchange for convertible notes.
Roche’s Zabrowski says there will be room for a variety of companies and technologies.