Examining trans-provincial diagnosis of rare diseases in China: The importance of healthcare resource distribution and patient mobility

Abstract

(1) Background: Rare disease patients in China usually have to travel a long distance, typically across provinces, for an accurate diagnosis due to the uneven distribution of healthcare resources. This study investigated the impact factors of their trans-provincial diagnosis. (2) Methods: An analysis was made of 1531 cases (1032 adults and 499 children) garnered from the 2018 China Rare Disease Survey, representing a large patient community inflicted with 75 rare diseases from across 31 Chinese provinces. Logistic regression models were used for separate analysis of adult and child patient groups. (3) Results: Nearly half (47.2%) of patients obtained their accurate diagnosis outside their home provinces. The uneven geographical distribution of high-quality healthcare had a significant impact on variation in trans-province diagnosis. Adult patients with lower family income, rural hukou and severer physical disability were disadvantaged in accessing trans-provincial diagnosis. Families with a child patient tended to pour resources into obtaining the trans-provincial diagnosis. The rarity of the disease had only a minimal effect on healthcare utilization across the provinces. (4) Conclusions: In addition to medical care, more attention should be paid to the socioeconomic factors that prevent the timely diagnosis of a rare disease, especially the uneven geographical distribution of high-quality healthcare resources, the financial burden on the family and the differences between adult and child patients.