Genetics practice and research in a small country: lessons from Iceland

Abstract

Iceland makes for an interesting case study in human genetics. It is a 103000 square kilometre island in the North Atlantic. Iceland was first settled in the year 874 and the founding population is estimated to be about 20000. Historical records describe that most settlers came from Norway or the British isles and this has recently been confirmed with genetic studies on the current population. For the next centuries the population fluctuated around 50000 and slowly increased to the current population of 320000 in the last two centuries. Until recently, immigration has been limited. The health service is mostly government funded often with centralised services and detailed record keeping. In the late 1950s, research studies on the genetic consequences to children of parental exposure to nuclear fallout in Nagasaki and Hiroshima were revealing little or no effect. This begged the question of accurately knowing the mutation rate and incidence of genetic disease in a non-exposed human population. After some consideration the Atomic Energy Commission in the United States decided on the Icelandic population for such a study. It funded the construction of a database involving the whole population and containing genetic and genealogical information. This project funded various genetic studies before concluding after about 20 years that the original questions could not be answered accurately with available technology. In 1998, DeCode Genetics Inc. proposed the ambitious construction of a centralised health database. This database would include all Icelanders and have connectivity between complete medical records, genealogy and genotypes where DNA samples had been donated. The proposed project came under criticism. It was first modified and eventually abandoned after legal disputes. DeCode went on to pursue massive genetic association studies on complex diseases, probably contributing more to this field then any other organisation. DeCode now offers susceptibility testing for complex diseases and direct-to-consumer testing. This challenges accepted norms for genetic testing. Recently, computerised genealogy databases in Iceland comprising all members of several generations have had a comeback. They were used, e.g., for a study showing an association between kinship and fertility. The genetic health service uses computerised genealogy databases and the National Cancer Registry to quickly and accurately generate large pedigrees for cancer genetic counselling. This raises the question whether informed consent is necessary for such applications. The quest to balance individual autonomy, privacy and advances in genetic technology still continues.