The head of Estonian Biobank is the Professor of Genomics and Biobanking Dr. Andres Metspalu, (andres.metspalu [ät] ut.ee).
Population based biobank
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 programm, it is indeed a database that is very important for the development of medical science both domestically and internationally.
All activities at the Estonian Biobank are conducted according to the Estonian Human Genes Research Act (HGRA). All participants have signed a broad informed consent, allowing researchers to use their health and genomics data for various studies upon approval by the Estonian Committee on Bioethics and Human Research. The HGRA enables re-contacting and interviewing biobank participants, and the rules to access data and samples are clear and transparent.
Upon recruitment, all participants completed a questionnaire, including data about their health status, life-style and diet. The biobank database regularly receives additional data about biobank participants from national health-related databases and registries, thereby constantly updating the biobank database over time and, with it, improving the methods developed for better prediction of health risks. As Estonia's largest and one of Europe's most successful population-based biobanks, the Estonian Biobank is a welcome partner in international research projects around the world.
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 resources.
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 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. The project will end in May 2021 and we hope that it will provide valuable input to the Ministry of Social Affairs in developing a personalized medicine and personal disease prevention development plan for 2021-2030.
Implementation activities of personalized medicine in Estonia
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 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 score 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.
Activities of the Estonian Biobank in the field of personalized medicine at international level
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.