A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
Abstract Background 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 esti...
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2024-11-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03462-w |
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| author | Francisco Santos Gonzalez Daniella H. Hock David R. Thorburn Dylan Mordaunt Nicholas A. Williamson Ching-Seng Ang David A. Stroud John Christodoulou Ilias Goranitis |
| author_facet | Francisco Santos Gonzalez Daniella H. Hock David R. Thorburn Dylan Mordaunt Nicholas A. Williamson Ching-Seng Ang David A. Stroud John Christodoulou Ilias Goranitis |
| author_sort | Francisco Santos Gonzalez |
| collection | DOAJ |
| description | Abstract Background 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. Results 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. Conclusions 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. |
| format | Article |
| id | doaj-art-470c8a53592f4a88baa7acba4e6aac48 |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-470c8a53592f4a88baa7acba4e6aac482025-08-20T02:38:35ZengBMCOrphanet Journal of Rare Diseases1750-11722024-11-0119111010.1186/s13023-024-03462-wA micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disordersFrancisco Santos Gonzalez0Daniella H. Hock1David R. Thorburn2Dylan Mordaunt3Nicholas A. Williamson4Ching-Seng Ang5David A. Stroud6John Christodoulou7Ilias Goranitis8Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of MelbourneDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of MelbourneMurdoch Children’s Research Institute, Royal Children’s HospitalEconomics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of MelbourneMelbourne Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science & Biotechnology Institute, The University of MelbourneMelbourne Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science & Biotechnology Institute, The University of MelbourneMurdoch Children’s Research Institute, Royal Children’s HospitalMurdoch Children’s Research Institute, Royal Children’s HospitalEconomics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of MelbourneAbstract Background 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. Results 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. Conclusions 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.https://doi.org/10.1186/s13023-024-03462-wProteomicsMitochondrial disordersMicro-costingFunctional genomicsHealth economics |
| spellingShingle | Francisco Santos Gonzalez Daniella H. Hock David R. Thorburn Dylan Mordaunt Nicholas A. Williamson Ching-Seng Ang David A. Stroud John Christodoulou Ilias Goranitis A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders Orphanet Journal of Rare Diseases Proteomics Mitochondrial disorders Micro-costing Functional genomics Health economics |
| title | A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| title_full | A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| title_fullStr | A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| title_full_unstemmed | A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| title_short | A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| title_sort | micro costing study of mass spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders |
| topic | Proteomics Mitochondrial disorders Micro-costing Functional genomics Health economics |
| url | https://doi.org/10.1186/s13023-024-03462-w |
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