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Gene Mapper’s DNA Profile Reveals His Health and Drug Risks

Publication Date: 
April 29, 2010
Source: 
Business Week
Author: 
Rob Waters

Professor Hank Greely, an expert in law and the biosciences, is quoted on the complexities of mapping the human genome for personalized medicine. Rob Waters of Business Week filed this story:

The most extensive analysis of one person’s DNA, for a Stanford University gene-mapping innovator, found what drugs might help him best and revealed his risk of diabetes and a rare heart condition that can cause sudden death.

The risk analysis was made by assessing the gene variants of the 40-year-old professor, Stephen Quake, along with his family history and previous findings on links between certain gene mutations and disease. The research, published in the journal Lancet, also showed he may not respond well to Bristol- Myers Squibb Co.’s blood thinner Plavix.

Quake’s entire genome was sequenced last year at a cost of less than $50,000 using a machine from a company he founded, Helicos Biosciences Corp., and technology he developed. The cost is expected to drop in the coming decade to $1,000, enabling more people to know their health risks and which drugs to take and avoid, said the study’s lead author, Euan Ashley. “This is the first time that an individual’s whole genome has been carefully analyzed for its medical implications,” said Hank Greely, a Stanford law professor and a co-author on the study. “This marks the beginning of the transition of whole- genome sequencing as a research tool to its use as a medical tool.”

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When the sequencing of Quake’s genome was announced last August, he and his colleagues said the work had been done by three people in five days. Analyzing the resulting gene map and assessing its implications took 30 researchers at Stanford and Harvard University 500 to 600 person hours, said Greely, the Stanford law professor who studies legal and ethical implications of genomics and participated in the research.

“We’re not going to be able to do that for each and every person,” he said. “We found 80 or more things in his genome that it might be a good idea to explain. If we spend three minutes on each, that’s four hours. Who’s going to provide, listen to, understand and pay for four hours of genetic counseling?”

This kind of genetic information may be useful or scary and is likely to be hard to understand, Greely said.

“People are not good at understanding risks,” said Greeley, who studies the legal and ethical implications of genomics, in a telephone interview today. “If we just dump all this data on people, some will ignore it and some will make bad decisions. We need to work hard to figure out better ways to educate doctors and patients about what these risks really mean.”