https://orcid.org/0000-0002-2964-6011
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Reedik Mägi, Diverse landscape of genomic research within the Estonian Biobank, Human Molecular Genetics, 2025;, ddaf026, https://doi.org/10.1093/hmg/ddaf026
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The Estonian Biobank (EstBB) is a national biobank hosted by the Institute of Genomics at the University of Tartu (Fig. 1). Established in 2000, it is one of the largest population-based biobanks in the world, with the sample size exceeding 212 000 individuals (including more than 74 000 parent–child pairs and 38 000 sib-pairs) and thus representing more than 20% of the adult population in Estonia. The biobank collects and stores health and lifestyle data, biological samples (DNA, blood plasma, buffy coat etc.), and medical information from national health databases on a large segment of the Estonian population to facilitate scientific research and the development of personalized medicine [1]. This extensive coverage provides a population-representative sample of the Estonian population and additionally enables various analyses, including genome-wide association studies and studies involving related individuals or families.
In June 2024, the Estonian Biobank launched an online participant portal (Fig. 2) to share personalized genetic reports, including disease risks, ancestry markers, and pharmacogenomics. This initiative is one of the largest global efforts to return genetic data to research participants. The platform provides actionable health insights, such as personalized recommendations for reducing disease risks, emphasizing the integration of genetic data with lifestyle factors. This approach aims to empower individuals to make informed health decisions, illustrating the potential of biobanks to contribute directly to public health [2]. Current version of the participant portal provides feedback concerning coronary heart disease and type 2 diabetes mellitus risks to biobank participants with European origin and work is ongoing for implementing similar models to other actionable complex diseases as well as to provide feedback to other and mixed ancesties.
