Ion Proton DNA Sequencer Decodes a Human Genome in One Day for $1,000

January 10th, 2012 Wouter Stomp Genetics

In our recent best of 2011 post, we wrote about the plummeting costs of genome sequencing, and just days into the new year another big leap has been taken. Today, Ion Torrent, a division of Life Technologies, made the announcement that it will be launching the Ion Proton Sequencer later this year, a benchtop sequencer that sequences the entire human genome in one day for just $1,000. It is the successor to the company’s PGM (Personal Genome Machine) which was introduced just over a year ago.

Just like with the previous iteration, semiconductor chips form the heart of the machine. CMOS chips are used similar to those found in digital cameras, but that detect chemical changes instead of light. Two such sequencing chips have been announced: The Ion Proton I chip, which is intended for sequencing exomes, has 165 million sensors and will be available mid-2012. The Ion Proton II Chip, specifically marketed for sequencing whole human genomes, has 660 million sensors (about a 50-fold more than the previous leading 318-chip) and will be available about six months later. The Ion Proton OneTouch system will automate template preparation and a stand-alone Ion Proton Torrent Server performs the primary and secondary data analysis. Altogether this means yet another significant increase in speed and reduction of the cost of genome-level sequencing.

The Ion Proton will be launched mid-2012. The machine itself has tripled in price to $149,000, compared with $50,000 for the PGM. However, after the initial investment the chip and biochemicals to sequence one genome will cost just about $1,000. The Ion PGM sequencer (with the added benefit of functioning as possibly the world’s most expensive iPod dock, a function which the Proton seems to have lost) will continue to coexist as a low-cost solution aimed at sequencing genes, small genomes, panels of genes and performing gene expression profiling. Last but not least, a little gem hidden in one short line in the press release was the announcement that Life Technologies will seek FDA clearance for the Ion PGM platform in 2012 (but not yet for the Proton), so it can be used in a clinical setting for diagnostic use rather than just for research purposes.