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deCODE genetics

Pioneering Icelandic Genetics Company Denied Approval for Data-Mining Plan

deCODE Genetics, the company known for mining the DNA of Iceland's population to find links between genes and diseases, has hit a snag. As Science reports in this week's print issue, a national agency that oversees data privacy in Iceland has rejected a request from deCODE to allow it to apply computational methods to the country's genealogical records to estimate the genotypes of 280,000 Icelanders who have never agreed to take part in the company's research and link the data to hospital records.

Led by founder and CEO Kári Stefánsson, deCODE set out in 2006 to combine Iceland's extensive genealogical records with genetic data and also health records for all citizens to discover disease genes. After it failed to receive legal approval to use the health records without consent, deCODE instead built a research database using DNA and clinical data for more than 120,000 research volunteers. The company has published a slew of papers in top journals tying specific genetic mutations to risks of diseases, but has also weathered bankruptcy. Last December, Amgen purchased the company for $415 million.

The current dispute involves an approach in which geneticists calculate the odds of whether an individual carries a particular genetic variant without directly sequencing their DNA. Combining known and estimated genotypes for its research participants with genealogical data, deCODE is estimating what it calls in silico genotypes of close relatives of the research volunteers, essentially giving the company genotypes for all 320,000 Icelanders. The firm then uses these estimated genotypes for individuals as controls in its studies and also combines them with health records for patients who are part of a disease study in Iceland but whose DNA has not been sampled. deCODE has published six papers using the approach in the last 2 years in Nature (here and here), Nature Genetics (here, here, and here), and The New England Journal of Medicine.

But in a 28 May decision, Iceland's Data Protection Authority (DPA) ruled that if deCODE wanted to continue this strategy—it asked to impute the genotypes of 280,000 living and dead relatives of the research volunteers and link them to certain hospital records—it must obtain the relatives' informed consent.

Stefánsson is crying foul. He says that DPA has until now approved the use of estimated genotypes for Icelanders who have not consented to its research. "It makes little sense to us," he says. DPA interim Director Hörður Helgi Helgason tells Science that the agency's board will consider deCODE's request that it reevaluate the decision at a 25 June board meeting. For more, see this week's print story.