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

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

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


BACKGROUND: 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.

MATERIALS AND METHODS: A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.

RESULTS: Most 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.

CONCLUSIONS: Our 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.

Original languageEnglish (US)
Article number171
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Apr 13 2021

Bibliographical note

Funding Information:
Dr. Xuefeng Li is sponsored by National Natural Science Foundation of China (81972204), Natural Science Foundation of Guangdong Province (2019A1515011097), Innovation Program of Shenzhen (Grant No. JCYJ20180508165208399), Science and Technology Planning Project of Guangzhou (201904010089), China Postdoctoral Science Foundation: 2018M640834, 2019T120756, the grant from the State Key Lab of Respiratory Disease, Guangzhou Medical University (SKLRD-Z-202002), and the 111 Project (D18010) from the Ministry of Education of China, which pays for his salary and the publication cost of this manuscript. No funding for all other coauthors.

Publisher Copyright:
© 2021, The Author(s).


  • Diagnosis
  • Physicians
  • Questionnaire
  • Rare disease
  • Orphan Drug Production
  • China
  • Humans
  • Rare Diseases/diagnosis
  • Male
  • Surveys and Questionnaires
  • Infant, Newborn

PubMed: MeSH publication types

  • Research Support, Non-U.S. Gov't
  • Journal Article


Dive into the research topics of 'Rare disease awareness and perspectives of physicians in China: a questionnaire-based study'. Together they form a unique fingerprint.

Cite this