Life Technologies introduces $1000 human genome sequencing in a day

10 January 2012

Life Technologies Corporation has announced it will introduce later this year a benchtop Ion Proton Sequencer that is designed to sequence the entire human genome in a day for US$1,000.

The company is taking orders for its  new sequencer, priced at $149,000. It is based on proprietary semiconductor gene sequencing technology that has made its predecessor, the Ion Personal Genome Machine (PGM), the fastest-selling sequencer in the world. The device will be introduced later this year.

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

Baylor College of Medicine, Yale School of Medicine, and The Broad Institute, have each signed up for multiple Ion Proton Sequencers and will be the first customers to adopt this transformative technology, the company says.

The life Technologies Ion Proton Sequencer chip
The life Technologies Ion Proton Sequencer chip

Breaking barriers

"A genome sequence for US$1,000 was a pipe-dream, just a few years ago," said Dr Richard Gibbs, Director of the Human Genome Sequencing Center, Baylor College of Medicine. "A US$1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing."

"Cost, speed and accuracy are key elements in the use of DNA sequencing for both disease-gene discovery and clinical utility," said Dr. Richard Lifton, Chair of the Department of Genetics, Yale School of Medicine. "The technological advances in the new Ion Proton instrument promise to be game-changing for both research and clinical applications."

"We are excited about the paradigm-shifting potential of the new Proton Sequencer, which projects to sequence a human genome in just a few hours with only one run on a single machine," said Dr. Chad Nusbaum, co-director of the Broad Institute's Genome Sequencing and Analysis Program. "The platform's speed and power promise to enable both large-scale research and new clinical applications."

The power of benchtop sequencing

Between the benchtop Ion PGM Sequencer and the benchtop Ion Proton Sequencer, the Ion Torrent technology can cover any application. The Ion PGM Sequencer is ideal for sequencing genes, small genomes, panels of genes, or performing gene expression profiling, for as little as US$99 a chip. The Ion PGM Sequencer's speed, simplicity and scalability also make it an ideal platform to extend into diagnostics. Life Technologies will seek FDA clearance for the Ion PGM platform in 2012.

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. In addition, the Ion Proton OneTouch system automates template prep and a stand-alone Ion Proton Torrent Server performs the primary and secondary data analysis.

"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."

Freedom the informatics bottleneck

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.

Simpler data interpretation

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 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.

"The huge variation in human genome sequence between individuals has always been an obstacle to understanding how to use sequence information to improve human health," said Dr Robert F Murphy, director of the Lane Center for Computational Biology in Carnegie Mellon's School of Computer Science, who will lead the multidisciplinary CMU team. "We believe new machine learning approaches will enable interpretation of personal genome sequences to help doctors diagnose and guide treatment in the near future."

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