Using Human Genomes to Improve Health Care

Several months after deciphering his genetic code last year, Stanford bioengineer Stephen Quake approached a cardiologist colleague. Early analysis of his DNA had flagged a rare genetic variant as potentially linked to heart problems. The variant, in fact, was located in a gene linked to sudden cardiac death in athletes, so physician Euan Ashley suggested Quake visit his office for some follow-up screening. Inspired by that meeting, the scientists spent the next year figuring out how to examine his genome in a way that would be meaningful to both Quake and his doctor.

The result--published today in The Lancet--is the most comprehensive clinical analysis of a human genome to date, highlighting both the medical potential of genomics and the hurdles that remain. "We wanted to try to answer the question of what a physician should do when a patient walks into the office with a copy of his genome and says 'treat me,' " says Quake, who was named one of Technology Review's top young innovators in 2002.…

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