Who will be the first to cross the finish line in the raceto achieve the $1,000 genome? Our cover story (See "Big Blue goes after holygrail") details how the latest entrant in this quest, IBM, is developing atechnology that the computer technology giant believes could put it in front ofthe international race to drive down the cost of gene sequencing.
This competitive field includes at least 17 start-up andspecialized genomics companies that are pursuing a wide range ofthird-generation technologies. In its recent "Genomics Law Report," corporateand commercial law firm Robinson, Bradshaw & Hinson P.A. noted that themost-well known entrants in the next-generation sequencing market includeIllumina Inc., Oxford Nanopore, Pacific Biosciences, Complete Genomics, HalcyonMolecular, BioNanomatrix and NABsys, among others.
While some of these companies aren't yet household names,IBM certainly is, and when the New York Times broke the news Oct. 5 that the company was throwing its hat into the$1,000 genome ring, the "faster-cheaper-more reliable" mantra underlying thisrace suddenly become more intense.
As noted by our senior editor, Jeffrey Bouley, while some ofthe other companies chasing this dream are banking on the development ofcomputer, silicon and/or application technology to manage and analyze data thatcomes from instruments, the anomaly in IBM's efforts is that the technologycould become the instrument itself.
According to IBM, its DNA Transistor couldstop a DNA molecule at intervals as it passes through a nanopore hole, so thata sensor could read the base chemicals and provide a complete reading of aperson's DNA.
"Most other folks seem to be using technologies that use opticaltechnologies, fluorescent labels and other methods that require more sampleprep and more 'traditional' stages of analysis," Bouley, who has coveredhealthcare issues for more than 15 years, says. "What IBM is doing is to makethis an electronic process, with minimal sample prep—perhaps verging on almostno sample prep. Run it through a chip, read it analyze it. So, from this, Ithink it's probably safe to say that IBM is more on the bleeding edge than someof the other players who have brought down the costs and complexity ofsequencing, because its research represents a move toward silicon. Given howuseful in silico modeling has become—and will undoubtedly be in thefuture—along with in vitro and invivo research, it's just another example ofthe covergence of 'typical' pharma techniques with the electronics/computingportion of the world."
What's more, IBM has established its competitive position bysuggesting that its technology could push the cost of whole-genome sequencingto as low as $100 if its technology proves successful. This could make "apersonal genome cheaper than a ticket to a Broadway play," the New YorkTimes noted. That's a bold statementconsidering that human genome sequencing costs currently come with a staggeringprice tag of somewhere between $5,000 and $50,000, and that to date, noresearch group has been able to sequence the entire genome of a singleindividual.
"Also, the Human Genome Project cost nearly $3 billion, soit's interesting to compare where we were, where we're at now and where we'retrying to head," Bouley adds.
The ultimate goal of all of these efforts, of course, is tomake gene sequencing more affordable, which will help usher in themuch-ballyhooed era of personalized medicine and undoubtedly change many of thedynamics of the pharmaceutical development business. According to the NationalHuman Genome Research Institute, "genome-based research will eventually enablemedical science to develop highly effective diagnostic tools, to betterunderstand the health needs of people based on their individual geneticmake-ups and to design new and highly effective treatments for disease." Somesay the attainment of such a coveted goal is not about the destination, butabout the journey. In this race, both may be equally important.
