Economics 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.
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.
Orphanet J Rare Dis. 2024 Nov 29;19(1):443. doi: 10.1186/s13023-024-03462-w.
Mass spectrometry-based quantitative proteomics has a demonstrated utility in increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases. However, for this technology to be widely adopted in routine clinical practice, it is crucial to accurately estimate delivery costs. Resource use and unit costs required to undertake a proteomics test were measured and categorized into consumables, equipment, and labor. Unit costs were aggregated to obtain a total cost per patient, reported in 2023 Australian dollars (AUD). Probabilistic and deterministic sensitivity analysis were conducted to evaluate parameter uncertainty and identify key cost drivers.
The mean cost of a proteomics test was $897 (US$ 607) per patient (95% CI: $734-$1,111). Labor comprised 53% of the total costs. At $342 (US$ 228) per patient, liquid chromatography coupled tandem mass spectrometry (LC-MS/MS) was the most expensive non-salary component. An integrated analysis pipeline where all the standard analysis are performed automatically, as well as discounts or subsidized LC-MS/MS equipment or consumables can lower the cost per test.
Proteomics testing provide a lower-cost option and wider application compared to respiratory chain enzymology for mitochondrial disorders and potentially other functional assays in Australia. Our analysis suggests that streamlining and automating workflows can reduce labor costs. Using PBMC samples may be a cheaper and more efficient alternative to generating fibroblasts, although their use has not been extensively tested yet. Use of fibroblasts could potentially lower costs when fibroblasts are already available by avoiding the expense of isolating PBMCs. A joint evaluation of the health and economic implications of proteomics is now needed to support its introduction to routine clinical care.
基于质谱的定量蛋白质组学在提高线粒体疾病（MDs）和其他罕见疾病的诊断产量方面具有明显的作用。然而，为了使这项技术在常规临床实践中得到广泛应用，准确估计交付成本至关重要。本研究测量并分类了进行蛋白质组学测试所需的资源利用和单位成本，分为耗材、设备和劳动力。汇总单位成本以获得每位患者的总成本，以 2023 年澳元（AUD）报告。进行了概率和确定性敏感性分析，以评估参数不确定性并确定关键成本驱动因素。
蛋白质组学测试的平均每位患者成本为 897 澳元（US$607）（95%CI：734-1,111）。劳动力占总成本的 53%。液质联用（LC-MS/MS）作为最昂贵的非工资成本，每位患者 342 澳元（US$228）。如果采用集成分析流水线，所有标准分析都可以自动进行，或者如果可以获得折扣或补贴的 LC-MS/MS 设备或耗材，那么可以降低每次测试的成本。
与澳大利亚的线粒体疾病呼吸链酶学或其他潜在的功能测定相比，蛋白质组学检测提供了一种成本更低、应用更广泛的选择。我们的分析表明，简化和自动化工作流程可以降低劳动力成本。使用 PBMC 样本可能比生成成纤维细胞更便宜、更有效，尽管它们的使用尚未得到广泛测试。如果已经有现成的成纤维细胞，那么使用成纤维细胞可以避免分离 PBMC 的费用，从而降低成本。现在需要对蛋白质组学的健康和经济影响进行联合评估，以支持其引入常规临床护理。
