Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

Xuefeng Li,Shu Zhang,Bingzhe Li,Zijuan Lu,Li Ou,Jianyong Zhang,Jincheng Zhou,Xiangyu Zhang

doi:10.1186/s13023-021-01788-3

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.

Highlights

It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society
We investigated rare disease awareness and perspectives among physicians and experts in China
The participants may represent a group of Chinese physicians who is more likely to have better rare disease awareness because the social media accounts and websites used to enroll participants have regular coverage of rare diseases

Summary

Introduction

It 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. It is estimated that there at least 16.8 million rare disease (by definition of Orphanet) patients in China, representing a significant challenge for the healthcare system that. As shown in a previous study, 78.8% of rare disease patients believed that they did not receive proper care due to the lack of rare disease awareness and knowledge among physicians [6]. Newborn screening has undergone a rapid development, it is still a great challenge to increase coverage and expand disease panel across the whole country [9]. The results generated will provide a basis for relevant departments to issue relevant policies, and provide reference for medical research and development

Methods

Results

Discussion

Conclusion