By Monica Heger
The market for whole human genome sequencing is shifting from the research sector to the clinic, Complete Genomics's CEO said at the Morgan Stanley Global Healthcare conference last week.
According to Cliff Reid, clinical sequencing will become viable at $3,000 per genome, new technology will enable different "grades" of genomes including a clinical-grade genome, and healthcare systems will be a huge opportunity for the expansion of Complete's sequencing services.
Reid said that the company would have the capacity by 2015 to sequence 1 million genomes annually, due to technology improvements in its sequencing platform (IS 9/20/2011), and most of those genomes will be "done for the clinical community for healthcare reasons."
"We think we're right at the beginning of the switch from research to clinical," he said.
Citing the company's recent deal with the Inova healthcare system to sequence 1,500 genomes (CSN 9/15/2011), Reid said that "while the evolution of the actual market remains to be seen," such deals represent a huge opportunity.
"About one-third of hospitals are in healthcare networks in the US. These organizations have two missions: patient care and medical research," Reid said. Sequencing patient genomes, incorporating those genomes into medical records, and tracking them over time "makes a huge amount of sense."
It is also a good opportunity for Complete Genomics, because healthcare systems like Inova have tens of thousands of patients on their rolls. "Fifteen hundred genomes is a pilot for Inova. I remember when pilots used to be eight [genomes]," said Reid.
At the UBS Global Healthcare conference in New York this week, Complete's chief financial officer Ajay Bansal added that the company has also been having "early-stage discussions" with a "handful" of other healthcare entities. However, he said that the company is not yet close to signing another large contract.
Additionally, Bansal said that the company has done a few pilot projects for the Children's Hospital of Philadelphia, the Hospital for Sick Children in Toronto, and the Children's Hospital of Boston. Those projects have so far only consisted of "tens of patients" for the hospitals to "see what whole-genome sequencing can bring to the table."
Falling prices were key to securing the Inova contract, which would not have possible at $10,000 per genome, Reid said. Going forward, he predicted that clinical sequencing would become more widely viable at $3,000 per genome.
While the $1,000 genome continues to be the "holy grail" of sequencing, said Reid, the "clinical price of DNA sequencing has already been established by Myriad [Genetics]" at around $3,000 — about the price of its BRACAnalysis test.
BRACAnalysis uses Sanger sequencing to test for mutations in two genes that are highly predictive of a woman's risk for developing breast and ovarian cancer, and even at over $3,000 each, Myriad is "selling lots of them," Reid said. In 2010, Myriad's BRACAnalysis test revenues were $353 million.
As the cost of whole-genome sequencing approaches Myriad's price for its two-gene test, it becomes more cost-effective to simply do whole-genome sequencing. "That's really a special price point," Reid said.
Additionally, Reid said the company would target "higher-value products" for clinical sequencing, including the company's long-fragment read technology, which will enable haplotyping. Complete plans to launch that technology to early-access customers by the end of this year, and make it more broadly available by next year.
The long fragment read technology is a method to sequence fragments 100,000-base pairs long. Reads that long allow for the two chromosomes to be distinguished from each other.
This will be critical for clinical sequencing, said Reid, because currently, individual chromosomes are not resolved, so if sequencing detects two mutations in one gene, there is no way of knowing whether those mutations are both on the same copy of the gene, rendering only one copy non-functional, or whether there is one mutation on each copy, potentially disrupting the function of both copies.
Haplotyping, such as with the long fragment read technology, will enable the "first clinical-grade genome," said Reid.
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