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Last month, Jorge Conde handed out the first of his company's precious products: an engraved silver box housing a USB drive. On the drive, protected by encryption software, was the sequence of the recipient's entire genome, a proprietary analysis of his genetic risks for disease, and software for browsing the data.

The event signals a shift in the world of human genome sequencing. Until now, the handful of people who have had their genomes sequenced, including genomics pioneers Craig Venter and James Watson, have been part of government or industry efforts to study the human genome or showcase new sequence technologies. But thanks to Knome, a startup based in Cambridge, MA, genome sequencing is no longer just a research tool. Anyone with $350,000 to spare and an adventurous spirit can now have his or her own genome sequenced.

Knome is at the forefront of the push toward so-called personalized medicine. Scientists and physicians hope that when sequencing costs come down enough, genetic analysis will become a ubiquitous part of health care, helping doctors choose the best treatments for a specific...