News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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Two Biotech Firms Pull Ahead in Race for $1,000 Human Genome Sequence

If you believe the press releases, the race to be first to achieve the $1,000 full human genome sequence is narrowing down to two primary contenders. One is Complete Genomics, Inc. of Mountain View, California, and the other is Pacific Biosciences (PacBio).

Last fall, Complete Genomics, Inc. was profiled in The Dark Report. It has ambitiously declared that, by this spring, it will be ready to roll out a global commercial DNA sequencing service. The company intends to offer pharmaceutical firms and researchers genetic sequences for $5,000 each, but predicts the cost could eventually come down to as low as $100! (See “Rapid Genome Sequencing Predicted by Mid-2009, The Dark Report, October 20, 2008)

The other contender believes it can tap the immediate consumer market for genomic profiles. Pacific Biosciences, a Menlo Park, California biotechnology firm, vows to offer a personal genome profile in 15 minutes for under $1,000 by 2010.  The company predicts the cost could drop to a mere few hundred dollars.

Experts have long predicted that “less than $1,000” is the price point required for advancing the use of whole human genome analysis in patient care. Currently it takes about six weeks and costs $100,000 or more to sequence the entire DNA of a single human.

Both companies are leveraging novel technology platforms to reduce time and cost of full sequencing of an individual human genome. Complete Genomics’ proprietary sequencing technology, a combination of biochemistry and nanotechnology, uses much lower volumes and concentrations of reagents than existing sequencing systems. That supports higher throughput and reduces materials costs to $1,000 per sequence.

PacBio, on the other hand, has developed innovative Single Molecule, Real-Time (SMRT) DNA technology that uses a small chip with tiny observation wells, called Zero-mode waveguides (ZMWs). The chip separates the DNA and deposits it into ZMWs, where a DNA polymerase molecule duplicates the DNA strands. The SMRT DNA machine captures the process as it occurs while reading longer fragments of DNA sequence. According to PacBio, this produces a faster, more complete read of the original DNA sequence.

Inexpensive whole human genome sequencing will trigger a rapid series of advances in genetic knowledge and new clinical services. Assuming that software systems can stay up with the billions of data points generated by a single human genome, then researchers will be able to search for how hundreds and thousands of genes may be implicated in different diseases and health conditions. In turn, that knowledge will be used to create new diagnostic tests, thus opening up a new field in laboratory medicine.

Next week, at the Molecular Summit in In Vivo and In Vitro Integration, this topic will be discussed. Experts in the molecular biomarker field, such as George Poste, DVM, Ph.D., Chief Scientist at the Biodesign Institute of Arizona State University, will be addressing personalized medicine, companion diagnostics, and the role that whole human genome sequencing will play in transforming healthcare. You can register and attend this exceptional conference by visiting this site: The full agenda and speaker line-up for Molecular Summit 2009 on February 10-11 can be viewed here (or paste this URL into your browser:

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Four Easy Ways to Register for Molecular Summit 2009:

1. Register ONLINE
2. Call 800-560-6363. Our friendly staff can register you quickly and easily, as well as answer any questions you may have.
3. Fax this complete registration form to 512-264-0969
4. Mail the one page register form with payment to:

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Intel, Others Invest $100 Million in Speedy New DNA Sequencer

This morning it was announced that Intel Corp. (NASDAQ: INTC) and other investors will pump $100 million into a start-up company that says, by 2010, it will launch sales of a system capable of sequencing the human genome in 15 minutes.

Pacific Biosciences of California, Inc. of Menlo Park, California, will receive $100 million in funding by a consortium of investors led by Intel Capital (the investment division of Intel Corp.) and Deerfield Capital Management, LLC, of Rosemont, Illinois. Other funders in the group included Mohr Davidow Ventures, Kleiner Perkins Caufield and Byers, Alloy Ventures, and DAG Ventures.

Pathologists and laboratory directors will recognize several significant developments in today’s announcement. First, Intel’s willingness to take a lead role in funding this DNA sequencing system affirms that genetics will be a major customer for information technology. Second, should Pacific Biosystems deliver, as early as 2010, a competitively-priced gene sequencing system that can sequence a human genome in 15 minutes, this will greatly accelerate progress in molecular diagnostics.

In scientific meetings over the past year, Pacific Biosciences has caused quite a stir with descriptions of its gene sequencing technology. In February, at the Advances in Genome Biology and Technology meeting in Marco Island, Florida, writer Julia Karow of In Sequence wrote how Pacific Biosciences “projects that, with improvements to its enzyme biochemistry and in camera technology, it will eventually be able to generate more than 100 gigabases of sequence data per hour, or a diploid human genome at about 15-fold coverage; provide reads at least as long as Sanger sequencing; and offer run times measuring in minutes at a cost of hundreds of dollars. Using a prototype system, PacBio researchers have already shown they can get read lengths of more than 1,500 bases and multiplex hundreds of sequencing reactions. The company predicts it will be selling its instruments to early adopters sometime in 2010 at a similar price to currently available next-generation sequencers.”

Competitors in this race to produce a cheap, fast human genome sequencing system include Illumina, Inc. (NASDAQ:ILMN), Helicos BioSciencs Corporation (NASD:HLCS), and Complete Genomics, Inc.

Dark Daily considers Intel’s participation in this latest round of funding to be another important validation of how genetics and molecular diagnostics will transform healthcare. Pathologists and laboratory administrators will want to track how the race to the “15-minute human genome” unfolds. With applications in research, in pharmaceutical development, and in clinical diagnostics, technologies such as that under development by Pacific Biosystems promises to be transformational to laboratory medicine as we know it today.

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