Sequencing a human genome in one day for $1,000

January 11, 2012

Sequencers (Credit: Life Technologies Corporation))

Life Technologies Corporation announced Tuesday that it is taking orders for its new benchtop Ion Proton Sequencer, designed to sequence the entire human genome in a day for $1,000.

Up to now, it has taken weeks or months to sequence a human genome at a cost of $5,000 to $10,000 using optical-based sequencing technologies. The slow pace and the high instrument cost of $500,000 to $750,000 have limited human genome sequencing to relatively few research labs.

The Ion Proton Sequencer is priced at $149,000. Baylor College of Medicine, Yale School of Medicine, and The Broad Institute will be the first customers.

The Ion Proton Sequencer is ideal for sequencing both exomes — regions in the DNA that code for protein — and human genomes. The Ion Proton I Chip, ideal for sequencing exomes, will be available mid-2012. The Ion Proton II Chip, ideal for sequencing whole human genomes, will be available about six months later.

The company’s Ion PGM Sequencer is ideal for sequencing genes, small genomes, panels of genes, or performing gene expression profiling, for as little as $99 a chip. The Ion PGM Sequencer’s speed, simplicity and scalability also make it an ideal platform to extend into diagnostics, the company says. Life Technologies will seek FDA clearance for the Ion PGM platform in 2012.

“Just six months after our first semiconductor sequencing chip was released, people used it to solve the German E. coli outbreak, sequencing the toxic strain in just a couple of hours,” said Dr. Jonathan M. Rothberg, the Founder and CEO of the Ion Torrent division. “Now, six months later we’re developing a chip that’s 1,000 times more powerful than that to sequence an entire human genome in about the same amount of time. That’s the power that semiconductors bring to sequencing.”

The Ion Proton Sequencer and Ion Reporter analysis software are designed to analyze a single genome in one day on a stand-alone server — eliminating the informatics bottleneck and high-capital, IT investment associated with optical-based sequencers. The optical-based sequencers require costly IT infrastructure to analyze the large volume of data generated by running batches of six or more genomes at once. The approach drastically slows analysis, which can take weeks to complete and creates the bottleneck in the process.

Another major challenge in whole genome sequencing is the interpretation of the genetic data for use in diagnostic and treatment decisions. To solve this problem, Ion Torrent has sponsored a collaborative effort with Carnegie Mellon University to develop open-source machine learning software that will help clinicians interpret and understand genetic data for meaningful application. Ion Torrent is also collaborating with Yale Medical School to identify best practices for diagnostic development and gene discovery as a model for genome sequencing in a clinical setting.