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

Orphanet Journal of Rare Diseases

Jincheng Zhou¹  Shu Zhang²  Li Ou³  Jianyong Zhang⁴  Bingzhe Li⁵  Zijuan Lu⁶  Xiangyu Zhang⁷  Xuefeng Li⁸ 

[1] Center for Design and Analysis, Amgen Inc, 91320, Thousand Oaks, CA, USA;Department of Oral Implantology, The Affiliated Stomatology Hospital of Kunming Medical University, 650106, Kunming, People’s Republic of China;Department of Pediatrics, Gene Therapy Center, University of Minnesota, 55455, Minneapolis, MN, USA;Jinhaishiji, 333 Jichanglu, 617000, Panzhihua, Sichuan, People’s Republic of China;School of Electrical and Computer Engineering, Oklahoma State University, 74078, Stillwater, OK, USA;School of Humanities, Tongji University, 200092, Shanghai, People’s Republic of China;School of Statistics, University of Minnesota, 55455, Minneapolis, MN, USA;Shenzhen Luohu People’s Hospital, The Third Affiliated Hospital of Shenzhen University, 518001, Shenzhen, People’s Republic of China;Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, 510530, Guangzhou, People’s Republic of China;The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People’s Hospital, Qingyuan, People’s Republic of China;State Key Laboratory of Respiratory Disease, Sino-French Hoffmann Institute, School of Basic Medical Sciences, Guangzhou Medical University, 511436, Guangzhou, People’s Republic of China;

关键词: Rare disease;    Questionnaire;    Physicians;    Diagnosis;   

DOI  :  10.1186/s13023-021-01788-3

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY