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Comment
. 2025 May 26;17(1):61.
doi: 10.1186/s13073-025-01491-z.

The case for including proteomics in routine diagnostic practice for rare disease

Affiliations
Comment

The case for including proteomics in routine diagnostic practice for rare disease

Elizabeth M McCormick. Genome Med. .

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.

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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

  • Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
    Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA. Hock DH, et al. 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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