ArticleOrphanet journal of rare diseases2021
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.Orphanet journal of rare diseases · 2024Pooled it
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy Council.Orphanet journal of rare diseases · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis.medRxiv : the preprint server for health sciences · 2026Article
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States.ClinicoEconomics and outcomes research : CEOR · 2026Article
- Characterization of Treatment Utilization in a Metabolic Genetics Clinic.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2025Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia.American journal of hematology · 2025Article
- Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.Genome medicine · 2025Article
- A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.American journal of human genetics · 2025Article
- Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.Orphanet journal of rare diseases · 2025Article
- Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.Orphanet journal of rare diseases · 2025Article
- Reflection on clinical and methodological issues in rare disease clinical trials.Orphanet journal of rare diseases · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.Pediatric neurology · 2025Article
- Genetic models of Cushing's disease : From cells, in vivo transgenic models to human pituitary organoids.Pituitary · 2025Review
- Review
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRare diseases (RD) are a diverse collection of more than 7-10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS). METHODOLOGY: We performed a pilot IDeaS study, where we attempted to quantify the number of RD patients and the direct medical costs of 14 representative RD within 4 different HCS databases and performed a preliminary analysis of the diagnostic journey for selected RD patients.
resultsThe overall findings were notable for: (1) RD patients are difficult to quantify in HCS using ICD coding search criteria, which likely results in under-counting and under-estimation of their true impact to HCS; (2) per patient direct medical costs of RD are high, estimated to be around three-fivefold higher than age-matched controls; and (3) preliminary evidence shows that diagnostic journeys are likely prolonged in many patients, and may result in progressive, irreversible, and costly complications of their disease
conclusionsThe results of this small pilot suggest that RD have high medical burdens to patients and HCS, and collectively represent a major impact to the public health. Machine-learning strategies applied to HCS databases and medical records using sentinel disease and patient characteristics may hold promise for faster and more accurate diagnosis for many RD patients and should be explored to help address the high unmet medical needs of RD patients.
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