Observational studyDeutsches Arzteblatt international2022
The Interdisciplinary Diagnosis of Rare Diseases.
Observational study in Deutsches Arzteblatt international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.Scientific data · 2026Article
- Prevalence of depressive and anxiety symptoms among patients consulting a rare disease outpatient clinic for rare and undiagnosed diseases in China.Orphanet journal of rare diseases · 2026Article
- Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Nature communications · 2026Article
- Services for Patients with Rare Genetic Diseases in Germany.Journal of community genetics · 2026Review
- KLINSE: a comprehensive service model for rare disease information and care management support.Orphanet journal of rare diseases · 2026Article
- Achalasia: Physician Practices and Knowledge in Türkiye.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Article
- A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.European journal of pediatric surgery reports · 2026Article
- A decision tree-based algorithm for structured risk stratification of rare rheumatic diseases in a tertiary referral setting.Frontiers in medicine · 2026Article
- An intelligent healthcare system for rare disease diagnosis utilizing electronic health records based on a knowledge-guided multimodal transformer framework.BioData mining · 2025Article
- Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.International journal of molecular sciences · 2025Review
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- 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
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.International journal of molecular sciences · 2024Review
- Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.International journal of molecular sciences · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- [Rare diseases in anesthesia : Knowledge mining and core points of perioperative anesthesiological care].Die Anaesthesiologie · 2023Article
- [Next-generation phenotyping in rare diseases with facial dysmorphism].Innere Medizin (Heidelberg, Germany) · 2023Review
- Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.EClinicalMedicine · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs).
methodsAs part of the joint Translate-NAMSE project, sponsored by the G-BA Innovation Fund (G-BA, German Federal Joint Committee), we investigated the performance of RDCs in establishing the diagnosis of patients suspected to have a rare disease. The results of interdisciplinary case conferences and of exome diagnostic tests were analyzed in a prospective, multicenter observational study.
resultsA total of 5652 patients (of whom 3619 were under 18 years old, and 2033 were at least 18 years old) from 10 RDCs who did not yet have a definitive diagnosis of a rare disease were included in the study. On average, those who were under 18 years old had been symptomatic for 4.5 years without receiving a diagnosis in a standard care setting; the analogous figure for adult patients was 8.2 years. Over the course of this project (2017-2021), 1682 patients (30%) received a definitive diagnosis. 193 had a common disease, 88 had a psychosomatic disease (only in patients who were at least 18 years old), and 1401 had a rare disease. 14 850 case conferences were conducted. 1599 exome analyses led to 506 definitive genetic diagnoses (32%).
conclusionA diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
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