Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China.

Background: To investigate the multidimensional difficulties in accessing a definitive diagnosis of adult rare diseases and the associated impact factors in China.
Methods: A total of 1010 adult rare disease patients from the 2018 China Rare Disease Survey were used for analysis. The Structural Equation Models examined the interrelationships among five accessibility indicators and the effects of three sets of impact factors.
Results: (1) Accessibility: 72.97% of patients were misdiagnosed; they waited an average of 4.30 years and visited 2.97 hospitals before the definitive diagnosis; 67.13% were diagnosed outside the home city and traveled an average of 562 km. (2) Interrelationships among accessibility indicators: the experience of misdiagnosis significantly increased diagnosis delay and the number of hospitals visited, but had no significant effect on healthcare utilization across cities. (3) Impact factors: the rarity of disease only increased the number of hospitals visited and residence-hospital distance; high-quality healthcare distribution was key in determining accessibility; the older, disabled, poor, and less-educated individuals, and those in Central/West China were disadvantaged.
Conclusion: The socioeconomic dimension of difficulties in accessing a definitive diagnosis of rare diseases should be attended, especially the uneven distribution of high-quality healthcare and those disadvantaged patients. More systematic rare disease surveys are needed in the future.