Rare Disease Day: China strives to improve health system for patients

Rare Disease Day is observed annually on the last day of February. The World Health Organization (WHO) defines a rare disease as a condition that affects fewer than 1 in 65,000 people in a particular population.

There are over 7,000 known rare diseases, many of which are genetic, complex, and difficult to diagnose or treat. Patients with rare diseases often face delayed diagnoses, limited treatment options, and a lack of specialized care.

With a population of over 1.4 billion people, China has made remarkable strides in improving its healthcare and medical insurance systems to serve this often-overlooked population.

So far, around 780,000 rare disease cases have been registered in more than 480 hospitals in China since the inception of a rare disease diagnosis and treatment service information system in 2019.

The country has released an update of its rare disease catalog, with the total number of rare diseases included in the catalog reaching 207.

“This holds great significance in comprehending the epidemiology, clinical diagnosis, and medical support status of rare diseases within China,” said Jiao Yahui, an official with the National Health Commission (NHC).

A total of 324 hospitals were selected to establish a national collaboration network for rare disease diagnosis and treatment in 2019, implementing a two-way referral and remote consultation mechanism. Medical institutions at all levels are required to register rare disease case information through the rare disease diagnosis and treatment service information system.

Pre-pregnancy screening is the key

About 80 percent of rare diseases have a genetic connection, and roughly 50 percent begin in childhood. Thus, pre-pregnancy screening, also known as carrier screening, can be a valuable tool in helping reduce the risk of having a child with certain rare diseases.

Yang Yanling, head of the Genetic and Metabolic Epidemiology Group, Rare Disease Branch, Beijing Medical Association, told China Media Group that “everyone carries at least hundreds of disease-causing gene mutations. In most cases, they are recessively inherited rather than inherited.”

“But if a couple both happen to carry the same genetic mutation, they may form a pair and pass the disease to their next generation, which is why rare diseases are so close to us,” said Yang.

Yang explained that if the pre-pregnancy screening detects that a couple both carry the same gene mutation, the doctors can then do the prenatal diagnosis of the fetus for further treatment.