价格:为罕见疾病诊断提供个性化的递归智能成本效益分析框架
Mengshu Nie1, Yujing Yao2, Junyoung Kim1
1Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
BMC medical informatics and decision making
|November 27, 2025
概括
价格分析框架为罕见疾病诊断的成本效益提供了个性化的方法,整合了人工智能以实现动态决策和改善患者结果.
科学领域:
- 医疗信息学 医疗信息学
- 卫生经济学 卫生经济学
- 罕见疾病研究 罕见疾病研究
背景情况:
- 罕见疾病的诊断是复杂的,漫长的,昂贵的.
- 目前的成本效益分析使用不同患者群体的静态模型.
- 需要有动态的,个性化的诊断成本效益框架,特别是随着人工智能的进步.
研究的目的:
- 介绍PRICE (个性化递归综合性成本效益) 分析框架.
- 开发一个动态模型来评估诊断策略的成本效益在个体患者的水平.
- 将人工智能 (AI) 整合到诊断决策框架中.
主要方法:
- 使用一种新的,基于树的模型 (PRICE) 来进行成本效益评估.
- 集成的专家独家和人工智能委托的决策模式.
- 采用反向传播算法来计算预期成本和质量调整寿命年 (QALYs) 来量化有效性.
主要成果:
- 在发展迟缓 (DD) 和多重先天性异常 (MCA) 的概念验证研究中证明了PRICE框架的实用性.
- 展示了PRICE通过模拟不同参数 (成本,流行率,AI准确性) 的结果来支持个性化决策的能力.
- 开发了一个基于Web的交互工具,用于实时PRICE路径构建和成本效益分析.
结论:
- 价格是一个新的框架,可以捕捉连续的,递归的诊断工作流.
- 该框架可用于未来的AI集成临床实践.
- 能够进行个性化的经济和临床评估,以改善罕见病诊断决策.
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