Genome Sequencing Promises to be Disruptive

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EVERYONE SHOULD CAREFULLY READ OUR LEAD STORY ON THE FACING PAGE. Titled “Rapid Gene Sequencing Predicted by Mid-2009,” it is a revealing look at the declaration of California-based Complete Genetics that, in less than eight months, it will begin delivering full human genome sequences priced at $5,000 each to interested customers at a cost of only $1,000 to itself!

Complete Genomics’ announcement represents the same paradigm-shifting earthquake in genetic medicine that occurred back on May 11, 1998. That’s the day when J. Craig Venter, Ph.D., and his partner, Perkin-Elmer, announced their plans to map the entire human genome for a cost under $300 million and do it in within three to four years. At the time, the Human Genome Project was about halfway through a 15-year, $3 billion project to complete the first full sequence of the human genome.

THE DARK REPORT predicted that Venter’s effort would succeed and, as it did, it would accelerate both the accumulation of genetic knowledge and the speed with which it was converted into clinically useful molecular diagnostic tests. We wrote: “Those laboratories and pathology practices which flourish in the year 2005 will be the ones which were early implementers of emerging genetics-based diagnostics.” (See TDR, June 15, 1998.)

Venter achieved his bold goal in just 25 months. It was June 25, 2000, when President Bill Clinton publicly announced the successful sequencing of the human genome and recognized the roles of both Venter and Frances S. Collins, M.D., Ph.D., who had led the Human Genome Consortium, in this accomplishment. For the lab industry, by 2005, a host of new lab companies had emerged to offer a growing menu of molecular tests. Molecular assays for infectious diseases and certain cancers were transforming clinical practices, giving truth to THE DARK REPORT’s 1998 prophesy.

Now THE DARK REPORT sees a parallel moment of disruption in genetic medicine. Complete Genomics and a host of competitors are about to trans- form human genome sequencing, dropping price and speed while opening the doors to vast amounts of new knowledge about DNA, RNA, and the human proteome. Pathologists and lab directors should prepare for an accelerating flood of new insights about genes and proteins. Many of these discoveries will rapidly lead to new laboratory tests that offer physicians and patients more precise tools for diagnosis, therapeutic decisions, and patient monitoring.

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