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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Whole Gene Sequencing for Diagnosis Is Goal of Beth Israel Deaconess Medical Center and GenomeQuest in a New Collaboration

Goals are to use whole gene sequencing to develop better clinical laboratory assays in support of personalized medicine

Creating new clinical laboratory tests to support personalized medicine is one goal of a unique collaboration recently announced that involves the pathology department at Beth Israel Deaconess Medical Center (BIDMC) and GenomeQuest, Inc. (NASDAQ:GQ). The two collaborators are expanding a relationship launched several years ago that involved doing whole genome sequencing of tumors.

More specifically, the expanded relationship will be a two-year collaboration to develop whole-genome analysis (WGA) applications for personalized medicine. The move signals pathologists and clinical laboratory managers that first movers are taking steps to address the growing need for clinical genomics informatics infrastructure.

“The plummeting cost of sequencing and the increasing volume of predictive, public studies makes the clinical application of genomics not just a practicality but a healthcare imperative,” declared GenomeQuest CEO Richard Resnick. “We believe that our collaboration with a combined innovation and delivery leader like BIDMC is a major step forward in expanding genomics and its rewards from the bench to the bedside.” (more…)

New Semiconductor Technology Accelerates Whole Genome Sequencing at Reduced Cost

Clinical and anatomic pathology laboratories may soon find next-generation DNA sequencing reliable and affordable

Swift advances in whole human genome sequencing may bring clinical applications to pathology on a much faster timeline than expected.

One impressive example of the fast pace of technology improvements is the Ion Torrent, which is a semiconductor-based DNA sequencer now capable of sequencing 100 million base pairs. That is ten times the sequencer’s capacity when it was launched just last December!

It was August of last year when Life Technologies (NASDAQ: LIFE) in Carlsbad, California, paid $375 million to acquire Ion Torrent Systems, a start-up with operations in Guilford, Connecticut, and South San Francisco. If Ion Torrent achieves certain technical milestones through 2012, it will earn another $350 million.

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Boston Pathologists at the Forefront of Whole Human Genome Sequencing

1000 Genome Project publishes database of 800 whole human genome sequences


More than 800 whole human genomes were sequenced and the data was recently made available in a public database by the 1000 Genomes Project. This development is a reminder to medical laboratories and pathologists that clinical use of whole human genome sequences is fast approaching.

It is possible for clinical laboratory managers to access an article in the journal Nature that describes the work of the 1000 Genomes Project during this four-year pilot phase. The article is available on the Nature website as a PDF download.

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