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

Rare disease patients often experience diagnosis delays or misdiagnosis, which may be due to lack of knowledge on rare diseases among physicians.

To assess Chinese physicians' knowledge on specific rare diseases and identify its associated factors.

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.

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.

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.