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.
As the cost of sequencing has plummeted in the last few years--from about $3 billion for the Human Genome Project to less than $5,000 today--the number of complete human genomes has blossomed. Hundreds have now been sequenced, though only about 13 have been made public. Scientists are moving their focus from the technical hurdles of sequencing itself to what they say that will be a much more difficult task: analyzing the content of genomes to better understand human disease and the health risks of the individual.
From Technology Review
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