Life Technologies has launched the new Benchtop Ion Proton Sequencer, which can determine the entire human genome for $1,000, in as little as one day. Previously, it had taken the machine anywhere from weeks, and even months to sequence a human genome, and would cost between $5,000 and $10,000.

Many large medical practices, including Yale School of Medicine, Baylor College of Medicine, and The Broad Institute, already have their own IonProton Sequencers.

Richard Gibbs, Director of the Human Genome Sequencing Center at Baylor College of Medicine stated:

“A genome sequence for $1,000 was a pipe-dream, just a few years ago. A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing.”

Dr. Richard Lifton, Chair of the Department of Genetics, Yale School of Medicine, said:

“Cost, speed and accuracy are key elements in the use of DNA sequencing for both disease-gene discovery and clinical utility. The technological advances in the new Ion Proton™ instrument promise to be game-changing for both research and clinical applications.”

Dr. Chad Nusbaum, co-director of the Broad Institute’s Genome Sequencing and Analysis Program agrees:

“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. The platform’s speed and power promise to enable both large-scale research and new clinical applications.”

The company says it is submitting the Ion PGM for approval from the FDA (Food and Drug Administration) this year. The machine is able to sequence genes, small genomes, panels of genes, and is also ideal for gene expression profiling. All of these advances will be made available for as little as $99 per chip. Its speed and straightforwardness make it an ideal candidate to eventually be used in diagnostics.

The Ion Proton Sequencer will also be able to sequence exomes, which are regions in the DNA that code for protein, and human genomes. The chip will be available to the public sometime in the next 6 months. The Ion Proton ll Chip will be available 6 months later, and will focus on sequencing whole human genomes. Additionally, a third chip, the OneTouch system, will be useful for automating template prep; an additional Ion Proton Torrent Server will perform primary and secondary analysis.

Dr. Jonathan M. Rothberg, Founder and CEO of the Ion Torrent division, said:

“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. 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 device’s software is designed to assess and examine an entire genome within 24 hours, on a stand-alone server. This does away with the informatics traffic jam and prohibitively high IT and capital investment, which historically has always been a hindrance with optical based sequencers.

Interpreting the genetic information for diagnostic and treatment decisions has always been a challenge in whole genome sequencing. To make this simpler, the Ion Torrent is teaming up with Carnegie Mellon University to come up with a software to assist health care professionals in understanding the genetic information for use.

Yale Medical School is also pairing with Ion Torrent to create with the most applicable way for diagnostic development and discovering genes, as a way to further assess genome sequencing in a medical practice.

Robert F. Murphy, director of the Lane Center for Computational Biology concludes:

“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. We believe new machine learning approaches will enable interpretation of personal genome sequences to help doctors diagnose and guide treatment in the near future.”

Life Technologies Corp’s share price rose 9.1% by mid-morning today, after climbing impressively yesterday.

Written by Christine Kearney