26 July 2011


Story first appeared in USA TODAY.
Personal genomics, medicine tailored to patient's particular genes, may have come a step closer to the $1,000 genome.
And it is starting with Intel co-founder, Gordon Moore, the man behind the famed "Moore’s Law" prediction of exponentially growing computer power.
News of a low-cost semiconductor-based gene sequencing machine comes Wednesday in the jounal Nature, reported by a team led by Jonathan Rothberg of Ion Torrent by Life Technologies in Guilford, Conn.
DNA sequencing and, more recently, massively parallel DNA sequencing has had a profound impact on research and medicine. The reductions in cost and time for generating DNA sequence have resulted in a range of new sequencing applications in cancer, human genetics, infectious diseases, and the study of personal genomes, as well as in fields as diverse as ecology, and the study of ancient DNA,. Although de novo (new) sequencing costs have dropped substantially, there is a desire to continue to drop the cost of sequencing at an exponential rate consistent with the semiconductor industry's Moore’s Law as well as to provide lower cost, faster and more portable devices. This has been operationalized by the desire to reach the $1,000 genome.
The team reports the complementary metal-oxide semiconductor (CMOS) "ion chip" based sequencing machine unraveled the genomes of both bacteria and a person, identified as "G. Moore" of European ancestry, better known as Gordon Moore, the man behind "Moore's Law."
Intel: Moore’s Law
The study states they have demonstrated the ability to produce and use a disposable integrated circuit fabricated in standard CMOS foundries to perform, for the first time, 'post-light' genome sequencing of bacterial and human genomes. With fifty billion dollars spent per year on CMOS semiconductor fabrication and packaging technologies, their goal was to leverage that investment to make a highly scalable sequencing technology. Using the G. Moore genome we demonstrated the feasibility of sequencing a human genome.
Most genome sequencers rely on expensive fluorescent dyes. Moving genome sequencing into semiconductor technology promises to speed genomics, the researchers conclude, saying, their work suggests that readily available CMOS nodes should enable the production of one-billion sensor ion chips and low-cost routine human genome sequencing.
Geneticist Daniel MacArthur of Wired's Genetic Future blog, however, is critical of the report, saying, Ion Torrent is not yet a remotely competitive technology for affordable whole human genome sequencing. He criticized the study for statistics that he says obscure the reality of a relatively low-quality genome produced at a high cost.
Rothberg confirms his team has sequenced Moore's genes stating, yes it is THE Gordon Moore the father of Moore's law and co-founder of Intel.
A little more reason why: The development of ion semiconductor sequencing will have as profound and effect on sequencing as the introduction of CMOS imagers had on the development of digital photography - it will make sequencing ubiquitous, fast, and low cost.
The ability to leverage Moore's law, enabling more and more sensors and sequencing reactions per chip, makes the $1,000 genome not only inevitable but just the start.
Much like computing, sequencing directly on a ion chip enables the rapid and continual increase in speed and reduction in cost. At the rate of Ion's current technology improvements we will reach the $1,000 human genome in 2013 and continue to drop the cost from there.

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