Epidemiological research, scientific research, and applied research on rare diseases in China: current challenges and prospects for the future

ABSTRACT

Introduction: This review describes the current scientific research on RDs in China. A fundamental flaw in the prevention and control of RDs is the lack of social insurance for patients with an RD.

Areas covered: This paper explains and evaluates the current scientific research on RDs in China. Issues with epidemiological research on RDs are undefined disease entities and the lack of an inventory of those diseases and baseline data, national epidemiological surveys. Fewer diseases have been studied, fewer research grants have been given, fewer articles have been published, and fewer studies to standardize diagnosis and treatment have been conducted in China than in Japan. Issues with applied research are limited standardization of the diagnosis and treatment of RDs and the shortage of medical facilities specializing in RDs.

Expert opinion: Given these circumstances, the Chinese Government should establish a framework for a national plan to combat RDs, it should fund scientific research, enhance the management of RD research, support the development of novel drugs, increase international cooperation and improve the nation’s ability to combat RDs. The system of basic medical insurance in China has gradually improved, and hopes are that medical insurance will be provided to patients with an RD.

KEYWORDS:

• Rare diseases
• orphan drugs
• scientific research
• national plan

Article highlights

• This review describes the current scientific research on rare diseases (RDs) in China; a fundamental flaw in the prevention and control of RDs is the lack of social insurance for patients with an RD.

• Issues with epidemiological research on RDs are undefined disease entities and the lack of an inventory of those diseases and the lack of baseline data, national epidemiological surveys, and disease registries.

• Research by the National Natural Science Foundation of China (NSFC) only covers 28 diseases (22.31%) among the 130 diseases covered by the Program to Research Treatments for Specified Diseases (PRTSD) in Japan and by the Orphanet database of RDs;

• China’s grants for research on RDs as a proportion of its total expenditures on healthcare proportionally exceeded those of Japan over a 3-year period, which indicates that China is allocating proportionally more of its current healthcare expenditures to research RDs compared to Japan.

• Fewer diseases have been studied, fewer research grants have been given, fewer studies have been conducted, fewer articles have been published, and fewer epidemiological studies and studies to standardize diagnosis and treatment have been conducted in China than in Japan.

• Issues with applied research are limited standardization of the diagnosis and treatment of RDs and the lack of medical resources RDs.

This box summarizes key points contained in the article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This paper was not funded.