Rare but not forgotten: How to close the gaps in rare disease care in Asia

The term "rare disease" is a misnomer that masks the reality of devastating medical conditions that place a huge physical and psychological burden on patients. But they are also an area where, together, the power of science and policy can drive lasting change for patients.

Globally, there are around 400 million people living with rare diseases, with around 250 million of them in Asia. Around 10,000 rare diseases have been identified, yet treatment exists for less than 10% of them.

And because most rare diseases are of genetic origin, the patients facing this reality are often children. When a child is affected, the impact ripples across the entire family, representing an enormous challenge for parents navigating daily life. One study showed almost half of parents caring for a child with a rare disease struggle financially; 38% had to reduce their working hours, while 34% had to give up work altogether. These factors, along with a lengthy diagnosis journey and limited specialized support, often lead to chronic suffering, social isolation and reduced quality of life.

There is some hope, though: Exciting progress has been made with advances in research and treatment, and through the adoption of the first Resolution on Rare Diseases at the World Health Assembly in May last year.

However, more must be done to turn the resolution into reality – to close critical gaps in the knowledge of healthcare providers to enable faster diagnosis and offer comprehensive support, innovation in diagnostics, funding mechanisms and access in order to potentially transform the rare disease landscape into one where we can reduce the suffering of patients. This includes the crucial implementation of the resolution in Asia, leveraging regional associations like the Association of South-East Asian Nations (ASEAN) and the Asia-Pacific Economic Cooperation (APEC) to foster collective commitment and action.

The diagnostic journey rare disease patients face is a long, rocky path; research shows that it can take up to five years to finally meet a physician who will know the disease in question and offer a diagnosis. One major contributor is the fact that many rare diseases present with non-specific symptoms common to other diseases. Other factors include doctors having limited specialized knowledge in rare diseases, the need for extensive testing and specialist referrals across different disciplines, limited access to genetic testing, as well as broader healthcare system issues like data fragmentation and lack of integrated communication between specialists.

To accelerate rare disease diagnosis and streamline the patient journey, a collaborative approach is required. Healthcare professionals need to be comprehensively trained to identify rare diseases early to reduce time to diagnosis. Establishing national disease programmes with shared clinical databases and multidisciplinary teams can help foster data-sharing, the knowledge that is vital to understand the rare disease landscape and address the challenges faced by patients.

In South Korea, we have worked with our partners to establish 28 centres of excellence for patients with neurofibromatosis type 1 (NF1) and bring MRI scanning to those who previously had a six- to eight-month wait. This is crucial in the diagnosis and treatment journey to evaluate the extent of plexiform neurofibromas and monitor disease progression. NF1 is a rare, progressive, genetic condition that is commonly diagnosed in early childhood and can impact every organ system. Up to 50% of patients living with NF1 may develop a type of non-malignant tumour called plexiform neurofibroma (PN) that may affect the brain, spinal cord and nerves, and become malignant.

Working to increase access for patients requires collaboration between governments, healthcare institutions, specialists and patient advocacy groups to raise awareness, drive education and reduce the burden that rare disease patients are currently bearing.

Approximately 95% of currently identified rare diseases do not have an FDA-approved treatment, making innovation particularly urgent. In Asia particularly, due to the large patient population, diagnostic challenges, and complex, diverse healthcare systems, of which many are still maturing, innovation is particularly crucial. While the focus on gene and cell therapy and genomic research is growing, progress is still hampered by insufficient disease knowledge and data gaps due to small patient cohorts. To address this, we need an ecosystem of public-private partnerships that includes patients from the start to understand unmet needs and to help design effective clinical trials.

Leveraging AI also plays a crucial role: It can help identify disease patterns and support in building virtual patient cohorts in cases where patient numbers are particularly small and scattered. In Asia particularly, encouraging earlier involvement in global clinical trials, bringing innovative therapies to the region and investing in science platforms are vital to expedite the region’s rare disease capability.

In addition to the diagnostic journey and the limited number of specialist facilities, rare disease patients often face costly lifelong therapy. On average, the price of orphan drugs – drugs designed to treat rare diseases – is around five times higher than that of non-orphan drugs, due to the high R&D costs, a limited patient pool, and the challenges associated with developing treatments for rare diseases.

A study in Taiwan showed that rare disease drug expenditures increased from $13.24 million in 2003 to $121.98 million in 2014; while rare disease spending is a small slice of the overall national drug budget, it represents a disproportionate burden within the healthcare costs of the individual patient. To ensure sustainable access, there must be a government-supported approach, so patients can be on the therapy they require for as long as necessary.

This is why we need to drive comprehensive national rare disease policies and introduce innovating funding models. Involving patient advocacy groups is vital: They offer real-world experiences and are key in ensuring the patient perspective is accounted for. Industry has a role to play too by expanding early diagnosis programmes and patient assistance programmes, while supporting policy-makers on rare disease policy agenda.

Rare diseases are an undeniable global health challenge; one that can strip children of their futures, places immeasurable burdens on families, and puts immense strain on healthcare systems and societies. Every delay in diagnosis, every barrier to access, every missed opportunity for innovation has a profound impact on millions of lives.

Yet with advances in genomics and novel therapies, paired with investing in science platforms, expanded patient assistance programmes and stronger collaboration across the healthcare landscape, we have what it takes to turn the WHO resolution into reality and rewrite this story.