ArticleBMC health services research2021
Health economic benefits through the use of diagnostic support systems and expert knowledge.
Article in BMC health services research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Economic evaluation of a digital symptom checker for endometriosis using a Markov decision process model.NPJ digital medicine · 2026Article
- "Listening to the word autism changes everything": the impact of an Autism Spectrum disorder diagnosis on families.Frontiers in psychology · 2026Article
- Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.Annals of medicine · 2025Article
- Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Neglect, Recklessness, and Deliberate Indifference in the Face of a Serious Neurosurgical Pathology: Lessons From the Tragic Fate of Prisoner Elliot Earl Williams.Annals of surgery open : perspectives of surgical history, education, and clinical approaches · 2025Article
- The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.The Lancet regional health. Western Pacific · 2025Article
- The economic burden of diagnostic uncertainty on rare disease patients.BMC health services research · 2024Article
- The transition from genomics to phenomics in personalized population health.Nature reviews. Genetics · 2024Review
- [Faster diagnosis of rare diseases with artificial intelligence-A precept of ethics, economy and quality of life].Innere Medizin (Heidelberg, Germany) · 2023Review
- The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.Cureus · 2023Review
- Rare diseases: why is a rapid referral to an expert center so important?BMC health services research · 2023Article
- Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study.The Lancet regional health. Western Pacific · 2023Article
- The Impact of Artificial Intelligence in the Odyssey of Rare Diseases.Biomedicines · 2023Review
- Neuroimaging based biotypes for precision diagnosis and prognosis in cancer-related cognitive impairment.Frontiers in medicine · 2023Review
- Surfacing undiagnosed disease: consideration, counting and coding.Frontiers in pediatrics · 2023Review
- Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale.Journal of medical Internet research · 2022Review
- Deep Learning Paradigm for Cardiovascular Disease/Stroke Risk Stratification in Parkinson's Disease Affected by COVID-19: A Narrative Review.Diagnostics (Basel, Switzerland) · 2022Review
- Investigating the Potential for Clinical Decision Support in Sub-Saharan Africa With AFYA (Artificial Intelligence-Based Assessment of Health Symptoms in Tanzania): Protocol for a Prospective, Observational Pilot Study.JMIR research protocols · 2022Article
- Comment on "Accuracy and usability of a diagnostic decision support system in the diagnosis of three representative rheumatic diseases: a randomized controlled trial among medical students".Arthritis research & therapy · 2022Article
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Authors and funding
7 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRare 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.
methodsRetrospectively, diagnostic costs from disease onset to diagnosis were analyzed in 78 patient cases from the outpatient clinic for rare inflammatory systemic diseases at Hannover Medical School. From the onset of the first symptoms, all diagnostic measures related to the disease were taken from the patient files and documented for each day. The basis for the health economic calculations was the Einheitlicher Bewertungsmaßstab (EBM) used in Germany for statutory health insurance, which assigns a fixed flat rate to the various medical services. For 76 cases we also calculated the cost savings that would have been achieved by the diagnosis support system Ada DX applied by an expert.
resultsThe expert was able to achieve significant savings for patients with long courses of disease. On average, the expert needed only 27 % of the total costs incurred in the individual treatment odysseys to make the correct diagnosis. The expert also needed significantly less time and avoided unnecessary examination repetitions. If a DDSS had been applied early in the 76 cases studied, only 51-68 % of the total costs would have incurred and the diagnosis would have been made earlier. Earlier diagnosis would have significantly reduced costs.
conclusionThe study showed that significant savings in the diagnostic process of rare diseases can be achieved through rapid referral to an expert and the use of DDSS. Faster diagnosis not only achieves savings, but also enables the right therapy and thus an increase in the quality of life for patients.
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