A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
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.
Authors
- David A. Stroud (ORCID: https://orcid.org/0000-0002-2048-3383)
- Ilias Goranitis (ORCID: https://orcid.org/0000-0001-7946-8324)
- John Christodoulou (ORCID: https://orcid.org/0000-0002-8431-0641)
- David R. Thorburn (ORCID: https://orcid.org/0000-0002-7725-9470)
- Nicholas A. Williamson (ORCID: https://orcid.org/0000-0002-2173-3452)
- Ching‐Seng Ang (ORCID: https://orcid.org/0000-0001-7861-6719)
- Dylan Mordaunt (ORCID: https://orcid.org/0000-0002-9775-0603)
- Francisco Santos Gonzalez (ORCID: https://orcid.org/0000-0002-3043-0357)
- Daniella H. Hock (ORCID: https://orcid.org/0000-0002-6940-4420)
Institutions
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
- Melbourne Health (AU)
- Melbourne Genomics Health Alliance (AU)
- Victoria University (AU)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1186/s13023-024-03462-w
- Citations
- 6
- Primary Topic
- Advanced Proteomics Techniques and Applications
- Type
- article
- Field-Weighted Citation Impact
- 1.44
Funders
- Department of Health and Aged Care, Australian Government
- Melbourne Research, University of Melbourne