使用电子健康记录数据发现生物标志物的机遇和挑战
P Singhal1, A L M Tan2, T G Drivas3
1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Trends in molecular medicine
|July 20, 2023
概括
电子健康记录 (EHR) 为复杂疾病中的生物标志物发现提供了重大潜力. 本综述分析了用于表型和生物标志物识别的EHR数据使用情况,解决当前的挑战和未来的战略.
科学领域:
- 生物医学研究生物医学研究
- 医疗信息学 医疗信息学
- 基因组学和精准医学精准医学
背景情况:
- 电子健康记录 (EHR) 越来越多地用于生物医学研究,特别是在复杂的条件下识别生物标志物.
- 电子健康数据的主要设计是用于临床护理,而不是研究,这给数据提取和分析带来了固有的挑战.
- 尽管存在局限性,但电子健康记录对促进疾病病因学理解和精准医学提供信息具有重大前景.
研究的目的:
- 审查EHR数据在表型和分子生物标志物识别中的当前应用.
- 批判性地分析与使用EHR用于研究相关的挑战和局限性.
- 提出克服这些障碍的策略,并最大限度地发挥电子健康记录在生物标志物发现方面的潜力.
主要方法:
- 用EHR数据用于表型和生物标志物发现的研究的文献综述.
- 分析用于用于提取和解释EHR数据用于研究目的的方法.
- 检查在EHR数据质量,标准化和可访问性方面存在的挑战.
主要成果:
- 电子心脏病记录数据对于识别患者状态和分子生物标志物,特别是复杂疾病的数据非常有价值.
- 存在重大挑战,包括数据异质性,缺少的信息,以及需要强大的表型算法.
- 目前正在开发各种策略,如数据标准化,高级分析和协作努力,以减轻这些问题.
结论:
- 利用EHR数据用于生物标志物发现对于推进精准医学和了解疾病至关重要.
- 解决数据质量,互操作性和分析挑战对于实现研究中电子健康记录的全部潜力至关重要.
- 未来的研究应该专注于开发和实施用于生物标志物识别的电子健康记录数据利用的标准化方法.
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