The cost of the diagnostic odyssey of patients with suspected rare diseases

The diagnostic odyssey of patients with suspected rare diseases is associated with extensive healthcare utilization and high cost. Against this background, new ways to shorten the diagnostic journey have a high potential to decrease the financial burden related to rare diseases.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-05-10
DOI
https://doi.org/10.1186/s13023-025-03751-y
Citations
9
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
16.36

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article

The cost of the diagnostic odyssey of patients with suspected rare diseases

Ursula Marschall, Rick Glaubitz, Gabriele Müller, Falko Tesch et al.
9 citations
Orphanet Journal of Rare Diseases
Genomics and Rare Diseases
16.36
article

The cost of the diagnostic odyssey of patients with suspected rare diseases

Ursula Marschall, Rick Glaubitz, Gabriele Müller, Falko Tesch, Martin Seifert, Luise Heinrich, Jochen Schmitt, Katrin Christiane Reber
article en
9 citations

Abstract

The diagnostic odyssey of patients with suspected rare diseases is associated with extensive healthcare utilization and high cost. Against this background, new ways to shorten the diagnostic journey have a high potential to decrease the financial burden related to rare diseases.

Orphanet Journal of Rare DiseasesVol. 20(1)
BARMER GEK (DE), University Hospital Carl Gustav Carus (DE), Technische Universität Dresden (DE)
Technische Universität Dresden
Openalex Percentile: Top 1%
Genomics and Rare Diseases
16.36
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