The idea of using genome sequencing as a diagnostic tool is catching on fast. In May, a collaboration between S. San Francisco–based Genentech and Complete Genomics of Mountain View, California, revealed a staggering 50,000 single-nucleotide genomic mutations in a tumor from the lung of a heavy smoker that were absent in unaffected lung tissue (Nature, 465, 473, 2010). In another recent study, Victor Velculescu's team at Johns Hopkins Medical Institute in Baltimore partnered with Carlsbad, California–based Life Technologies to identify genomic translocations in colorectal and breast tumors that proved suitable as patient-specific biomarkers (Sci. Transl. Med., 2, 20ra14, 2010). In June, Life Technologies spearheaded The Genomic Cancer Care Alliance—a collaboration between the company and the Fox Chase Cancer Care Center, in Philadelphia, the Scripps Genomic Medicine in San Diego, and the Translational Genomics Research Institute in Phoenix, Arizona, to study whether whole-genome sequencing can help guide treatment decisions in oncology.
“In some ways, I think this has probably surprised all of us in the industry, and certainly me,” says Shaf Yousaf, division president of molecular and cell biology at Life Technologies. He and others credit changes in price and throughput as the primary drivers. The price point of sequencing of individual genomes has fallen below $10,000 across many platforms, as manufacturers and service providers slash prices with the fervor of salesmen on a car lot. In parallel, these systems now deliver complete sequences in under a week. “We're getting to the point where a genome can be extracted in a single experiment in a short time at an affordable cost and at increasingly high quality and repeatability,” says David Bentley, chief scientist and vice president at San Diego–based Illumina. In June, the company announced the launch of its individual genome sequencing service, which costs $19,500 but drops to $14,500 if a physician orders five or more at a time, and to $9,500 if an individual has a serious medical condition.
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