ArticlePloS one2017
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed.
- Deep learning models detect neuromuscular disease and quantify functional impairment from video-derived biomechanics data.bioRxiv : the preprint server for biology · 2026Article
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain.Orphanet journal of rare diseases · 2026Article
- Diagnostic performance of Prof. Valmed, ChatGPT-5 Thinking, and OpenEvidence in rheumatology: A comparative evaluation.Rheumatology international · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
- Sources and consequences of self-doubt in patients with Ehlers-Danlos syndrome: a qualitative study in Europe and North America.BMJ open · 2025Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
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- Evaluating the Prototype of a Clinical Decision Support System in Primary Care: Qualitative Study.JMIR formative research · 2025Article
- Mainstreaming genomics in the National Health Service in England: a survey to understand preparedness and confidence among paediatricians.BMJ paediatrics open · 2025Article
- Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.Nature communications · 2025Article
- Article
- Feasibility of the development and psychometric properties of a standardized screening instrument for mental disorders in patients with suspected rare diseases: results of the ZSE-DUO study.Frontiers in psychiatry · 2025Article
- Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.Journal of inherited metabolic disease · 2025Article
- Article
- Patient-Oriented Questionnaires and Machine Learning for Rare Disease Diagnosis: A Systematic Review.Journal of clinical medicine · 2024Review
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Development of orphan drugs for rare diseases.Clinical and experimental pediatrics · 2024Article
- Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).bioRxiv : the preprint server for biology · 2024Article
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12 authors.
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Abstract
backgroundWorldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.
methodsA two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected.
results166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe's disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an 'odyssey' of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed.
conclusionThere is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for diagnostic support in the future.
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