Iceland's Dilemma: Privacy Versus Progress

A small Icelandic startup has been granted a 12-year license to create and manage adatabase of the entire nation's medical and genetic records. Can it make medical history without violating patient privacy?

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The first piece of software DeCode developed was Project Manager, so named because it tracks and remembers all the blood samples and medical and genealogical data for each disease project. Project Manager also allows DeCode to analyze the data using statistical algorithms created in-house and elsewhere. Among the unique tools wrapped into the Project Manager is DeCode’s HaploTool, a statistical analysis program used to determine what versions of a gene are shared among families being studied for particular diseases. HaploTool builds on Allegro, a multipoint linkage analysis tool developed by DeCode that is used to examine the genotypes of families by placing genes or genetic markers on chromosomes and determining their proximity to each other. The closer the markers are, the more likely they’ll be inherited together -- important information because many diseases, such as Alzheimer’s and MS, are the result of many genes working together.

DeCode uses these IT tools to determine what unique genetic traits or sequences people with a certain disease share. Its scientists use Project Manager, HaploTool and Allegro to find a location or tiny piece of the chromosome that is shared by disease sufferers but not by unaffected participants.

"You’re just narrowing, narrowing, narrowing, narrowing the chromosome down to a very small region so you can work with it," explains Dr. Hakun Hakonarson, DeCode’s director of pharmacogenetics.

The researchers then use GeneMiner, a software package created by DeCode, to sequence the targeted region on the chromosome to determine if there in fact is a candidate gene there and if so, what it does. For example, when studying schizophrenia, researchers found more than one candidate gene in the same location, but they determined that only one of the genes codes for a protein is involved in regulating the central nervous system and thus is more likely to be involved in schizophrenia.

DeCode’s IT employees have developed a tool for cross-referencing the three data sets the company works with -- the medical records database, the genealogical database and the genotypic data from its disease projects. An analytical tool called the DeCode Clinical Genome Mineris will link the three. The company hopes to make money by selling subscriptions to the Clinical Genome Miner and licensing its software tools, including its system for encrypting medical identifiers. And some analysts think that is a viable strategy for the young company. Ian Smith, a London-based biotechnology analyst for Lehman Brothers, says the company’s early accomplishments illustrate the strength of DeCode’s software. "Some of the announcements they’ve made recently and the milestone payments they’ve received for drug targets that Roche is now working on offer proof that they can do what they set out to do," Smith says.

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