The case for including proteomics in routine diagnostic practice for rare disease
- PMID: 40420250
- PMCID: PMC12107797
- DOI: 10.1186/s13073-025-01491-z
The case for including proteomics in routine diagnostic practice for rare disease
Abstract
Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic diagnosis. Promising technologies including proteomics are underutilized in routine diagnostic practice. It is time to incorporate proteomics into the diagnostic workflow to shorten time to diagnosis and expand treatment options for rare disease.
Keywords: Diagnostic practice; Precision medicine; Proteomics; Rare disease; Undiagnosed disease.
© 2025. The Author(s).
Conflict of interest statement
Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests.
Comment on
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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z. Genome Med. 2025. PMID: 40400026 Free PMC article.
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