ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed.
- The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project.European journal of human genetics : EJHG · 2023Trial
- 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
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Drug-disease interactions in inflammation: mechanisms, clinical Impact, and future directions.Inflammopharmacology · 2026Review
- Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.Orphanet journal of rare diseases · 2026Article
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 2026Article
- Descriptive Temporal Epidemiology of Tularemia Using Case Reports and Hospitalization Data in the United States, 2000-2022.Pathogens (Basel, Switzerland) · 2026Article
- Common features of rare disease patients in the emergency department: a systematised literature review.Orphanet journal of rare diseases · 2025Review
- Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.Orphanet journal of rare diseases · 2025Article
- Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records.Scientific reports · 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
- Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland.Scientific reports · 2025Article
- Exploring network relations between healthcare access and utilisation in individuals with rare diseases.Public health in practice (Oxford, England) · 2025Article
- A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.Communications medicine · 2025Review
- Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.International journal of molecular sciences · 2025Article
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe vast majority of rare diseases (RDs) are complex, disabling, and life-threatening conditions with a genetic origin. RD patients face significant health challenges and limited treatments, yet the extent of their impact within health care is not well known. One direct method to gauge the disease burden of RDs is their overall cost and utilization within health-care systems.
methodsThe 2016 Healthcare Cost and Utilization Project (HCUP) databases were used to extract health-care utilization data using International Classification of Diseases, Tenth Revision (ICD-10) codes.
resultsOf 35.6 million national hospital weighted discharges in the HCUP Nationwide Inpatient Sample, 32% corresponded to RD-associated ICD-10 codes. Total charges were nearly equal between RDs ($768 billion) compared to common conditions (CCs) ($880 billion) (p < 0.0001). These charges were a result of higher charges per discharge and longer length of stay (LOS) for RD patients compared to those with CCs (p < 0.0001). Health-care cost and utilization was similarly higher for RDs with pediatric inpatient stays, readmissions, and emergency visits.
conclusionPediatric and adult discharges with RDs show substantially higher health-care utilization compared to discharges with CCs diagnoses, accounting for nearly half of the US national bill.
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