Estonian 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 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.
Overview
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.
Data collection
All activities at the Estonian Biobank are conducted according to the Estonian Human Genes Research Act (HGRA). All participants have signed a broad consent form (see consent form information sheet as well), 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.
Learn more about the Human Genes Research Act
All subjects have been recruited randomly by general practitioners (GP) and physicians in hospitals. The participants are individuals who have joined the Estonian Biobank after hearing about it during promotion events, media, friends, etc. or visiting GP offices or hospitals for other reasons.
Upon recruitment, all participants completed a questionnaire, including data about their health status, lifestyle and diet.
The questionnaire includes:
- personal data (place of birth, place(s) of living, nationality etc.),
- genealogical data (family history of medical conditions spanning four generations),
- educational and occupational history,
- lifestyle data (physical activity, dietary habits - FFQ, smoking, alcohol consumption, women’s health, quality of life).
The EstBB database is regularly linked with national registries (such as Cancer Registry and Causes of Death Registry), hospital databases, and the database of the national health insurance fund, which holds treatment and service bills. Diseases and health problems are recorded as ICD-10 codes and prescribed medicine according to the ATC classification. OMOP mapping of data under preparation.
Data composition
| OMICS profiling | Sample size | |
| Whole genome sequencing | 3,000 | |
| Whole exome sequencing | 2,500 | |
| Genome-wide genotyping arrays | 200,000 | |
| Microbiome (Metagenomics) | 2,509 | |
| Genome-wide methylation arrays | 821 | |
| Genome-wide expression arrays | 1,100 | |
| mRNA sequencing | 600 | |
| Total RNA sequencing | 50 | |
| Metabolomics (NMR) | 10,840 |
The current cohort size is reflecting the age, sex and geographical distribution of the adult Estonian population: Estonians represent 83%; Russians 14%; and other nationalities 3% of all participants.
Data access
Pseudonymised data and/or biological samples are issued for the purpose of research by the Institute of Genomics of the University of Tartu (hereinafter referred to as the Estonian Biobank). This is based on the Human Genes Research Act.
The Estonian Biobank issues the following materials:
- data
- descriptions of the state of health and lifestyle (phenotype data)
- genetic data
- biological samples
- DNA
The steps for issuing the data and/or biological material:
1. Preliminary inquiry
To be able to use the data or biosamples or both of the Estonian Biobank (hereinafter ’the EBB’) for purposes of a scientific research project a preliminary inquiry should be sent via e-mail to releases@ut.ee. The purpose of the preliminary inquiry is to confirm whether the data or biosamples or both required for the planned research are available (in the necessary quantity).
Download the form for the preliminary inquiry here.
The Coordinator of Data releases will respond to the preliminary inquiry within 5 business days. The time for processing a preliminary inquiry depends on the precision and complexity of the inquiry.
Based on the response to the preliminary inquiry the researcher can draw up and submit an application to the Scientific Advisory Committee of the Estonian Biobank at the University of Tartu.
2. Application to the Scientific Advisory Committee of the Estonian Biobank
The EBB is part of the University of Tartu, which is responsible for ensuring that data of the EBB is only made available to researchers in accordance with the requirements and purposes set out by law. The Scientific Advisory Committee of the Estonian Biobank at the University of Tartu (hereinafter ’the SAC’) is an advisory body that evaluates the expediency and scientific value of the planned research.
| Time of SAC meeting | Deadline for submitting application |
|---|---|
| 13.03.2025 | 06.03.2025 |
| 10.04.2025 | 03.04.2025 |
| 08.05.2025 | 01.05.2025 |
| 12.06.2025 | 05.06.2025 |
| 07.08.2025 | 31.07.2025 |
| 11.09.2025 | 04.09.2025 |
| 09.10.2025 | 02.10.2025 |
| 13.11.2025 | 06.11.2025 |
| 11.12.2025 | 04.12.2025 |
The application must be sent via e-mail to releases@ut.ee.
Download the form for the SAC application here.
Application processing is subject to a fee (see the price list below). The SAC will give a preliminary response to the application within 15 business days of the date of the meeting of the SAC.
3. Application to the Estonian Committee on Bioethics and Human Research
The Estonian Committee on Bioethics and Human Research (hereinafter ’the EBIN’) evaluates the compliance of the planned research project with data protection requirements, the ethical aspects of it and the adequacy of the measures to be implemented by the researcher to protect the rights of the participants (i.e., the individuals from whom the data or the biosamples or both were derived).
In case the researcher is only asking for statistical summaries (and not pseudonymized data of the EBB), there is no need to submit an application to the EBIN.
If the researcher is asking to store and research biosamples of the EBB outside of Estonia, it must be stated in the EBIN application. In addition to a positive evaluation by the EBIN, a permit from the Senat of the University of Tartu is required. The permit of the Senat must be applied for in co-operation with the EBB (i.e., the researcher cannot apply to the Senat on his own).
The EBIN meets 6 times a year. The form for the EBIN application and the dates of EBIN meetings with application deadlines can be found at the webpage of the Ministry of Social Affairs.
4. Application for the issuance of data or biosamples or both from the EBB
After a positive evaluation by the SAC and the EBIN (and the issuance of a permit by the Senat, if relevant), an application for the issuance of data or biosamples or both must be submitted to the EBB via e-mail to releases@ut.ee.
NB: The decision of the EBIN must be submitted along with the application to the EBB for the issuance of data or biosamples or both.
Download the form for the application here.
Application to the EBB for the issuance of data or biosamples or both.
| Preservation and study of tissue samples of the Estonian Biobank outside the territory of Estonia |
To preserve and study the Estonian Biobank's tissue samples outside Estonia, permission must be obtained from the University of Tartu Senate. The stages of applying for permission from the UT’s Senate from the researcher's perspective are as follows:
|
5. Data and Material Transfer Agreement and Data Transfer Protocol
For the issuance of data or biosamples or both a Data and Material Transfer Agreement will be concluded with the researcher. After the signing of this agreement, the EBB will issue the data or biosamples or both based on a Data Transfer Protocol that must be signed by both parties.
If the researcher is located or operating outside of the EU/EEA, the Data and Material Transfer Agreement will include Attachment B containing standard contractual clauses for the transfer of data to third countries.
6. Price list
| Biobank services | Unit | Price for public legal persons and states agencies of RoE | Price with an internal turnover bill of UT |
|---|---|---|---|
| Processing of a preliminary inquiry | hr | 37,50€* | 30€ |
| Processing of an application to the Scientific Advisory Committee of the Estonian Biobank (SAC) | pc | 250€* | 200€ |
| Specifying with the applicant the processing of a more labour-intensive application to the SAC | hr | 50€* | 40€ |
| Consultation for submitting an application to the Estonian Committee on Bioethics and Human Research | hr | 50€* | 40€ |
| Applying for permission from the University of Tartu senat for biomaterial to be sent abroad | hr | 50€* | 40€ |
| Selection of phenotype data | hr | 31,25€* | 25€ |
| Selection of genomic data | hr | 31,25€* | 25€ |
| Setting up the HPC server | pc | 750€* | 600€ |
| Preparation for the issuance of DNA samples | hr | 37,50€* | 30€ |
| Issuance of DNA samples | pc | 2,20€* | 1,76€ |
The above set price list intended to cover the direct costs borne by the Estonian Biobank associated with the issuance of biomaterial and data.
The prices do not include the shipping costs of biological materials.
*statutory VAT is added to the price
The price for using the HPC server depends on the required computing power; the costs can be calculated here.
We are open to both academic and industry cooperation to enable scientific discoveries and improve human health. Estonian Biobank provides data for researchers to meet the challenge of greater understanding, prevention, and treatment of a range of different diseases.
If you have any questions or would you like to start a collaboration, contact us (lili.milani@ut.ee). Together we will find the best way to move forward.
Implementation activities of personalised medicine in Estonia
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.
Activities of the Estonian Biobank in the field of personalised medicine at the 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 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.
