Chinese Patients with Rare Diseases Lack Affordable, Accessible Treatment

Health insurance is largely effective for Chinese patients with rare diseases such as hemophilia when it comes to being able to utilize healthcare services and buy medication. However, affordable and accessible treatment is still lacking and there is still a need for improvement in diagnostics and treatment of these rare diseases, a recent study shows.

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,” was published in the journal Orphanet Journal of Rare Diseases.

Rare disease in China is not unusual, as at least 90 million people have rare diseases due to the country’s large population.

Rare diseases are associated with a lack of effective treatment, misdiagnoses, missed diagnoses, and incurability, all of which can result in long-term physical and mental stress.

“Rare diseases are one of the major challenges in the era of precision medicine and reflect the social security level of minority groups,” the authors wrote.

Using a database of healthcare utilization information of patients with rare diseases, a group of researchers aimed to investigate healthcare service utilization and the basic situation of healthcare security of patients with rare diseases in China.

They studied a population of patients with eight rare diseases — acute promyelocytic leukemia, growth hormone deficiency, hemophilia, motor neuron disease, mucopolysaccharidosis, multiple sclerosis, myasthenia gravis, and phenylketonuria.

Among the 29 provinces in mainland China, patients with these diseases underwent 7,747 visits between 2014 and 2016, according to the national insurance database. The demographic and healthcare service information of these patients was collected from China’s national monitoring system.

Statistical analysis was performed to describe the basics of healthcare service, such as visit type, institution type, length of stay, healthcare insurance utilization, and the results of disease burden for different groups.

Results indicated that medical treatment from general tertiary hospitals was sought by 61.4% of patients with rare diseases.

The average total treatment cost for patients with rare diseases was about $714. Basic insurance paid, on average, $452.

The reimbursement rates for different rare diseases were essentially the same, with the lowest rate being 60.6% and the highest 78.4%.

Of the total treatment cost of about $5.6 million, 63.3% was paid by basic health insurance; 54.2% of the medical cost resulted from medicine expenditure.

Demography, geography, and socioeconomic factors, security level, and health institution situation all had an effect on the total treatment cost, though the correlation between these factors and total treatment cost was different for outpatients and inpatients.

Reimbursement rate had the highest effect on inpatients’ total treatment cost.

Researchers found that patients with rare diseases experience a considerable financial burden compared to the average person, which consequently increases the financial burden on basic health insurance.

In general, researchers discovered that basic insurance was effective for providing support for patients with rare diseases that involved high costs, though the coverage was limited.

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

They added, “There remains a need to further improve the diagnostic and treatment technology for rare diseases and expertise among doctors, as well as the security level of healthcare policies.”

The researchers outlined a plan to improve the circumstances of rare disease treatment. First, they noted that treatment for rare disease needs to be improved, especially in developing areas.

They then noted that the universal health coverage system needs to be more accurate and targeted, such as by improving the reimbursement level.

They also said there needs to be further integration of basic medical insurance to ensure the equality of health security for different groups of people and improving the role of supplementary insurance in the universal health coverage system.