Robots Sequence the Human Genome
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Last March, Pacific Biosciences (Menlo Park, Calif.) was planning the commercial launch
of its third-generation sequencing platform: Single Molecule Real Time (SMRT) System.
In 2010, the company is much closer to achieving that goal. “We will provide a system
that is on par with second generation in terms of throughput and cost, but it’s going to
be dramatically better in terms of read length, amount of time to result, and other
features,” says Steve Turner, PhD, founder and chief technical officer of Pacific
Biosciences. “With our current technology, we’ve shown read lengths of up to 3000
bases and we expect to push that up to read lengths of 50,000 bases,” he says.
Although the 2010 system is impressive, Pacific Biosciences promises an even stronger
follow-up in 2014. “We intend to introduce another instrument in 2014 capable of
sequencing an entire human genome in a matter of 15 minutes for $100,” says Turner,
who adds that a tremendous amount of work must be done between now and then to
make the data useful to pharmaceutical companies and others.
Complete Genomics, Predictions
In March 2009, Complete Genomics (Mountain View, Calif.) was planning the validation
of its third-generation sequencing platform. Today, it has sequenced more than 50
human genomes and is preparing for the launch of a commercial service. Says Clifford
Reid, MBA, PhD, chief executive officer of Complete Genomics: “Third-generation
technologies are driving down sequencing costs to the thousand-dollar level per
“Eventually it will cost $1000 to sequence a complete human genome, but that’s going
to take a few years,” says Reid, who adds that his company plans to be the first to ship
thousand-dollar genomes. “When most companies talk about the thousand-dollar
genome, they talk about $1000 in reagent costs. We talk about $1000 in total price.”
And this eventual cost reduction can be directly attributed to technology: DNA
nanoarrays. Complete Genomics is able to pack more DNA onto one of these
semiconductor-based arrays, which drives down the cost per base of DNA sequenced.
The other cost reduction: Complete Genomics patterns these arrays with a perfect grid
of spots, which enables them to image the arrays very efficiently.
Reid predicts that Complete Genomics will impact the pharmaceutical industry in two
main ways. “In the diagnostics space, our technology is making it economically feasible
to run large complete human genomes in sequencing studies to look for new biomarkers.
This will enable them to expand the search for biomarkers beyond common variants
(SNPs) into more complex and rare variants that are likely to have much more power as
biomarkers or companion diagnostics for therapeutics, says Reid. “The second area is
that this will enable new pathway discovery. So, for the first time, researchers will be
able to identify on a systematic basis the causal variants underlying genetic diseases.”