Physicians’ knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China

BACKGROUND: Rare disease patients often experience diagnosis delays or misdiagnosis, which may be due to lack of knowledge on rare diseases among physicians. OBJECTIVE: To assess Chinese physicians’ knowledge on specific rare diseases and identify its associated factors. METHODS: Thirty-four patient organizations with a unique disease of interest were invited to develop 3 knowledge questions for each rare disease to assess physicians’ knowledge on the disease that they felt most experienced in. The total knowledge score for each participant ranged from a score of 0 to 3. A national cross-sectional study conducted in a cohort of 3197 physicians from 6 provinces across western, central and eastern China. The demographic information of the participants was collected including gender, age, birthplace, income, education, hospital class, working title, working years, and specialty. A multiple linear regression analysis was performed to assess the independent associations between the physician variables and the total knowledge score. RESULTS: Two thousand, one hundred and fifteen (66.16%) of the involved physicians obtained a total knowledge score of 2 or 3. The median knowledge scores of 10 (29.4%) rare diseases were a score of 1.5 or below. Physicians with female gender (β = 0.08, p < 0.05 for females vs. males), and a monthly income of 5000–10,000 RMB (β = 0.11, p < 0.01 for 5000–10,000 vs. < 5000) and 10,000–30,000 RMB (β = 0.14, p < 0.05) were associated with a higher score. Specialties of physicians who received a relatively higher score included internal medicine, obstetrics and gynecology, radiology, intensive care unit, and surgery. CONCLUSIONS: Almost two thirds of the participants had an average or good level of knowledge on the specific rare disease that they felt most experienced in. Physicians with female gender, a monthly income of 5000–10,000 RMB and 10,000–30000 RMB, and specialties of internal medicine, obstetrics and gynecology, radiology, intensive care unit, and surgery, were associated with a relatively higher knowledge score. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02243-7.