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. Researchers from the Estonian Genome Center at the University of Tartu alone have published over 830 research papers in peer-reviewed journals based on data from the Estonian biobank.
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.
The establishment of the Estonian Biobank has been pivotal in advancing personalised medicine in Estonia, serving as a cornerstone for the widespread use of genetic data.
From 2019 to 2023, the University of Tartu contributed to the national project "Development of personalised medicine solutions in Estonia", during which the necessary IT infrastructure was created to bring personalised medicine into common clinical practice in Estonia. While many proof-of-principle solutions, such as polygenic risk scores and extensive pharmacogenetic testing, have been effectively demonstrated in research projects, new IT components need to be developed and deployed to the national health system to integrate them into everyday clinical practice.
However, the IT infrastructure is only one prerequisite for introducing personalised medicine solutions in healthcare. To create specific application possibilities, it is necessary to go through a number of intermediate stages. The Health Insurance Fund (in Estonian: Tervisekassa) continues to develop the first personalised medicine services available in the national healthcare system within the next year.
The project "Development of personalized medicine solutions in Estonia" was realized in cooperation with the National Institute for Health Development, the University of Tartu, The Health and Welfare Information Systems Centre (TEHIK), the Health Insurance Fund, and the Ministry of Social Affairs.
Personalised medicine research and development centre of international excellence in Estonia
In early 2023, a consortium led by the University of Tartu and Tartu University Hospital received €30 million to establish, within the next six years, the most advanced regional centre of excellence for personalised medicine. This initiative aims to facilitate interdisciplinary collaboration to study all aspects of implementation. Achieving this goal will require closer collaboration between various research disciplines, ranging from clinical medicine and public health to social and data sciences. Our ongoing efforts are focused on contributing to the objective of extending the healthy years of citizens through advancements in genomics and personalised medicine. The project is supported by €15 million from the European Commission, with an equal investment from the Estonian state. For more information, please refer to the press release.
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 harmonised 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 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 personalised medicine have been worked through by international experts, a roadmap for the necessary activities developed and distributed. Estonia is represented in the working group on 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