Biobanking and the new Human Genetic Research Act sets Estonia at the forefront of genomic medicine

Marking the Estonian Biobank’s 25^th anniversary, Estonia takes another major step towards advancing personalised medicine and personalised prevention with the adoption of the New Human Gene Research Act. The act enables the secure integration of genetic information into the national health system, allowing personalised medicine approaches to move from research into routine healthcare.

The Estonian Biobank celebrated its 25^th anniversary in March 2026. Launched in 2001 after the publication of the Human Genes Research Act, under the vision and leadership of Professor Andres Metspalu, the Estonian Biobank set an example on how to achieve participants’ trust, and how this can be leveraged to shape human genomics research and innovation globally.

As one of Europe’s large-scale population biobanks, the initiative, which was later integrated into the Estonian Genome Centre at the University of Tartu, pioneered the concept that genomics was both a public health tool and a cultural investment in Estonia’s future, aiming to make Estonia a laboratory for genomic-era health systems. Today, the biobank includes over 20% of the Estonian adult population, or 212,000 participants, and has national scale representation. Over the past 25 years, the Estonian Biobank has supported hundreds of studies and contributed to a large body of scientific literature, making key contributions to clarify the genetic basis of common complex disorders. Researchers have also used this resource to advance pharmacogenomics and risk-based screening programmes.  

The Estonian Biobank is firmly embedded in Estonia’s highly digitised health ecosystem. Using a broad consent signed by each participant, the comprehensive questionnaire documenting life-style, mental health and personality traits and other key information, is nowadays complemented by data retrieved from national health databases, including the National Health Information System and National Health Insurance Fund. The linkage to Electronic Health Records (EHR) and available e-governance tools make it possible to link genotype and other omics data to longitudinal clinical outcomes, supporting prevention, diagnosis and treatment decisions.

A growing number of biobank participants have their genomes sequenced, and all have been genotyped using high-density genomic arrays. In parallel, biomarker profiling and other omics data, together with EHR data and questionnaires, provide a level of multidimensional detail that is very valuable for disease prediction studies, promoting the advancement of personalised prevention for common complex disorders. In particular, the Estonian Biobank plays a groundbreaking role in the use of Polygenic Risk Scores (PRS) for disease screening and prevention. As a founding member of BBMRI-ERIC, it directly supports the pan-European efforts to build federated genomic data access networks, namely the 1 Million Genomes Initiative and associated project Genome of Europe.

One key innovation in the Estonian approach is how research feeds into practice. Through initiatives such as the MyGenome participant portal, distinguished at the 2025 Precision Medicine Awards as the Innovation & Collaboration of the Year, the Estonian biobank participants can access their data, receive information about genetic risks and make informed decisions about their health. The return of results is a new achievement and represented a shift in the role of citizens, from passive contributors to active partners in personalised medicine.

Now under the coordination of Professor Lili Milani, the Estonian Biobank stands as more than a research infrastructure. It is a working example of how population genomics can inform prevention, guide treatment and, ultimately, reshape public health.

In 2026, as it marks the Biobank’s 25^th anniversary, Estonia has taken another major step towards the implementation of personalised medicine with the adoption of the New Human Genetic Research Act, led by Raili Sillart (Estonian Ministry of Social Affairs and also a Vice-Chair of ICPerMed), which entered into force in April 2026.

Protecting people from genetic discrimination is fundamental to building trust in personalised medicine. This principle lies at the core of Estonia’s legislation and represents a major step forward in creating a secure, transparent and future-oriented framework for the use of genetic data in healthcare and research. This legislation modernises the legal framework governing genetic research, data use and healthcare integration, building on more than 25 years of experience with the Estonian Biobank.

The Act creates clear and transparent rules for how genetic and health data are collected, used and shared. It enables the secure integration of genetic information into the national health system, allowing personalised medicine approaches to move from research into routine healthcare. From a personalised medicine perspective, the act is a key enabler for integrating genomic data into clinical practice. It supports the development of clinical decision support tools, pharmacogenomics services and risk-based screening programmes. Estonia’s digital health infrastructure and large-scale biobank provide a unique foundation for implementing these innovations at national scale. In particular, the Estonian Biobank’s participant portal empowers citizens to actively learn about personalised medicine and increases transparency and trust in the use of genetic data. For citizens and patients, this means more tailored healthcare. One concrete example is the introduction of genetic risk-based prevention services, such as polygenic risk score-based screening for diseases like breast cancer, type 2 diabetes mellitus and coronary artery disease. These approaches allow earlier detection and more targeted prevention, helping individuals understand their personal health risks and take informed action. Importantly, the law strengthens safeguards by explicitly prohibiting discrimination based on genetic characteristics and ensuring that individuals retain control over their data and consent.

The legislation also significantly improves the efficiency and transparency of research processes. A centralised ethics committee streamlines approvals for studies involving sensitive genetic and health data, reducing administrative burden while maintaining high ethical standards. Researchers can access pseudonymised data within secure environments, enabling high-quality research without compromising privacy.

The act strengthens collaboration across sectors, as its development involved close cooperation between government, academia, healthcare providers, equity commissioner and data protection authorities. This multi-stakeholder approach ensures that the legal framework is both scientifically robust and socially acceptable. Furthermore, the Estonian model is closely aligned with European Union data protection regulations and contributes to broader European initiatives in personalised medicine and cross-border data use.The legislation also establishes a strong foundation for the use of digital tools and medical technologies in personalised medicine. Genetic data will be integrated into the health information system and can be used through clinical decision support tools, connected software solutions, and medical devices that assist healthcare professionals in diagnosis and treatment decisions. This creates the conditions for scaling personalised medicine services within routine healthcare while ensuring safety, quality, and regulatory compliance.

Looking ahead, the legislation opens new opportunities for innovation and scalability. By creating a clear legal basis for the reuse of genetic data in healthcare and research, Estonia enables the development of new services and technologies that can improve population health outcomes while maintaining trust. This approach is highly transferable to other countries seeking to integrate genomics into healthcare systems in a responsible and sustainable way.

Estonia’s approach strongly reflects the strategic priorities promoted through European personalised medicine initiatives, including EP PerMed, ICPerMed and the Personalised Medicine SRIA. In particular, the integration of genomic data into healthcare, citizen empowerment, interoperable digital infrastructures, trusted governance and legal frameworks position Estonia as a practical example of how European personalised medicine strategies, including personalised prevention approaches, can be implemented at national scale.

Overall, Estonia’s Human Genetic Research Act demonstrates how forward-looking policy can accelerate the transition from research to real-world personalised medicine. It highlights the importance of combining strong data governance, digital infrastructure, and patient-centred principles to unlock the full potential of genomic medicine for society.

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