The Perfect Population Base

Dr. Kari Stefansson strides into the conference room, portable phone in hand. The 51-year-old CEO of DeCode fits the stereotype of an Icelander -- tall and lean with a shock of spiky white hair and beard. He sounds like Sean Connery, but without the charm. He answers his high-tech phone in the middle of our interview and hangs up on the caller without a word as soon as he deems him insufficiently important.

A native Icelander, Stefansson left a cushy academic environment to develop plans for DeCode in 1996. As chief of neuropathology at Boston’s Beth Israel Deaconess Hospital, Stefansson had grown frustrated with the pace of academic research. At the time, he was studying multiple sclerosis and had become convinced there were inherited factors involved. And he was beginning to see the disease and its genetic roots as an information technology issue. "The fact of the matter is that the fundamental unit of life is a bit of information," Stefansson says. He felt strongly that the most efficient way to study those bits of information would be in the private sector. And he knew the perfect place to locate his startup.

Iceland, an island the size of Kentucky just below the Arctic Circle, has seen little immigration in the last 1,100 years. The population of 280,000, kept small throughout the centuries by plague and natural disaster, is almost entirely descended from a small group of ninth century Norse and Celtic settlers. Thanks to a national obsession with ancestry, there are records tracing those family ties to 75 percent of all the Icelanders who have ever lived. And, owing to a nationalized public health-care system, some medical records date back to 1915. Well-documented medical and genealogical records on this relatively homogeneous group of people mean that genetic mutations should be as conspicuous as geysers in the middle of the Icelandic countryside.

Even before DeCode was given the go-ahead to create the national medical records database, it had begun to work on the genetics of specific diseases, using the enormous amount of data available on the local population along with blood samples from willing participants. Now that it can plumb Icelanders’ medical records and match that information with genetic data culled from volunteer blood samples, DeCode hopes to identify and describe the function of genes or genetic variations that contribute to the onset of 35 common illnesses, including Alzheimer’s, lung and prostate cancers, Parkinson’s and osteoporosis.