China is picking up the fight against rare diseases

“Health is a prerequisite for people's all-round development and a precondition for economic and social development.” So noted President Xi Jinping in an address to the senior leaders of the Chinese Communist Party in August 2016.

A few months later, with the adoption of the “Healthy China 2030” roadmap by the Chinese government, the country confirmed its ambition to include health in all policies and to link health to economic progress.

“Healthy China 2030” is the most ambitious illustration of China’s efforts to reform its healthcare system. Over the last 20 years, the country made great strides by investing massively in its health facilities and by raising the skills level of its health workers.

But more importantly, China has brought its population close to universal health coverage, thanks to the expansion of government-funded basic medical insurance. This achievement led Dr. Tedros Adhanom, Director-General of the World Health Organization, to acknowledge that the country was “leading by example on universal health coverage.”

Dealing with the unique challenges of rare diseases

On the road towards universal health coverage, governments across the world tend to first focus on addressing the most common conditions and primary care, temporarily putting aside those who suffer from rare conditions.

Globally, it is estimated that there are between 5,000 and 8,000 rare diseases. Most of them have a genetic origin and manifest in childhood. They are also often degenerative and life-threatening.

These diseases pose unique challenges to healthcare systems because they require specific medical expertise and significant diagnostic and screening capacities.

More importantly, they also pose unique challenges to patients and their families, who often find themselves isolated and sometimes spend years in search of proper diagnosis.

China’s efforts to prioritize the diagnosis and treatment of rare diseases remained nascent in the first waves of the healthcare system reform and efforts to get to universal coverage. But the need is clear and significant. In a country of around 1.4 billion people, “rare” translates to millions of people who suffer from these diseases. It is estimated that up to 20 million Chinese people suffer from a rare condition.

The government is now keen to catch up and has made rare diseases a public health priority as part of its 2030 roadmap.

In May 2018, the Chinese authorities published a list of rare diseases, covering 121 indications, including multiple sclerosis, Gaucher and Fabry diseases, and haemophilia.

The National Medical Products Administration – China’s pharmaceutical regulator – last year opened the possibility of fast track regulatory review for the registration of certain rare disease medicines.

Looking forward: ensuring that no one is left behind

The importance of rare diseases on the Chinese health and political agenda is growing. The government’s ambition to address rare diseases goes along with China’s new economic development journey, which includes a stronger focus on inclusive and high-quality growth.

In February 2019, Premier Li Keqiang called for further engagement in the fight against rare diseases. As with some cancer medicines the year before, the decision was made to cut the value-added tax rate (from 16% to 3%) for some rare disease medicines, in order to accelerate the launch of new treatments and incentivize their development.

As positive as these developments are, there are still many challenges to overcome to ensure that all Chinese people suffering from a rare disease have access to diagnosis and treatment.

In China and across the world, scarce diagnostic capabilities are one of the main challenges for rare disease patients. Many patients wait years to receive a correct diagnosis.

Ensuring greater knowledge and awareness of rare diseases among healthcare professionals is a basic but fundamental step. Likewise, putting in place early diagnosis and screening schemes can support better identification of patients.

Technology and big data can also be leveraged. Chinese authorities are working to establish databases to better understand the current epidemiology as well as research for future treatments.

Given the scarcity of rare disease patient data, there is the potential to improve the diagnosis and treatment of rare diseases in the near future with an increased use of Real World Evidence. This is derived from observational data obtained outside the context of randomized controlled trials, and the Chinese authorities have recently published draft guidelines for its use.

At the moment, though, several barriers hinder access to already existing treatments. Too many patients face significant out-of-pocket costs that put access to the treatment they need out of their reach. Those who are living in the largest cities of the country can be supported by local funding plans but, at a national level, only partial reimbursement is provided and rare disease treatments have yet to be included in the national drug reimbursement list.

As they work to incentivize the development and registration of medicines addressing rare conditions, establishing a special funding scheme for rare diseases at a national level would enable Chinese authorities to further improve their access and reimbursement policies.

Despite these challenges, it is clear that the recent and positive decisions taken by the government and the increased mobilization of actors in the system – patient groups, physicians, and the pharmaceutical industry – have sparked hope for millions of Chinese patients.

As China’s role and leadership in the global arena increases, other developing countries will be watching to see what can be learned from its approach to helping people suffering from rare diseases, and ensuring that nobody is left behind.