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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.

Quake and 13 other “genome pioneers”–a select group who have had their entire genomes sequenced–described their efforts to use their genomes to better manage their health at a conference in Cambridge, MA, this week. The early adopters included James Watson, co-discoverer of the structure of DNA, Harvard professor Henry Louis Gates, Jr., entrepreneur Ester Dyson, 17-year-old Anne West, and a handful of genomics executives.

Despite the complexity and remaining mystery of the human genome–scientists still don’t know the function of 90 to 95 percent of human genes–many of the pioneers at the event described using their genomic information to make medical decisions. John West, former CEO of Solexa, a sequencing company that was acquired by genomics giant Illumina, recently had his genome sequenced along with that of his wife and two children. West and his wife discovered they have higher risk of a certain type of glaucoma, which sent them to the ophthalmologist for screening. “Now we know there is something to look for, and the test is easy and relatively inexpensive,” he said at the conference. (Daughter Anne presented the results of her analysis of her family’s genomes to the illustrious audience.)

Seong-Jin Kim, director of the Lee Gilya Cancer and Diabetes Institute at Gachon University of Medicine and Science, in South Korea, discovered after genome sequencing that he has a tenfold increased risk of macular degeneration, the leading cause of blindness in people over age 60. “I am diligently taking preemptive steps in everyday life to prevent it,” he said at the conference. He takes high doses of antioxidants, which have been shown to slow progression of the disease, has regular eye exams, and avoids activities that tend to overexert the eyes. (The scientist is also trying to convince his wife to switch to an LED television, because they may be less damaging to the eyes than LCD.)

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Credit: Stanford University School of Medicine

Tagged: Biomedicine, genome, sequencing, personalized medicine, genetic variation, Stephen Quake

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