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On your mark, get set … the race for the $1,000 genome heats up
November 2009
by Amy Swinderman  |  Email the author

Who will be the first to cross the finish line in the race to achieve the $1,000 genome? Our cover story (See "Big Blue goes after holy grail") details how the latest entrant in this quest, IBM, is developing a technology that the computer technology giant believes could put it in front of the international race to drive down the cost of gene sequencing. 
This competitive field includes at least 17 start-up and specialized genomics companies that are pursuing a wide range of third-generation technologies. In its recent "Genomics Law Report," corporate and commercial law firm Robinson, Bradshaw & Hinson P.A. noted that the most-well known entrants in the next-generation sequencing market include Illumina Inc., Oxford Nanopore, Pacific Biosciences, Complete Genomics, Halcyon Molecular, 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 this race suddenly become more intense.  
As noted by our senior editor, Jeffrey Bouley, while some of the other companies chasing this dream are banking on the development of computer, silicon and/or application technology to manage and analyze data that comes from instruments, the anomaly in IBM's efforts is that the technology could become the instrument itself.
According to IBM, its DNA Transistor could stop a DNA molecule at intervals as it passes through a nanopore hole, so that a sensor could read the base chemicals and provide a complete reading of a person's DNA.  
"Most other folks seem to be using technologies that use optical technologies, fluorescent labels and other methods that require more sample prep and more 'traditional' stages of analysis," Bouley, who has covered healthcare issues for more than 15 years, says. "What IBM is doing is to make this an electronic process, with minimal sample prep—perhaps verging on almost no sample prep. Run it through a chip, read it analyze it. So, from this, I think it's probably safe to say that IBM is more on the bleeding edge than some of the other players who have brought down the costs and complexity of sequencing, because its research represents a move toward silicon. Given how useful in silico modeling has become—and will undoubtedly be in the future—along with in vitro and in vivo research, it's just another example of the covergence of 'typical' pharma techniques with the electronics/computing portion of the world."  
What's more, IBM has established its competitive position by suggesting that its technology could push the cost of whole-genome sequencing to as low as $100 if its technology proves successful. This could make "a personal genome cheaper than a ticket to a Broadway play," the New York Times noted. That's a bold statement considering that human genome sequencing costs currently come with a staggering price tag of somewhere between $5,000 and $50,000, and that to date, no research group has been able to sequence the entire genome of a single individual.  
"Also, the Human Genome Project cost nearly $3 billion, so it's interesting to compare where we were, where we're at now and where we're trying to head," Bouley adds.
The ultimate goal of all of these efforts, of course, is to make gene sequencing more affordable, which will help usher in the much-ballyhooed era of personalized medicine and undoubtedly change many of the dynamics of the pharmaceutical development business. According to the National Human Genome Research Institute, "genome-based research will eventually enable medical science to develop highly effective diagnostic tools, to better understand the health needs of people based on their individual genetic make-ups and to design new and highly effective treatments for disease." Some say the attainment of such a coveted goal is not about the destination, but about the journey. In this race, both may be equally important.



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