多基因风险评分分析临床转化方面的挑战:系统性审查
Diana Martínez-Minguet1, René Noel2, Alberto G Simón1
1PROS Group, Valencian Research Institute for Artificial Intelligence (VRAIN), Universitat Politècnica de València, Camí de Vera, València, Spain.
概括
在临床实践中实施多基因风险评分 (PRS) 分析面临挑战. 本次审查确定了关键障碍和解决方案,以指导PRS在医疗保健中的整合.
科学领域:
- 基因组学和精准医学精准医学
- 临床生物信息学 临床生物信息学
- 翻译研究是翻译研究.
背景情况:
- 多基因风险评分 (PRS) 分析在临床实践中越来越多地被认为具有潜力.
- 然而,重大实施障碍阻碍了整个医疗保健系统的广泛采用.
- 关于这些障碍的现有研究是分散的,需要进行全面的综合.
研究的目的:
- 在临床实践中系统地识别,分类和综合多基因风险评分 (PRS) 分析的实施挑战.
- 从现有文献中绘制出拟议的解决方案及其验证.
- 提供结构化的概述,以指导未来的研究和临床整合努力.
主要方法:
- 根据PRISMA指南进行了系统的文献审查.
- 在PubMed,Scopus和Web of Science数据库 (2020-2025) 中进行了搜索.
- 包括的研究分析了已识别的挑战,建议的解决方案和验证数据,并对挑战进行了分类.
主要成果:
- 包括54项研究,确定了8个主要挑战类别.
- 其中包括PRS模型报告中的异质性,选择复杂性,技术障碍以及缺乏指导方针/工作流.
- 在解决这些已识别的挑战方面,研究努力和清晰度不均.
结论:
- 本综述提供了PRS实施挑战和相关解决方案的结构化目录.
- 仍然存在显著的差距,特别是在需要协调研究努力的领域.
- 将PRS有效和负责任地整合到临床护理中,需要解决这些已识别的缺口.
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