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: http://www.molecular-summit.com 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: http://www.molecular-summit.com/program.htm)

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