From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

Lili A. Milani; Maris Alver; Sven Laur; Sulev Reisberg; Toomas Haller; Oliver Aasmets; Erik Abner; Helene Alavere; Annely Allik; Tarmo Annilo; Krista Fischer; Georgi Hudjashov; Maarja Jõeloo; Mart Kals; Liis Karo-Astover; Silva Kasela; Anastassia Kolde; Kristi Krebs; Kertu Liis Krigul; Jaanika Kronberg; Karoliina Kruusmaa; Viktorija Kukuškina; Kadri Kõiv; Kelli Lehto; Liis Leitsalu; Sirje Lind; Laura Birgit Luitva; Kristi Läll; Kreete Lüll; Kristjan Metsalu

doi:10.1101/2024.09.22.24313964

Genetic & Genomic MedicinemedRxivSep 22, 2024

Preprint

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

Lili A. Milani iD, Maris Alver iD, Sven Laur iD, Sulev Reisberg iD, Toomas Haller iD, Oliver Aasmets iD, Erik Abner iD, Helene Alavere iD, Annely Allik, Tarmo Annilo iD, Krista Fischer iD, Georgi Hudjashov iD, Maarja Jõeloo iD, Mart Kals iD, Liis Karo-Astover, Silva Kasela iD, Anastassia Kolde iD, Kristi Krebs iD, Kertu Liis Krigul iD, Jaanika Kronberg iD, Karoliina Kruusmaa, Viktorija Kukuškina, Kadri Kõiv iD, Kelli Lehto iD, Liis Leitsalu iD, , Andres Metspalu iD

Abstract

Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalised 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.

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