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The Estonian Biobank has established a population-based biobank of Estonia with a current cohort size of more than 200,000 individuals (genotyped with genome-wide arrays), reflecting the age, sex and geographical distribution of the adult Estonian population. Considering the fact that about 20% of Estonia's adult population has joined the programme, it is indeed a database that is very important for the development of medical science both domestically and internationally.
In recent years, there have been enormous developments in new knowledge, information and technology. Today, the genetic material of all Estonian Biobank participants has been genotyped using Illumina GSA microchip, which contains more than 700,000 SNP markers and includes specific variants of the Estonian population that allow an analysis of gene variants in the genome. This data helps to explain why people have different disease risks and why medicines affect them differently. This information can be the basis for the application of personalized medicine in Estonia.
The first pilot projects, with the support of the Estonian Research Agency's funding measure RITA, have been completed with the aim to develop and gradually implement the rules, procedures and principles for general practitioners and specialists necessary for the implementation of personalized medicine. The project involved research and clinical work in two areas – breast cancer and cardiovascular disease (myocardial infarction). During the project, more than 2,000 biobank participants received genetic feedback and were further researched and treated by family doctors, oncologists and medical geneticists if needed.
Estonian Biobank is in accordance with the standard ISO 17025:2017.
Analysis of genetic information and generation of ready-to-use genetic feedback reports for hundreds of thousands of people can only be done with the help of high-quality computer systems. In order to link genetic data to the healthcare information system, 5 million euros from the European Regional Development Fund will be invested into these activities between years 2019 to 2022. The project is coordinated by the Estonian National Institute for Health Development and is implemented in cooperation with the Ministry of Social Affairs, the National Institute for Health Development, the University of Tartu, the Estonian Health Insurance Fund and the Health and Welfare Information Systems Center. The first priority is to use genetic information in medicine and prevention, making it both more personal and effective.
In the course of the development, it is planned to firstly create a solution that allows the doctor to obtain information about the interaction of a specific drug and the patient's gene information when prescribing a drug, in order to prescribe more suitable drugs for patients based on their genetic information. In addition, there are plans to pilot an estimation of disease risk scores based on genetic information for some chronic and common diseases, such as type 2 diabetes, cardiovascular disease, and some malignancies, to help physicians make better treatment decisions and advise patients on prevention of health problems. It is also planned to train healthcare professionals for the successful implementation of applications developed within this project. The first developments are expected to be completed and should reach the doctor's working desk by 2023.
The Estonian Biobank is one of the founding members of BBMRI-ERIC, a major European research infrastructure that brings together European biobanks to ensure the harmonized development of biobanks, IT solutions, high quality and transparency, and an internationally high ethical and legal level.
In addition, the Estonian Biobank also participates in the global network of large biobanks International Hundred K + Cohorts Consortium, which operates together with the Global Genomic Medicine Collaborative community. As the name suggests, a biobank must be at least 100,000 individuals in size in order to be part of the community.
As a country (in the person of the Ministry of Social Affairs), Estonia has joined the 1+ Million Genome initiative (“1 + MG Roadmap 2020-2022”) among 24 European Union countries. Where in 11 working groups (management, ELSI, technology, rare diseases, cancer and complex diseases together with pharmacogenomics, Covid-19 et al.) all the topics necessary for the development of personalized medicine have been worked through by international experts, a roadmap for the necessary activities developed and distributed. Estonia is represented in the working group of cancer and complex diseases by Andres Metspalu, the head of the Estonian Biobank
The activities of the Estonian Biobank in the maintenance and preservation of the biobank are financed from the national budget through the Ministry of Social Affairs. The activities of the biobank in collecting tissue samples, compiling health status descriptions and family trees, pseudonymizing and depseudonymizing them, and conducting genetic research is financed from the national budget in accordance with the volume provided for in it and from other resource