Sunday, March 18, 2012

Personalized Medicine: Moore's Law Brings $1000 Genomes Within Reach

The promise of personalized medicine has long hinged on faster, cheaper and ubiquitous availability of whole genome sequencing.  

In order to make effective health care decisions to manage or fight cancer using personalized medicine strategy, oncologists ought to be able to follow the chameleonistic genome of cancer cells, and stay one step ahead by targeting strategies cancer cells employ to develop drug resistance, escape and metastasize.

Whole genome sequencing is one way to get an unbiased snapshot/picture of cancer genome and target the Achilles heels discovered in the process.  

Ion Torrent's Sequencer is at the forefront of bringing this technology to the masses with a cost of $1000 per test.  It is the Model T of the DNA sequencers.

Ion Torrent Sequencer was profiled in this month's issue of Popular Science.  Ion Torrent's first generation semiconductor chip called Proton I has 165 million microwells etched on it.  

Imagine 165 million simultaneous sequencing reactions on DNA fragments and the software putting it all together to create a map of 3.2 billion basepairs that make up the genome.  It's parallel processing that brings speed and miniaturization (on chip) that pulls down the cost.

The next generation chip, Proton II which is under development, will have four times the number of microwells.  Proton II chip will allow sequencing to be done under two hours with a cost of $1000 per test.  It will be released later this year. Already big university sequencing centers have shown interest in acquiring this sequencer.

The biological equivalent of Moore's law is at play here:  the first genome was sequenced at a cost of 3 billion over 13 years using traditional sequencing gels.  In 2004, when Ion Torrent introduced fiber-optic array, the cost went down to $24 million per genome.  Last year, the cost had fallen to $5000 when microwells were etched on semiconductor chip but it still took 2-4 weeks to complete the task.

Microwells on semiconductor chips are an equivalent of transistors on  semiconductor chips, and thus the prophesy of Moore's law coming true in sequencing technology.

Jennifer Abbasi writes in her Popular Science article, "and sequencing will only get cheaper.  At IBM, researchers are at work on a $100 sequencer, a chip that could read bases as DNA fragments flow through nanaometer-wide holes on its surface."


Abbasi J. The next sequence. Popular Science. 2012 Mar. 280(3):24-26. | weblink |

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