About 780,000 cases of rare diseases were recorded in China, from 2019, when the Rare Disease Diagnosis and Treatment Service Information System began in the country, until the end of September 2023.
The National Health Commission official Jiao Yahui said at the China Conference 2023 on rare diseases “This holds great significance for understanding the epidemiology, clinical diagnosis and medical support status of rare diseases within China,” reports Al-Rai daily.
About 80 percent of rare diseases are linked to genetic links, while about 50 percent of them begin in childhood. Although the prevalence of individual rare diseases may be low, their large numbers in China can be attributed to the country’s huge population.
In 2019, 324 hospitals were selected to establish a national cooperation network for rare disease diagnosis and treatment, and implemented a two-way mechanism for remote referral and consultation. Medical institutions at all levels are required to record rare disease case information through the Rare Disease Diagnosis and Treatment Service Information System.
In September 2023, China issued an update to its list of rare diseases, bringing the total number of rare diseases on the list to 207.