Newspaper article International Herald Tribune

U.S. Geneticist's Genome Sequencing Uncovers His Own Condition

Newspaper article International Herald Tribune

U.S. Geneticist's Genome Sequencing Uncovers His Own Condition

Article excerpt

His diabetes was treated successfully while in its early stages, long before it might have been if he had relied on a conventional visit to the doctor.

Human genome sequencing is already helping researchers find new treatments for illness. Now an unusual case study suggests that the benefits of sequencing may be enhanced in combination with detailed blood tests.

The case involves Michael Snyder, a geneticist who was both the lead author and the subject of a study on genomics reported in the journal Cell. The study began with the sequencing of Dr. Snyder's genome, which showed that he was at high risk for Type 2 diabetes. Then the research team did extensive blood tests every two months or more, keeping track of 40,000 molecules in Dr. Snyder's cells. About midway into the 14-month study, analyses showed that Dr. Snyder had indeed developed diabetes.

"My genome did predict I was at risk," he said, "and because I was watching out, I detected the illness pretty early."

The research team monitored the molecular changes closely as the disease developed. The illness was treated successfully while in its early stages, long before it might have been if Dr. Snyder had relied on a conventional visit to the doctor.

"This study is a landmark for personalized medicine," said Dr. Eric J. Topol, a professor of genomics at the Scripps Research Institute in California and author of "The Creative Destruction of Medicine." The study "is an unprecedented look at one person's biology, showing what can be accomplished in the future," he said. "This kind of granular information will one day allow doctors to manage illness in an altogether different and precise way."

The business of personalized genomic medicine has long been expected to blossom as low-cost sequencing of the human genome becomes available from the many companies now working in the field. Currently, the price of human genome sequencing is typically about $4,000, said George M. Church, a genetics professor at Harvard Medical School. But within a year, he said, it could be down to $1,000 or even less.

Dr. Snyder, a professor and chairman of the genetics department at the Stanford University School of Medicine, in California, said he had not been worried when his genome sequencing showed at the beginning of the study that he had a high risk for Type 2 diabetes.

"The disease doesn't run in the family," he said, "and I'm a touch on the thin side, so I don't fit the usual stereotype." Still, he kept a close eye on his glucose levels. Then, in the midst of the study, he caught a cold. "I have two little kids," he explained. "They get sick periodically," passing their colds on to others.

It was this viral infection that apparently prompted the onset of diabetes, possibly because of stress. "The cold was a bonus," Dr. Topol said. "We have not been generally associating viral infection with this type of diabetes. …

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