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ABSTRACT: Background
Rare diseases are difficult to diagnose. Due to their rarity, heterogeneity, and variability, rare diseases often result not only in extensive diagnostic tests and imaging studies, but also in unnecessary repetitions of examinations, which places a greater overall burden on the healthcare system. Diagnostic decision support systems (DDSS) optimized by rare disease experts and used early by primary care physicians and specialists are able to significantly shorten diagnostic processes. The objective of this study was to evaluate reductions in diagnostic costs incurred in rare disease cases brought about by rapid referral to an expert and diagnostic decision support systems.Methods
Retrospectively, diagnostic costs from disease onset to diagnosis were analyzed in 78
SUBMITTER: Willmen T
PROVIDER: S-EPMC8431907 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature