Pioneers of Disease-Oriented Population Genetics

TMF's biobanking working group visits biobanks in Iceland

Pioneers of Disease-Oriented Population Genetics

July 15, 2013. Iceland is the only country in the world that is able to use high-risk genetic variants with a high likelihood of common diseases in order to actually prevent diseases. With deCODE genetics, three university biobanks and biobanks run by professional societies the country has a research infrastructure that makes it possible to exploit the opportunities arising from the special characteristics of the Icelandic population and its historical development. Both technology and research results can nevertheless be also applied to the European population, according to Icelandic biobank experts on a visit paid by the TMF biobanking working group to Reykjavik on July 8, 2013.

Iceland only has 300,000 inhabitants, who – probably due to a so-called "founder effect" – are genotypically and phenotypically more homogeneous; family trees can be traced back to the days of the founders around 900 A.D. For nearly 100 years now Iceland has had a centralized healthcare system and the population has been very open-minded to new technologies and innovative procedures, and that also applies to the field of medical care. Such conditions have a positive impact on research into genetic variations. Geneticists assume that in that country the influence of such variants on the development of common diseases can be investigated more easily than in the much more heterogeneous populations throughout the rest of Europe.

Decentralized biobanks with quality control at the University Hospital

Reykjavik University Hospital operates three biobanks: in Pathology, under the umbrella of Laboratory Medicine, and in Microbiology. These biobanks are kept in different departments of the hospital on a decentralized basis. The members of the working group who participated in the visit reported that the biobanks generally consisted of conventional freezer parks without barcode tracking and without any sophisticated automation robotics for processing the samples. The pathology biobank alone stores over half a million samples from over 400,000 individuals.

Throughout the hospital an automatic online monitoring system has been established in recent years for monitoring the temperatures in the freezers, headed by biobank manageress Halla Hauksdóttir. It is connected to the communication and alarm system of Reykjavik University. Hauksdóttir explained that in addition to fast remedial action in the event of incidents the system had proven to be very successful in the quality control of components such as freezers and sensors. She said it was the backbone of a quality-controlled sample and data handling system at the hospital.

Deep phenotyping – a success factor

The Icelandic Heart Association (IHA), an independent, non-profit institution aiming to combat cardiovascular diseases in Iceland, stores sample material from over 70,000 Icelanders in its biobank. In a so-called "Reykjavik Study," a large-scale prospective epidemiological study with over 30,000 women and men who were born in Iceland between 1907 and 1935, the IHA investigated the risk factors for heart diseases over the last 40 years. In follow-up studies the Icelanders, together with US researchers, are now investigating the impact of genetic predisposition and gene-environment interactions on various health conditions in aging.

A major prerequisite for scientific collaboration and successful publication of IHA research is excellent "deep phenotyping" of samples / subjects by the IHA clinical laboratory. In addition to conventional test assays to determine cardiovascular risk factors, additional methods, some of which are very elaborate, are now being included.

The most quoted scientists in health-oriented, genome- wide research  

Dr. Unnur Dr. Unnur Thorsteinsdottir,
Vice President of Research
of deCODE genetics

... and Páll Gestsson, Head
of Robotics, guided the
participants of the excursion
through the biobank.


The deCODE genetics company has already been using automation, barcoding, and robot-based sample handling for its biobank for many years. Since suitable technology and software were not yet available at the beginning of the 2000s, appropriate systems were developed from the company's own resources or converted. Dr. Unnur Thorsteinsdottir, Vice President of Research, and Páll Gestsson, Head of Robotics, showed the visitors from Germany, among other things, robots for sample input and output, which originated in the car manufacturing industry. At the beginning the latter were converted and reprogrammed for the low-temperature range. They were fitted with protective jackets so that they would also operate smoothly at temperatures below -20° Celsius. The automated units are still in good working order. Nowadays deCODE genetics uses state-of-the-art array technologies, robots, and sequencing machines. Not just the steps and controls required for data generation are highly automated but so too are all the processes of database analysis and evaluation.

Dr. Kari Stefansson founded
deCODE genetics back
in 1996.
Together with his
employees he is regarded
as the most quoted scientist
in the field of health-oriented,
genome-wide research.
(© deCODE genetics)

Dr. Kari Stefansson established deCODE genetics back in 1996, at a time that was characterized by biotech euphoria. Back in the pre-genome era of those days he had foreseen that the Icelandic population would be particularly suited for disease-oriented, population genetics studies. As an academic spin-off, deCODE genetics was always financed by venture capital and it was recently taken over by the pharmaceutical company AMGEN. Nevertheless, the operators have succeeded in continuing to conduct top-level academic research on an independent basis. To this day the company does not make any commercial profits. Together with about 140 deCODE genetics employees, however, Stefansson is regarded as the most quoted scientist in the world in the field of health-oriented, genome-wide research.

The deCODE scientists have now completely sequenced the genome of 2,600 Icelanders and another 120,000 Icelanders have consented to have themselves genotyped with a high degree of precision. With the aid of this information and knowledge about genealogical data the deCODE bioinformatics has succeeded in depicting the genomic variants of virtually all Icelanders in its database. The database is now available for using highly penetrant genome variations that have an extremely high risk of an outbreak of dangerous diseases, e.g. cancer, in order to implement preventive measures in Iceland's healthcare system. They have made more progress than the rest of the world, and Icelandic society must now decide in what way it wishes to handle such a comprehensive resource on genomic variants so that it plays a key role in patient care.


Robots for sample input and output, which originated in the car manufacturing industry were converted and reprogrammed for the low-temperature range.

deCODE genetics stores
over half a million samples. The genome of 2,600 Icelanders could already be sequenced completely.

deCODE genetics has already been using automation, barcoding, and
robot-based sample handling
for its biobank for many years.

The members of the biobanking working group during their visit to the University Hospital in Reykjavik l. t. r.: Bjarni A. Agnarsson (Department of Pathology, University Hospital, Reykjavik), Magnus K. Magnusson (University of Iceland, Biomedical Center, Reykjavik), Halla Hauksdóttir (Security- and Qualitymanager of Clinical Biobanking at University Hospital, Reykjavik), Jon J. Jonsson, Department of Clinical Genetics at University Hospital, Reykjavik), Manuela Bergmann (German Institute of Human Nutrition), Michael Hummel (Charité Berlin, Institute of Pathology), Karoline I. Gaede (Research Center Borstel, Clinical and Experimental Pathology), Michael Neumann (University Hospital of Würzburg, Interdisciplinary Bank of Biomaterials and Data Würzburg), Helga Kristjansdottir (Centre for Rheumatology Research at University Hospital), Nadine Mathieu (University Medical Centre Göttingen, Department of Medical Informatics), Anita Posevitz-Fejfár (University Hospital Münster, Department of Neurology), Edgar Dahl (University Hospital of the RWTH Aachen, Institute of Pathology), Alexandra Stege (Charité Berlin, Institute of Pathology), Roman Siddiqui (TMF Office, Berlin), Michael Kiehntopf (Jena University Hospital, Institute of Clinical Chemistry and Laboratory Diagnostics), Vilmundur Gudnason (Icelandic Heart Association), Ulrike Bauer (Competence Network for Congenital Heart Defects), Sebastian C. Semler (TMF Office, Berlin), Michael Krawczak (Christian-Albrechts-University Kiel, Institute for Medical Informatics and Statistics).


Further Links

  1. TMF's biobanking working group
  2. deCode genetics
  3. Icelandic Heart Association