While biobanking is now considered an integral part of translational research, few projects have been as groundbreaking or revolutionary as Iceland’s deCODE program. Established in Reykjavik in 1994, the controversial project sought to collect and study genetic information from the country’s entire population. Now, 20 years later, the program’s leaders have revealed a number of fascinating statistics about genetic diseases and other factors affecting Iceland’s population. However, in a recent presentation, these scientists have begun pushing for another contentious program: the ability to connect the samples in their extensive freezer inventory to the donors themselves, allowing them to inform patients when they find genetic evidence of disease.
Currently, deCODE’s leaders estimate that their company has sequenced the whole genomes of 20,000 people and have collected less-detailed data on 150,000 people, equal to almost half of Iceland’s population. This has lead to a number of notable discoveries about the country’s overall health: for example, by studying the complete genetic sequences of 2636 Icelanders, incomplete sequences of 104,220 Icelanders, and an additional 4300 Europeans and Americans, the company was able to identify four gene variants linked to hear, liver, thyroid and brain disorders. Similarly, another study identified a gene called ABCA7, which doubles the risk of Alzheimer’s disease in Icelanders, Europeans and Americans. However, the most interesting report was likely the discovery that 7.7% of the 104,000 Icelanders studied, or 8,000 people, had at least one gene that does not function. This has already been found to reduce a person’s ability to discriminate smells, and deCODE is currently studying the individuals to determine if the loss has affected their health.
However, deCODE isn’t satisfied with solely making discoveries: in a recent statement, the company advocated for the ability to use their information to improve health. If successful, this change would alter years of protections that have been designed to protect the biobank’s freezer inventory. The program reportedly has safeguards in place which encrypts all of the data. This keeps patient data confidential while allowing deCODE’s lab sample tracking system to monitor its genetic data. Unfortunately, it also prevents information on potential disease risks from being reported to patients.
However, deCODE is currently in talks with the Icelandic Medical School and Ministry of Health to determine how to best manage the freezer inventory. One suggestion would reportedly leave the data encrypted but pass it along to the Icelandic health system, who would then alert patients who have agreed to be informed of their health risks. If successful, the program could be invaluable to other countries who are currently trying to build genetic databases of their own, including the United Kingdom.
Unfortunately, deCODE’s efforts have been understandably controversial: many critics have pointed out that the program assumes all Icelanders would want their medical records to be included, drawing attention to a court ruling in 2003 which forced the company to seek individual consent from all potential participants. Meanwhile, other critics have pointed out that the genetic information wouldn’t necessarily lead to new treatments and an improved quality of life; these things take time, after all. However, if successful, deCODE’s program could potentially change how Iceland and other countries views genetic diseases and healthcare, and even lead to new therapies.