Overview of Biobanks in Estonia

There are several minor sample collections, but only one real biobank in Estonia, The Estonian Biobank, which was founded in 2000 as a population-based biobank. It was political decision to have one national biobank and this was regulated by the Human Genes Research Act in year 2000. Now, 19 years later, the biobank includes a collection of health and genetics data of 200 000 people, approximately 20% of the adult population of the country. The whole cohort of 200 000 is genotyped with Illumina GSA array (currently 152 000). The Human Genes Research Act allows regular updating of data through linkage to national registries enabling long-term follow-up of the cohort, and to re-contact the gene donors in the biobank. A nationwide technical infrastructure (X-road) for the secure electronic exchange of medical data has also been established and is maintained by the state. This allows creating the disease trajectories on all gene donors from the birth in the Estonian Biobank, where all contacts with the medical systems including ICD-10 diagnoses, prescriptions, lab data and EMR are included. Recently the deep sequencing of the whole genomes of 3,000 individuals has been completed, in addition to 2500 whole exomes.

It is used as the population based reference for imputing. Several pilot projects are being conducted in order to work out the best ways to return the heath related research data e.g. polygenetic risks scores (PRS) back to people in the biobank who are asking for it. For that purpose, decision support tools have been developed for several major diseases, including breast cancer and pharmacogenomics based drug response. Over 2000 people from the Estonian Biobank have received genetics based data up to now, and the feedback is very positive based on questionnaire data before, right after, and 6 months after the counselling. During the first contact with the genetic counsel and/or medical geneticist the report is explained. The pilot program on personalised medicine using PRS on CAD and breast cancer is ongoing in the two largest hospital in Estonia. All this will be transferred to the medical system in next few years. The outcome being that personalised medicine as 4P medicine (personal, predictive, preventive and participatory) has been achieved to the point of no return.

Access to biobanks in Estonia