ArticleOrphanet journal of rare diseases2021
Rare disease awareness and perspectives of physicians in China: a questionnaire-based study.
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 44 papers.
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Who cites it
44 citing papers in PubMed.
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 2026Article
- The "China model" for rare disease governance: Policy framework, local implementation, and pathways for optimization.Intractable & rare diseases research · 2026Review
- Awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in China: a survey-based study.BMC pediatrics · 2026Article
- Prevalence of depressive and anxiety symptoms among patients consulting a rare disease outpatient clinic for rare and undiagnosed diseases in China.Orphanet journal of rare diseases · 2026Article
- Optimizing regional rare disease management systems within China's policy framework: practical insights from the shantou experience.Orphanet journal of rare diseases · 2026Review
- A nationwide survey of awareness and understanding of NUT carcinoma among clinicians in China.BMC health services research · 2026Article
- The imperative for national legislation on rare diseases in China: A policy review and call to action.Intractable & rare diseases research · 2026Review
- From co-creation to compounding value: A new model of rare disease science communication in China.Intractable & rare diseases research · 2026Article
- Awareness of Duchenne muscular dystrophy among medical staff in China: a multicenter cross-sectional survey.Frontiers in pediatrics · 2026Article
- Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study.Applied research in quality of life · 2026Article
- Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China.Health care science · 2025Article
- Capability wellbeing of parents caring for children with rare diseases: a national cross-sectional study.BMC public health · 2025Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China.Intractable & rare diseases research · 2025Review
- Reforming China's Rare Disease Security System: Risk Management Perspectives and a Dedicated Insurance Innovation.Healthcare (Basel, Switzerland) · 2025Article
- Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.Journal of evaluation in clinical practice · 2025Article
- Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records.Orphanet journal of rare diseases · 2025Article
- Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.BMC medical education · 2025Article
- A bibliometric study of rare diseases in English and Chinese databases from 1985 to 2024 based on CiteSpace.Intractable & rare diseases research · 2025Article
- An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.Journal of internal medicine · 2025Article
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Authors and funding
8 authors.
Funding
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Abstract
backgroundIt is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. MATERIALS AND
methodsA total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.
resultsMost physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training.
conclusionsOur study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online 'information hub' are made for considerations of policy-makers.
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