ArticlePharmacoEconomics2023
Are We Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluations and Cost-of-Illness Studies.
Article in PharmacoEconomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 16 citations in OpenAlex.
- Generalized Pustular Psoriasis: A Cost-of-Illness and Health-Related Quality of Life Study in Italy.PharmacoEconomics - open · 2026Article
- Policy lessons regarding medical security for rare diseases inChina: Insights from Zhejiang Province through the multiplestreams framework.Intractable & rare diseases research · 2026Review
- The economic burden of KCNT1-related disorders in the United States: insights from caregiver-reported and EMR-derived data.BMC health services research · 2026Article
- Health Technology Assessment Guidelines and Recommendations Across European Union Countries and the United Kingdom in Rare Disease and Paediatric Populations.Applied health economics and health policy · 2026Article
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Model-Based Economic Analyses of Haemophilia from a Societal Perspective: A Scoping Review.PharmacoEconomics - open · 2026Review
- HTA Evidence in Rare Diseases: Just Rare or Also Special?PharmacoEconomics · 2025Review
- Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.Kidney international reports · 2025Article
- The Socio-Economic Burden of Spinal Muscular Atrophy: A Cost-of-Illness Study in Bulgaria.Healthcare (Basel, Switzerland) · 2025Article
- A hierarchical and configurational analysis of Health Technology Assessment outcomes for cell and gene therapies.Frontiers in pharmacology · 2025Article
- Scoping Review of Economic Analyses of Rare Kidney Diseases.Kidney international reports · 2024Article
- Comparative evaluation of access to emicizumab (Hemlibra®) for people with haemophilia A in community and hospital pharmacies in France.European journal of public health · 2024Article
- Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium).Pediatric rheumatology online journal · 2024Article
- Qualitative Study on the Real Experiences of Patients with Meige Syndrome Based on the Individual and Family Self-Management Theory.Patient preference and adherence · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
BACKGROUND AND
objectivesRare diseases have a significant impact on patients, families, the health system, and society. Measuring the socioeconomic burden is crucial to valuing interventions for rare diseases. Healthcare system costs are significant, but so are costs to other government sectors, patients, families, and society. To understand the breadth of costs captured in rare disease studies, we examined the cost categories and elements of socioeconomic burden captured in published studies.
methodsA scoping review was conducted using five electronic databases to identify English language economic evaluations and cost-of-illness studies of interventions for rare diseases (2011-21). We mapped costs using a previously developed evidence-informed framework of socioeconomic burden costs for rare disease.
resultsOf 4890 studies identified, 48 economic evaluations and 22 cost-of-illness studies were included. While 18/22 cost-of-illness studies utilized a societal perspective, only 7/48 economic evaluations incorporated societal costs. Most reported cost categories related to medical costs, with medication and hospitalizations being the most common elements for both study designs. Costs borne by patients, families, and society were reported less among economic evaluations than cost-of-illness studies. These included: productivity (10% vs 77%), travel/accommodation (6% vs 68%), government benefits (4% vs 18%), and family impacts (0% vs 50%).
conclusionsContrary to cost-of-illness analyses, most of the included economic evaluations did not account for the hidden burden of rare diseases, that is, costs borne by patients, families, and societies. Including these types of costs in future studies would provide a more comprehensive picture of the burden of disease, providing empirical data to inform how we value and make decisions regarding rare disease interventions, health policy, and resource allocation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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 OpenQuestion graph.