一项基于质谱的定量蛋白质组学测试的微成本研究,应用于线粒体和其他罕见疾病的诊断管道
Francisco Santos Gonzalez1,2, Daniella H Hock3, David R Thorburn2,4,5
1Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, 207-221 Bouverie St., Parkville, Melbourne, VIC, 3010, Australia.
Orphanet journal of rare diseases
|November 29, 2024
概括
基于质谱的蛋白质组学为线粒体疾病提供了具有成本效益的诊断方法. 简化工作流程和自动化分析可以显著降低每名患者的总体成本,使其成为传统方法的可行替代方案.
科学领域:
- 生物化学 生化学
- 临床诊断 临床诊断 临床诊断
- 蛋白质组学是指蛋白质组学.
背景情况:
- 基于质谱的定量蛋白质组学有助于诊断线粒体疾病 (MDs) 和罕见疾病.
- 准确的成本估计对于蛋白质组学的临床采用至关重要.
- 分析了资源利用和单位成本 (消耗品,设备,劳动力).
研究的目的:
- 估计用于常规临床实践的蛋白质组学测试的交付成本.
- 识别关键成本驱动因素并评估参数不确定性.
主要方法:
- 资源使用和单位成本被测量和分类.
- 综合成本以确定每名患者的AUD (2023) 的总成本.
- 进行了概率和确定性灵敏度分析.
主要成果:
- 蛋白质组学测试的平均成本为每名患者897美元 (607美元).
- 劳动力占总成本的53%.
- 液体染色学结合联质谱 (LC-MS/MS) 是最昂贵的非工资组成部分,每名患者342美元 (约合228美元).
结论:
- 蛋白质组学测试是澳大利亚MD的呼吸链酶学的低成本,更广泛的应用替代方案.
- 简化和自动化工作流可以降低劳动力成本.
- 使用外周血液单核细胞 (PBMC) 可能提供比纤维细胞更具成本效益的样本类型.
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