为临床实践共享基因组序列数据:一个范围审查.
Elias Crum1, Ruben Taelman2, Bart Buelens3
1Flemish Institute for Technological Research (VITO), Technologiehuis, Industriezone Vlasmeer 5, 2400 Mol, Belgium; IDLab, Department of Electronics and Information Systems, Ghent University - imec, Technologiepark-Zwijnaarde 122, Floor 7, 9052 Gent, Belgium.
Computers in biology and medicine
|December 2, 2025
概括
分享患者基因组数据对于基因组医学至关重要. 目前的方法存在,但面临着可扩展性和基础设施挑战,阻碍了广泛采用,并要求统一的标准进步.
科学领域:
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
- 医疗信息学 医疗信息学
背景情况:
- 基因组医学的扩展受到患者基因组数据共享的困难所阻碍.
- 现有的基因组数据共享方法,基础设施和指导方针需要全面评估.
- 纳入来自国家倡议和行业的见解对于广泛的相关性至关重要.
研究的目的:
- 评估当前的基因组数据共享方法,基础设施和指南.
- 识别基因组数据共享的挑战和障碍.
- 促进可操作的标准和基因组数据共享的未来方向.
主要方法:
- 使用了一个范围审查框架 (Arksey & O'Malley).
- 分析包括同行评审的文章,灰色文献,国家基因组学倡议和企业战略.
- 数据根据临床护理,研究,国家倡议和企业背景进行分类.
主要成果:
- 确定了55项研究,15项临床共享实施方案,9项研究框架和13项伦理/法律指南.
- 对57个国家基因组计划和20家基因组公司的分析显示,现有实施方案但可扩展性有限.
- 确定的主要挑战包括可扩展性,基础设施差异 (临床与研究) 和基因组医学成熟度.
结论:
- 临床基因组数据共享实施方案已经存在,但由于可扩展性问题,尚未得到广泛采用.
- 解决基础设施差距和推进基因组医学成熟度对于进步至关重要.
- 四个建议步骤旨在促进对基因组数据共享的统一方法,并催化创新.
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