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
"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
"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
"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."