This article is a supplement to the special news feature "Sequencing's new race" published in the February 2010 issue of BioTechniques.

In 2004, the Revolutionary Genome Sequencing Technology funding opportunity from the National Institutes of Health (NIH) invited companies to submit grant applications describing novel ways to reduce the cost of sequencing a human genome to $1000. Since then, the funding opportunity has been renewed as the $1000 Genome Initiative, emphasizing the goal that will revolutionize human genomic research.

The NIH believes that the goal is within sight. In September 2009, director of the NIH Francis Collins told The Lancet that he believes the technology to meet the $1000 genome goal is just 3–5 years away. Is Collins' prediction in line with what the major competitors are estimating? Pacific Biosciences, Oxford Nanopore, and Complete Genomics believe that they are getting very close.

On your mark, get set, go

“We anticipate that by 2013, the SMRT sequencer will be available and able to sequence a human genome for a few hundred dollars—and in a matter of minutes,” Sejal Sheth, director of product marketing at Pacific Biosciences, told BioTechniques. Sheth said that by 2013, the company will vastly improve their technology to surpass that of competitor Complete Genomics, whose platform is available now.

Sheth believes that with this timeline, Pacific Biosciences will be the first to the $1000 genome. “We firmly believe that we have the leading third-generation single-molecule DNA sequencing technology,” said Sheth.

Clifford Reid, CEO of Complete Genomics, said that his company does not feel pressure from any other third-generation sequencing companies in the race to the $1000 genome. “Our unique business model provides customers with sequencing results as data reports rather than having customers purchase and run instruments,” said Reid. “Our offering will stay competitive within the sequencing market that caters to large-scale human genome studies.”

But Oxford Nanopore's director of communication, Zoe McDougall, was dismissive of the claims by these two companies, saying that their technology platforms are insufficient to meet the $1000 goal. “The technology that will deliver a true $1000 genome will not rely on light and optics,” said McDougall. Oxford's platform uses an electronic signal rather than an optical signal to identify base pairs of DNA. “We are uniquely placed to drive down the cost of sequencing,” she said.

McDougall said that Oxford Nanopore has an advantage for reducing total costs because its technology does not require reagents like their competitors. She said that only Oxford Nanopore will achieve a true $1000 genome, but the company has not published the specifications of their system to back up this claim. McDougall also declined to state a projected time frame for the release of their sequencing system.

At the finish line

The next-generation systems produced by companies like Applied Biosystems and Roche 454 Life Sciences enabled significant new research, like the Genome 10K project, an international collaboration to sequence 10,000 vertebrate species, or one genome for every vertebrate genus, that is currently underway. With funding from the $1000 genome project driving the production of a third-generation sequencing system it is only a matter of time before a system is commercialized and researchers begin to reap the benefits. Fields like personalized medicine and transcriptomics stand to significantly benefit from the capabilities of the third-generation.

Which company will be the one to break the $1000 genome goal first? What will be included in the total cost of that $1000? How will a winner actually be chosen? Though these questions remain unanswered, Pacific Biosciences, Oxford Nanopore, and Complete Genomics all predict there will be a winner soon – and according to each company, it’s going to be them.

From the introduction of the Sanger method to the completion of the human genome project, geneticists have been making significant strides toward understanding and accessing the information stored in our genes. Whether with optics, nanopores, or nanoballs, reaching the $1000 genome will mark another milestone achievement in the field of genetics. Yet like previously lauded achievements, it will most likely only be a stepping stone. With further developments and demands for speed, accuracy, easily assembled long-reads, and reduced cost, sights will soon be set on a $100 genome—or, perhaps, someday even the $1 genome.