IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v16y2025i1d10.1038_s41467-025-58465-3.html
   My bibliography  Save this article

The Estonian Biobank’s journey from biobanking to personalized medicine

Author

Listed:
  • Lili Milani

    (University of Tartu
    University of Tartu)

  • Maris Alver

    (University of Tartu)

  • Sven Laur

    (University of Tartu
    STACC)

  • Sulev Reisberg

    (University of Tartu
    STACC)

  • Toomas Haller

    (University of Tartu)

  • Oliver Aasmets

    (University of Tartu)

  • Erik Abner

    (University of Tartu)

  • Helene Alavere

    (University of Tartu)

  • Annely Allik

    (University of Tartu)

  • Tarmo Annilo

    (University of Tartu)

  • Krista Fischer

    (University of Tartu
    University of Tartu)

  • Robin Hofmeister

    (University of Tartu
    University of Lausanne)

  • Georgi Hudjashov

    (University of Tartu
    University of Tartu)

  • Maarja Jõeloo

    (University of Tartu)

  • Mart Kals

    (University of Tartu)

  • Liis Karo-Astover

    (University of Tartu)

  • Silva Kasela

    (University of Tartu)

  • Anastassia Kolde

    (University of Tartu
    University of Tartu)

  • Kristi Krebs

    (University of Tartu)

  • Kertu Liis Krigul

    (University of Tartu)

  • Jaanika Kronberg

    (University of Tartu)

  • Karoliina Kruusmaa

    (University of Tartu)

  • Viktorija Kukuškina

    (University of Tartu)

  • Kadri Kõiv

    (University of Tartu)

  • Kelli Lehto

    (University of Tartu)

  • Liis Leitsalu

    (University of Tartu)

  • Sirje Lind

    (University of Tartu)

  • Laura Birgit Luitva

    (University of Tartu
    University of Tartu)

  • Kristi Läll

    (University of Tartu)

  • Kreete Lüll

    (University of Tartu)

  • Kristjan Metsalu

    (University of Tartu)

  • Mait Metspalu

    (University of Tartu)

  • René Mõttus

    (University of Tartu
    University of Edinburgh)

  • Mari Nelis

    (University of Tartu)

  • Tiit Nikopensius

    (University of Tartu)

  • Miriam Nurm

    (University of Tartu)

  • Margit Nõukas

    (University of Tartu)

  • Marek Oja

    (University of Tartu)

  • Elin Org

    (University of Tartu)

  • Marili Palover

    (University of Tartu)

  • Priit Palta

    (University of Tartu)

  • Vasili Pankratov

    (University of Tartu)

  • Kateryna Pantiukh

    (University of Tartu)

  • Natalia Pervjakova

    (University of Tartu)

  • Natàlia Pujol-Gualdo

    (University of Tartu)

  • Anu Reigo

    (University of Tartu)

  • Ene Reimann

    (University of Tartu)

  • Steven Smit

    (University of Tartu)

  • Diana Rogozina

    (University of Tartu)

  • Dage Särg

    (University of Tartu)

  • Nele Taba

    (University of Tartu)

  • Harry-Anton Talvik

    (University of Tartu
    STACC)

  • Maris Teder-Laving

    (University of Tartu)

  • Neeme Tõnisson

    (University of Tartu)

  • Mariliis Vaht

    (University of Tartu)

  • Uku Vainik

    (University of Tartu
    University of Tartu
    McGill University)

  • Urmo Võsa

    (University of Tartu)

  • Burak Yelmen

    (University of Tartu)

  • Tõnu Esko

    (University of Tartu)

  • Raivo Kolde

    (University of Tartu)

  • Reedik Mägi

    (University of Tartu)

  • Jaak Vilo

    (University of Tartu
    STACC)

  • Triin Laisk

    (University of Tartu)

  • Andres Metspalu

    (University of Tartu)

Abstract

Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date. What makes the biobank unique internationally is its translational focus, with active efforts to conduct clinical studies based on genetic findings, and to explore the effects of return of results on participants. In this review, we provide an overview of the Estonian Biobank, highlight its strengths for studying the effects of genetic variation and quantitative phenotypes on health-related traits, development of methods and frameworks for bringing genomics into the clinic, and its role as a driving force for implementing personalized medicine on a national level and beyond.

Suggested Citation

  • Lili Milani & Maris Alver & Sven Laur & Sulev Reisberg & Toomas Haller & Oliver Aasmets & Erik Abner & Helene Alavere & Annely Allik & Tarmo Annilo & Krista Fischer & Robin Hofmeister & Georgi Hudjash, 2025. "The Estonian Biobank’s journey from biobanking to personalized medicine," Nature Communications, Nature, vol. 16(1), pages 1-13, December.
  • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-58465-3
    DOI: 10.1038/s41467-025-58465-3
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-025-58465-3
    File Function: Abstract
    Download Restriction: no

    File URL: https://libkey.io/10.1038/s41467-025-58465-3?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Oliver Aasmets & Kertu Liis Krigul & Kreete Lüll & Andres Metspalu & Elin Org, 2022. "Gut metagenome associations with extensive digital health data in a volunteer-based Estonian microbiome cohort," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    2. Minna K. Karjalainen & Savita Karthikeyan & Clare Oliver-Williams & Eeva Sliz & Elias Allara & Wing Tung Fung & Praveen Surendran & Weihua Zhang & Pekka Jousilahti & Kati Kristiansson & Veikko Salomaa, 2024. "Genome-wide characterization of circulating metabolic biomarkers," Nature, Nature, vol. 628(8006), pages 130-138, April.
    3. Davide Marnetto & Katri Pärna & Kristi Läll & Ludovica Molinaro & Francesco Montinaro & Toomas Haller & Mait Metspalu & Reedik Mägi & Krista Fischer & Luca Pagani, 2020. "Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals," Nature Communications, Nature, vol. 11(1), pages 1-9, December.
    4. Clare Bycroft & Colin Freeman & Desislava Petkova & Gavin Band & Lloyd T. Elliott & Kevin Sharp & Allan Motyer & Damjan Vukcevic & Olivier Delaneau & Jared O’Connell & Adrian Cortes & Samantha Welsh &, 2018. "The UK Biobank resource with deep phenotyping and genomic data," Nature, Nature, vol. 562(7726), pages 203-209, October.
    5. Mitja I. Kurki & Juha Karjalainen & Priit Palta & Timo P. Sipilä & Kati Kristiansson & Kati M. Donner & Mary P. Reeve & Hannele Laivuori & Mervi Aavikko & Mari A. Kaunisto & Anu Loukola & Elisa Lahtel, 2023. "Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population," Nature, Nature, vol. 615(7952), pages 19-19, March.
    6. Kaido Lepik & Tarmo Annilo & Viktorija Kukuškina & eQTLGen Consortium & Kai Kisand & Zoltán Kutalik & Pärt Peterson & Hedi Peterson, 2017. "C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis," PLOS Computational Biology, Public Library of Science, vol. 13(9), pages 1-20, September.
    7. Alexander T. Williams & Jing Chen & Kayesha Coley & Chiara Batini & Abril Izquierdo & Richard Packer & Erik Abner & Stavroula Kanoni & David J. Shepherd & Robert C. Free & Edward J. Hollox & Nigel J. , 2023. "Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    8. Vasili Pankratov & Milyausha Yunusbaeva & Sergei Ryakhovsky & Maksym Zarodniuk & Bayazit Yunusbayev, 2022. "Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    9. Triin Laisk & Ana Luiza G. Soares & Teresa Ferreira & Jodie N. Painter & Jenny C. Censin & Samantha Laber & Jonas Bacelis & Chia-Yen Chen & Maarja Lepamets & Kuang Lin & Siyang Liu & Iona Y. Millwood , 2020. "The genetic architecture of sporadic and multiple consecutive miscarriage," Nature Communications, Nature, vol. 11(1), pages 1-12, December.
    10. Konrad J. Karczewski & Laurent C. Francioli & Grace Tiao & Beryl B. Cummings & Jessica Alföldi & Qingbo Wang & Ryan L. Collins & Kristen M. Laricchia & Andrea Ganna & Daniel P. Birnbaum & Laura D. Gau, 2020. "The mutational constraint spectrum quantified from variation in 141,456 humans," Nature, Nature, vol. 581(7809), pages 434-443, May.
    11. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 611(7934), pages 115-123, November.
    12. Johannes Kettunen & Ayşe Demirkan & Peter Würtz & Harmen H.M. Draisma & Toomas Haller & Rajesh Rawal & Anika Vaarhorst & Antti J. Kangas & Leo-Pekka Lyytikäinen & Matti Pirinen & René Pool & Antti-Pek, 2016. "Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA," Nature Communications, Nature, vol. 7(1), pages 1-9, September.
    13. Ewen Callaway, 2024. "Estonians gave their DNA to science — now they’re learning their genetic secrets," Nature, Nature, vol. 631(8019), pages 17-17, July.
    14. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 612(7938), pages 7-7, December.
    15. Mitja I. Kurki & Juha Karjalainen & Priit Palta & Timo P. Sipilä & Kati Kristiansson & Kati M. Donner & Mary P. Reeve & Hannele Laivuori & Mervi Aavikko & Mari A. Kaunisto & Anu Loukola & Elisa Lahtel, 2023. "FinnGen provides genetic insights from a well-phenotyped isolated population," Nature, Nature, vol. 613(7944), pages 508-518, January.
    16. Natàlia Pujol-Gualdo & Kristi Läll & Maarja Lepamets & Henna-Riikka Rossi & Riikka K. Arffman & Terhi T. Piltonen & Reedik Mägi & Triin Laisk, 2022. "Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Ruoyu Tian & Tian Ge & Hyeokmoon Kweon & Daniel B. Rocha & Max Lam & Jimmy Z. Liu & Kritika Singh & Daniel F. Levey & Joel Gelernter & Murray B. Stein & Ellen A. Tsai & Hailiang Huang & Christopher F., 2024. "Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
    2. Jonathan Mitchell & Niedzica Camacho & Patrick Shea & Konrad H. Stopsack & Vijai Joseph & Oliver S. Burren & Ryan S. Dhindsa & Abhishek Nag & Jacob E. Berchuck & Amanda O’Neill & Ali Abbasi & Anthony , 2025. "Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases," Nature Communications, Nature, vol. 16(1), pages 1-11, December.
    3. Dmitrii Usoltsev & Nikita Kolosov & Oxana Rotar & Alexander Loboda & Maria Boyarinova & Ekaterina Moguchaya & Ekaterina Kolesova & Anastasia Erina & Kristina Tolkunova & Valeriia Rezapova & Ivan Molot, 2024. "Complex trait susceptibilities and population diversity in a sample of 4,145 Russians," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    4. Jujiao Kang & Yue-Ting Deng & Bang-Sheng Wu & Wei-Shi Liu & Ze-Yu Li & Shitong Xiang & Liu Yang & Jia You & Xiaohong Gong & Tianye Jia & Jin-Tai Yu & Wei Cheng & Jianfeng Feng, 2024. "Whole exome sequencing analysis identifies genes for alcohol consumption," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    5. Andras Gezsi & Sandra Auwera & Hannu Mäkinen & Nora Eszlari & Gabor Hullam & Tamas Nagy & Sarah Bonk & Rubèn González-Colom & Xenia Gonda & Linda Garvert & Teemu Paajanen & Zsofia Gal & Kevin Kirchner, 2024. "Unique genetic and risk-factor profiles in clusters of major depressive disorder-related multimorbidity trajectories," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    6. Xiao-Yu He & Bang-Sheng Wu & Liu Yang & Yu Guo & Yue-Ting Deng & Ze-Yu Li & Chen-Jie Fei & Wei-Shi Liu & Yi-Jun Ge & Jujiao Kang & Jianfeng Feng & Wei Cheng & Qiang Dong & Jin-Tai Yu, 2024. "Genetic associations of protein-coding variants in venous thromboembolism," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
    7. Caitlin E. Carey & Rebecca Shafee & Robbee Wedow & Amanda Elliott & Duncan S. Palmer & John Compitello & Masahiro Kanai & Liam Abbott & Patrick Schultz & Konrad J. Karczewski & Samuel C. Bryant & Caro, 2024. "Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation," Nature Human Behaviour, Nature, vol. 8(8), pages 1599-1615, August.
    8. Shu-Yi Huang & Yi-Jun Ge & Peng Ren & Bang-Sheng Wu & Weikang Gong & Jing Du & Shi-Dong Chen & Ju-Jiao Kang & Qing Ma & Arun L. W. Bokde & Sylvane Desrivières & Hugh Garavan & Antoine Grigis & Herve L, 2025. "Genome-wide association study unravels mechanisms of brain glymphatic activity," Nature Communications, Nature, vol. 16(1), pages 1-17, December.
    9. Marta Alcalde-Herraiz & JunQing Xie & Danielle Newby & Clara Prats & Dipender Gill & María Gordillo-Marañón & Daniel Prieto-Alhambra & Martí Català & Albert Prats-Uribe, 2024. "Effect of genetically predicted sclerostin on cardiovascular biomarkers, risk factors, and disease outcomes," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
    10. Ichcha Manipur & Guillermo Reales & Jae Hoon Sul & Myung Kyun Shin & Simonne Longerich & Adrian Cortes & Chris Wallace, 2024. "CoPheScan: phenome-wide association studies accounting for linkage disequilibrium," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    11. Anand E. Rajesh & Abraham Olvera-Barrios & Alasdair N. Warwick & Yue Wu & Kelsey V. Stuart & Mahantesh I. Biradar & Chuin Ying Ung & Anthony P. Khawaja & Robert Luben & Paul J. Foster & Charles R. Cle, 2025. "Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology," Nature Communications, Nature, vol. 16(1), pages 1-14, December.
    12. Chamlee Cho & Beomsu Kim & Dan Say Kim & Mi Yeong Hwang & Injeong Shim & Minku Song & Yeong Chan Lee & Sang-Hyuk Jung & Sung Kweon Cho & Woong-Yang Park & Woojae Myung & Bong-Jo Kim & Ron Do & Hyon K., 2024. "Large-scale cross-ancestry genome-wide meta-analysis of serum urate," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    13. Sang‑Hyuk Jung & Haemin Kim & Young Mi Jung & Manu Shivakumar & Brenda Xiao & Jaeyoung Kim & Beomjin Jang & Jae-Seung Yun & Hong-Hee Won & Chan-Wook Park & Joong Shin Park & Jong Kwan Jun & Dokyoon Ki, 2025. "Healthy lifestyle reduces cardiovascular risk in women with genetic predisposition to hypertensive disorders of pregnancy," Nature Communications, Nature, vol. 16(1), pages 1-11, December.
    14. Juan Lorenzo Rodriguez-Flores & Shareef Khalid & Neelroop Parikshak & Asif Rasheed & Bin Ye & Manav Kapoor & Joshua Backman & Farshid Sepehrband & Silvio Alessandro Di Gioia & Sahar Gelfman & Tanima D, 2024. "NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    15. Hui Chen & Zeyang Wang & Lihai Gong & Qixuan Wang & Wenyan Chen & Jia Wang & Xuelian Ma & Ruofan Ding & Xing Li & Xudong Zou & Mireya Plass & Cheng Lian & Ting Ni & Gong-Hong Wei & Wei Li & Lin Deng &, 2024. "A distinct class of pan-cancer susceptibility genes revealed by an alternative polyadenylation transcriptome-wide association study," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    16. Michael Wainberg & Natalie J. Forde & Salim Mansour & Isabel Kerrebijn & Sarah E. Medland & Colin Hawco & Shreejoy J. Tripathy, 2024. "Genetic architecture of the structural connectome," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    17. Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
    18. Natalie DeForest & Yuqi Wang & Zhiyi Zhu & Jacqueline S. Dron & Ryan Koesterer & Pradeep Natarajan & Jason Flannick & Tiffany Amariuta & Gina M. Peloso & Amit R. Majithia, 2024. "Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    19. Nicole Deflaux & Margaret Sunitha Selvaraj & Henry Robert Condon & Kelsey Mayo & Sara Haidermota & Melissa A. Basford & Chris Lunt & Anthony A. Philippakis & Dan M. Roden & Joshua C. Denny & Anjene Mu, 2023. "Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
    20. Salim Megat & Christine Marques & Marina Hernán-Godoy & Chantal Sellier & Geoffrey Stuart-Lopez & Sylvie Dirrig-Grosch & Charlotte Gorin & Aurore Brunet & Mathieu Fischer & Céline Keime & Pascal Kessl, 2025. "CREB3 gain of function variants protect against ALS," Nature Communications, Nature, vol. 16(1), pages 1-17, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-58465-3. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.