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Biobank for Translational Medicine: Standard Operating Procedures for Optimal Sample Management
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Electronic Health Record-Linked Biobank Expansion Reveals Global Health Inequities
Manuel Corpas1,2,3,4, Oyesola Ojewunmi5,6, Heinner Guio7,8
1Cambridge Precision Medicine, London, United Kingdom.
Annual Review of Biomedical Data Science
|March 9, 2026
Summary
Electronic health record (EHR)-linked biobanks are valuable for research, but their publications often neglect high-priority global diseases like malaria and tuberculosis. This study analyzes five major biobanks to highlight research gaps.
Area of Science:
- Biomedical Research
- Bioinformatics
- Public Health
Background:
- Electronic health record (EHR)-linked biobanks integrate genomic, clinical, and phenotypic data for large-scale studies.
- The proliferation of these biobanks raises questions about their alignment with global health priorities.
- Five major EHR-linked biobanks were selected for comprehensive review: UK Biobank, Million Veteran Program, FinnGen, All of Us Research Program, and Estonian Biobank.
Purpose of the Study:
- To review the research outputs of five major EHR-linked biobanks.
- To assess the alignment of biobank research with global disease burden priorities.
- To identify underrepresented disease areas in biobank research.
Main Methods:
- A systematic review of 14,142 peer-reviewed publications from 2000 to 2024 linked to the five selected biobanks.
- Thematic profiling of each biobank's publication output based on institutional mandates, population focus, and design.
- Mapping biobank publications to 25 high-priority disease areas using World Health Organization disability-adjusted life years (DALYs) data.
Main Results:
- Each EHR-linked biobank exhibits a distinct thematic research profile.
- Significant underrepresentation of high-priority global diseases, including malaria, tuberculosis, and diarrheal diseases, was observed in biobank research output.
- Burden-adjusted gap scores and opportunity indices revealed disparities between biobank research focus and global disease burden.
Conclusions:
- EHR-linked biobanks have unique research trajectories influenced by their design and focus.
- Current biobank research output does not adequately reflect global disease burden, particularly for infectious and neglected tropical diseases.
- There is a critical need to align biobank research priorities with global health challenges to maximize their impact.
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