电子健康记录链接生物库的扩张揭示了全球健康不平等
Manuel Corpas1,2,3,4, Oyesola Ojewunmi5, Heinner Guio6,7
11School of Life Sciences, University of Westminster, London, United Kingdom;
Annual review of biomedical data science
|March 9, 2026
概括
电子健康记录 (EHR) 相关的生物库对研究有价值,但他们的出版物往往忽略了诸如疟疾和结核病等高优先级的全球疾病. 这项研究分析了五个主要的生物库,以突出研究差距.
科学领域:
- 生物医学研究生物医学研究
- 生物信息学是一种生物信息学.
- 公共卫生 公共卫生
背景情况:
- 电子健康记录 (EHR) 链接的生物库集成基因组,临床和表型数据进行大规模研究.
- 这些生物库的扩散引发了关于它们与全球卫生优先事项的协调的问题.
- 五个主要的与EHR相关的生物库被选中进行全面审查:英国生物库,百万退伍军人计划,FinnGen,我们所有人的研究计划和爱沙尼亚生物库.
研究的目的:
- 审查五个主要的与EHR相关的生物库的研究成果.
- 评估生物库研究与全球疾病负担优先事项的协调程度.
- 在生物库研究中识别代表性不足的疾病领域.
主要方法:
- 从2000年到2024年,对14142篇同行评审的出版物进行了系统审查,这些出版物与五个选定的生物库有关.
- 基于机构任务,人口重点和设计,对每个生物库的出版成果进行主题分析.
- 用世界卫生组织的残疾调整寿命年 (DALYs) 数据将生物库的出版物映射到25个优先级疾病领域.
主要成果:
- 每个与EHR相关的生物库都具有独特的主题研究概况.
- 在生物库研究成果中,全球重点疾病 (包括疟疾,结核病和腹疾病) 的代表性显著不足.
- 负担调整后的差距得分和机会指数揭示了生物银行研究重点和全球疾病负担之间的差异.
结论:
- 与EHR相关的生物库具有独特的研究轨迹,受其设计和重点的影响.
- 目前生物库的研究成果没有充分反映全球疾病负担,特别是传染病和被忽视的热带疾病.
- 迫切需要将生物银行研究重点与全球卫生挑战保持一致,以最大限度地发挥其影响.
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