In China, Patients with Rare Diseases Struggle for Affordable Therapies, Study Says

Despite the support from basic health insurance, those in China living with rare diseases, such as myasthenia gravis (MG), hemophilia, and phenylketonuria (PKU), still struggle to have access to affordable medications and therapies, according to a study.

The findings of the study, “Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance,” were published in the Orphanet Journal of Rare Diseases.

Rare diseases are disorders that affect a small percentage of the general population. In the United States, a disease is considered rare when it affects fewer than 200,000 people; in the European Union, it receives the same classification when it affects fewer than five people in 10,000.

“The World Health Organization has estimated that more than 400 million people worldwide have one of the 7,000–8,000 diseases defined as rare, which means that one in 15 people is affected by a rare disease,” the authors wrote. In China, a country with approximately 1.38 billion people, at least 90 million are living with a rare disease.

“Rare diseases are one of the major challenges in the era of precision medicine because of the low incidence and prevalence, difficulty in diagnosis, lack of sufficient therapeutic methods, as well as their significant impact on the affected individuals, families, and the society,” they wrote.

In this study, the authors set out to evaluate the healthcare service utilization and health security of Chinese patients living with eight different rare diseases.

Despite being rare, the eight selected disorders — MG, hemophilia, PKU, multiple sclerosis, acute promyelocytic leukemia, growth hormone deficiency, motor neuron disease, and mucopolysaccharidosis (also known as Sanfilippo syndrome) — have a high media exposure and public awareness in the country, and for that reason can be referred to as “common” rare diseases.

The study was based on data from 7,747 patient records from 29 provinces of mainland China that had been stored at the Chinese national insurance database between 2014 and 2016.

Information regarding patients’ demographic and healthcare service utilization was obtained from the Chinese national monitoring system for health service utilization. All patients were covered by healthcare insurance. Healthcare service parameters analyzed during the study included types of clinical visits, length of stay, and healthcare insurance utilization.

Results showed that more than half (61.4%) of the patients with rare diseases enrolled in the study sought medical treatment at general tertiary hospitals.

The total treatment cost (TTC), which corresponds to the total cost of medical care for a patient in a year, reached on average 40.18 million Chinese yuan (about $5,650,000). More than half of these costs (54.2%) corresponded to medication expenditures. The majority of the TTC (63.3%) was covered by basic health insurance.

Correlation analyses demonstrated the TTC was highly influenced by demographic, geographic, and socioeconomic factors, as well as the level of security and type of health institution visited. Moreover, they found these types of correlations were different depending on whether patients were hospitalized (inpatients), or simply visited the hospital/clinical center (outpatients).

In general, although basic health insurance effectively supported patients facing a high financial burden imposed by medical costs, the coverage provided was limited and often insufficient.

“Healthcare insurance is an effective safeguard for patients with rare diseases; however, affordable and accessible treatment is still lacking for rare disease patients,” the authors wrote.

“The society and government should build a healthcare security system from equality, sustainable, and inclusiveness perspective. Undoubtedly, there is still a need to further improve the diagnostic and treatment technology, expertise among healthcare providers regarding rare diseases, as well as the health security level,” they added.