One disease DeCode has focused on is asthma. Asthma patients and their relatives give blood to DeCode through a network of collaborating physicians. DeCode then processes the DNA in its laboratories, obtaining genotypes (variations in the genome) for each asthma sufferer. Those are then matched with the patient’s medical records, linking genotype to phenotype data -- physical details, including the person’s age and weight. DeCode fits each genotype into a web of family inheritance patterns to study the genetic differences between affected and unaffected relatives. The company then uses a suite of statistical analysis tools and sequencing equipment to locate common genes that may be involved in the development of asthma. Once those genes and the proteins they code for are revealed, DeCode and other companies can experiment with drugs that can directly target key proteins and thereby halt the disease process.

Thus far, DeCode has announced the discovery of about 24 genes it believes are related to more than 15 diseases. And Roche has begun programs to develop new drugs for three diseases: schizophrenia, stroke and peripheral arterial occlusive disease, a narrowing of the arteries in the arms and legs.

The Science Begins with Software

When DeCode first began the process of creating and mining its enormous genealogical and clinical databases, Stefansson quickly realized his company would have to become a software development business as well. There simply wasn’t a lot of existing software that could handle the mammoth databases that DeCode was exploring. So DeCode began creating a suite of tools, ranging from statistical analysis programs to security software, to aid its disease-gene discovery process, protect its data and provide a potential stream of revenue for the fledgling company. In fact, when you enter DeCode’s headquarters on the outskirts of Reykjavik, you won’t see scientists in lab coats or any of the 50 ABI Prism 3700 DNA analyzers the company recently bought. Instead, the nondescript office building, which looks like an insurance company inside and out, is mostly populated with employees at workstations. There is not a test tube in sight.

Hakon Gudbjartsson, who is in charge of DeCode’s software development efforts as vice president of infomatics, is the soft-spoken, even-tempered converse of Stefansson. Gudbjartsson returned to Reykjavik from postdoctorate work at Boston’s Brigham and Women’s Hospital to join the company in 1996. To create effective software for this emerging field, he works hand in hand with many of the 500 DeCode employees who use IT -- from statisticians and disease project managers to anthropologists and genealogical historians.