ArticleOrphanet journal of rare diseases2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 36 citations in OpenAlex.
- Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.Neurology · 2026Article
- Assessing rare disease understanding: a novel disease readiness level framework.Orphanet journal of rare diseases · 2025Article
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.European journal of pediatrics · 2025Article
- Does Education Design Matter? Evaluating an Evidence-Based Continuing Education Intervention on Genomic Testing for Primary Care; a Pre-Test Post-Test Study.Journal of CME · 2025Article
- Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.NPJ genomic medicine · 2024Article
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.ERJ open research · 2024Article
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The transition from genomics to phenomics in personalized population health.Nature reviews. Genetics · 2024Review
- Exploring the impact and utility of genomic sequencing in established CKD.Clinical kidney journal · 2024Review
- Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult.Cureus · 2024Article
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Orphanet journal of rare diseases · 2023Review
- NovelMolecular syndromology · 2023Article
- Article
- Ensuring timely genetic diagnosis in adults.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2023Article
- The Diagnostic Odyssey of Patients with Chronic Neuropathic Pain-Expert Opinion of Greek Pain Specialists.Clinics and practice · 2023Review
- Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders-an important consideration for resource-constrained settings.Frontiers in genetics · 2023Review
- Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.Therapeutic advances in rare diseaseReview
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Authors and funding
21 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report the five-year results of our multidisciplinary approach in rare disease diagnostics.
methodsPatients referred by a healthcare provider, in which an underlying rare disease is likely, qualify for a UD-PrOZA evaluation. UD-PrOZA uses a multidisciplinary clinical approach combined with state-of-the-art genomic technologies in close collaboration with research facilities to diagnose patients.
resultsBetween 2015 and 2020, 692 patients (94% adults) were referred of which 329 (48%) were accepted for evaluation. In 18% (60 of 329) of the cases a definite diagnosis was made. 88% (53 of 60) of the established diagnoses had a genetic origin. 65% (39 of 60) of the genetic diagnoses were made through whole exome sequencing (WES). The mean time interval between symptom-onset and diagnosis was 19 years. Key observations included novel genotype-phenotype correlations, new variants in known disease genes and the identification of three new disease genes. In 13% (7 of 53), identifying the molecular cause was associated with therapeutic recommendations and in 88% (53 of 60), gene specific genetic counseling was made possible. Actionable secondary findings were reported in 7% (12 of 177) of the patients in which WES was performed.
conclusionUD-PrOZA offers an innovative interdisciplinary platform to diagnose rare diseases in adults with previously unexplained medical problems and to facilitate translational research.
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