ArticleOrphanet journal of rare diseases2022
The national economic burden of rare disease in the United States in 2019.
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 113 papers.
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Who cites it
113 citing papers in PubMed.
- Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study.PLOS digital health · 2026Article
- From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.FEBS open bio · 2026Article
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- Advancing Lost Productivity Measurement in Economic Evaluations: Evidence Priorities from a Targeted Literature Review and Expert Workshop.PharmacoEconomics - open · 2026Review
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Characterizing and quantifying disease impacts of generalized myasthenia gravis (gMG) in the United States: insights from patient and caregiver interviews and surveys.Journal of patient-reported outcomes · 2026Article
- Review
- A genomics health strategy for the Arabian Gulf.Nature medicine · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Economic Burden of Generalized Pustular Psoriasis: A Population-based Register Study in Finland.Acta dermato-venereologica · 2026Article
- Developing therapeutics for rare cardiovascular diseases.American heart journal · 2026Review
- Cost analysis of financial, productivity, and informal care burdens in families raising children with congenital anomalies.Health economics review · 2026Article
- Hide and Seek: Privacy-Preserving Artificial Intelligence with a Feasibility Study in Rare Disease Diagnosis.medRxiv : the preprint server for health sciences · 2026Article
- Cost analysis of hospitalized children suspected of rare genetic diseases.Orphanet journal of rare diseases · 2026Article
- Understanding Ehlers-Danlos Syndrome: A Claims-Based Analysis of Healthcare Cost Patterns.Journal of health economics and outcomes research · 2026Article
- Enhancing medical care for aniridia through a public health lens: a scoping review of organizational models, patient management, and quality of life assessment.Frontiers in public health · 2026Article
- Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States.ClinicoEconomics and outcomes research : CEOR · 2026Article
- National-level estimation of long-term economic burden for lung cancer patients in China.Frontiers in public health · 2026Article
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate the prevalence and the direct medical cost of RD, we used claims data from three sources: Medicare 5% Standard Analytical File, Transformed Medicaid Statistical Information System, and Optum claims data for the privately insured. To estimate indirect and non-medical cost components, we worked with the rare disease community to design and implement a primary survey.
resultsThere were an estimated 15.5 million U.S. children (N = 1,322,886) and adults (N = 14,222,299) with any of the 379 RDs in 2019 with a total economic burden of $997 billion, including a direct medical cost of $449 billion (45%), $437 billion (44%) in indirect costs, $73 billion in non-medical costs (7%), and $38 billion (4%) in healthcare costs not covered by insurance. The top drivers for excess medical costs associated with RD are hospital inpatient care and prescription medication; the top indirect cost categories are labor market productivity losses due to absenteeism, presenteeism, and early retirement.
conclusionsOur findings highlight the scale of the RD economic burden and call for immediate attention from the scientific communities, policy leaders, and other key stakeholders such as health care providers and employers, to think innovatively and collectively, to identify new ways to help improve the care, management, and treatment of these often-devastating diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.