Iceland: The Hot Wells of DNA

14. December 2015
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Genetic studies are meeting with great interest among Icelanders. Researchers have over the years collected genetic data on one person in three. Individual disease risk could now be conveyed with the click of a mouse. Should the people affected be given this information?

Reykjavík, 1996. the Human Genome Project was in full swing. Researchers were however soon to realise that sequence data only lets us know a small amount about disease risks. Kári Stefánsson‘s plans were nonetheless big.

He wanted to construct a super database including the genetic makeup of as many Icelanders as possible, in order to explore correlations. No sooner said than done. Two decades later, he had available to him the data and blood samples from almost one Icelander in three. The Harvard graduate owes his success not only to strategic planning but just as much to serendipity.

One keeps to oneself

Ever since the Vikings colonised Iceland, there have been neither been barbarian invasions and expulsions nor immigration of other ethnic groups on a large scale. For Stefánsson, Iceland is thus an almost ideal open-air laboratory with a uniform gene pool. He founded deCODE Genetics – and got his startup running with twelve million dollars of venture capital. A few years later Hoffmann-La Roche acquired exclusive rights to the use of the data pool for 200 million US dollars. Through the “Act on Biobanks” Iceland also gave deCODE Genetics the right to store and analyse health data. Another peculiarity of the country that was advantageous to him: many people there are interested in their own history; genealogy is almost considered a national sport. Why not combine business with pleasure? The result was thus “Íslendingabók“, a database on kinship and relatedness with extremely detailed information. It registers 4,000 to 5,000 clicks per month, which is not a bad figure given that there are about 300,000 Icelanders. Even more conveniently: information can be accessed via app – good to know for anyone who is about to head off to meet their next date.

It’s down to business

It’s only annoying that disease risks found in the genome didn’t lead in the short term to new pharmaceutical agents – in other words, no return on interest . By the end of 2009 deCODE Genetics was forced to file for bankruptcy. This new line of business was able to be saved by US-based venture capital. Amgen soon invested 415 million US dollars; sections went to Chinese investors later. The new majority owners saw the need for a new slate. The focus again became diagnostic possibilities derived from their treasure chest of data – in other words Stefansson’s original ideas.

Risk factors as a pot of gold

There are several historians actively working for deCODE . They are producing, based on document files, church documents and certificates, family pedigrees taking in almost all Icelanders, as far as possible. Therefore human geneticists can trace paths over generations, seeing who suffered from a particular disease — and who would be at high probability of getting the same. The best example is the condition hereditary essential tremor, a movement disorder characterised by involuntary, rhythmic tremor of the hands and arms. According to Orphanet the respective complaints appear during childhood right up to adulthood, with peaks in the second and sixth life decades. In recent years, more knowledge has also been gained. Researchers were able to find rare variants of the amyloid-β precursor protein (APP) gene, one associated with a significantly lower risk of Alzheimer’s [Paywall].

New data, new lot of luck

Now the team has published several articles on the importance of genetic variants. They sequenced the complete genomes of 2,636 people and compared their data to more than 104,000 genotyped Icelanders. Their new findings: by way of copying errors 7.7 per cent of all Icelanders [Paywall] had a gene that was no longer active – until now exact figures had been lacking. These loss-of-function mutations often affected gene sequences for olfactory receptors and rare areas that encode proteins in the brain. Loss-of-function mutations in ABCA7 occur in connection with a significantly higher Alzheimer’s risk [Paywall]. On top of that: Stefánsson says that he can with a mouse click identify from among the Icelandic population around 2,000 individuals with a mutation in the BRCA2 gene. Approximately 724 women would develop mammarian or ovarian carcinoma, and 360 men prostate cancer. From the epidemiological data of all Icelanders who were born between and including1914-1934, he calculated a loss of eleven life years for women and seven life years for men carrying this genetic peculiarity.

Iceland must decide

Good advice today is expensive. “Because Icelanders gave their consent to deCODE for carrying out research, it would be ethically inappropriate to contact the doctors of those individuals with the respective mutations”, it states in an editorial in Nature Genetics. Equally it would be wrong to do nothing – there are naturally medical options. “In our view, the decision lies with the Icelanders themselves”, the authors conclude. Experts at the local Ministry of Social Affairs are now working on a law. The first draft should be available by the end of 2015.

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