Clear Definition, Stronger Diagnostic Pathways Key To End ‘Invisible’ Rare Disease Patients In ASEAN

By Nurul Hanis Izmir

PUTRAJAYA, Nov 26 (Bernama) -- Rare diseases, typically serious and often genetic conditions affecting a small number of people but exerting a heavy burden on families, must be clearly defined and fully integrated into healthcare systems if Southeast Asia is to reduce years of delayed diagnosis, misdiagnosis and inadequate support, regional experts said.

A rare disease is generally defined as a condition that affects a very small proportion of the population. However, global experts are now expanding this definition beyond numbers alone.

A new “operational description” by Rare Disease International (RDI) and the World Health Organisation (WHO) classifies a rare disease not only by low prevalence, but also by its significant medical, social and economic impact, the difficulty of obtaining timely diagnosis, limited access to specialised care and the heavy burden placed on patients and families.

Today’s ASEAN Rare Disease Policy Forum is among the first major regional commitments worldwide to translate the landmark resolution into tangible action.

RDI chief executive officer, Alexandra Heumber Perry, said this broader approach is crucial to ensuring patients are recognised and supported within healthcare systems.

“In addition to the definition about the numbers, experts at RDI and WHO have developed what we call an operational description of rare diseases,” she told Bernama in an exclusive interview during the Southeast Asia Rare Disease Policy Forum 2025.

She said the expanded definition looks at impact, burden, access barriers and diagnostic challenges, allowing countries to properly classify rare diseases and integrate them into health policies.

From a medical perspective, she said, a clear definition determines whether patients are “seen” by the system.

“We cannot let patients and families not know what they have, not being enrolled into the healthcare system, or not having psychological and social support. If a condition is not recognised, families miss school, lose income and may not qualify for disability allowances,” she said.

She added that without recognition, patients often remain invisible: “If patients stay invisible, with no name for their disease, they are lost in the healthcare system or not even in it.”

Meanwhile, Senior Vice President, Europe, Canada and International Region, Alexion, AstraZeneca Rare Disease, Dr Soraya Bekkali, said rare diseases vary widely in severity and visibility.

“Following the WHO Resolution adopted in May 2025, we are encouraged to see meaningful policy advances taking shape across Asia.

“In August 2025, Malaysia announced its National Policy for Rare Diseases, which highlights the need for a dedicated national budget to ensure continuous treatment access and in September this year, Vietnam’s Ministry of Health launched the 2025-2026 Rare Disease Management Plan,” she said.

Dr Soraya cited “bubble boy disease”, an ultra-rare disorder where children are born without a functioning immune system, and only a few hundred cases have been reported worldwide.

She also said that conditions like cystic fibrosis are still rare diseases but have become widely recognised due to decades of advocacy and treatment development, demonstrating the importance of awareness.

On economic impact, she said studies in the United States, Europe and Japan reveal billions in direct and indirect costs due to misdiagnosis, complications and loss of productivity and the economic burden these patients experience can be 6 to 10 times higher compared to the general population.

“If we were to do the same calculations in Asia, I’m sure it would also be in the billions per year,” she added.

President of the Malaysian Society of Nephrology (MSN) Prof Dr Lim Soo Kun said Malaysian clinicians face significant challenges due to fragmented referral pathways and limited access to specialised tests.

“Many tests are not readily available locally, and even if they are, they are expensive. These are common barriers,” he said, adding that due to gaps in local capacity, clinicians have long outsourced tests overseas.

He noted that many rare diseases are genetic, amplifying their impact across generations.

“Polycystic kidney disease, for example, affects around 2,500 of our 53,000 dialysis patients. With a 50 per cent inheritance risk, the burden continues into the next generation.

“To address diagnostic gaps, ASEAN should consider developing shared regional diagnostic hubs. We cannot expect every country to have full diagnostic capacity. Certain specialised tests could be done in Singapore, others in Thailand or Malaysia,” he stressed.

Echoing Lim, Soraya shared that Europe’s rare-disease reference networks offer a model for ASEAN.

“Malaysia could be the reference centre for rare kidney disease, Thailand for rare cardiomyopathies, and Singapore for others. That is how you build a network,” she said.

She said such a network would be more cost-effective than outsourcing to laboratories in the United States or Europe, adding that political commitment and a modest ASEAN budget could accelerate progress.

Previously, in his keynote at the forum, Health Minister Datuk Seri Dr Dzulkefly Ahmad announced that Malaysia will table a comprehensive ASEAN Roadmap on Rare Diseases at the ASEAN Health Ministers Meeting (AHMM) in 2026 to strengthen awareness, capacity and sustainable financing.

“We applaud the leadership of Malaysia’s Ministry of Health, a co‑sponsor of the resolution, for championing rare diseases at the regional level and urging governments to promptly translate the resolution into action.

“Rare disease management in Southeast Asia remains fragmented, with significant gaps in surveillance, financing, access to care, professional awareness, and social protection. We hope insights from the Forum will support Malaysia’s intention to place rare diseases on the ASEAN agenda in 2026,” he said.

The roadmap will outline shared priorities, including integrating rare diseases into ASEAN’s health agenda, expanding newborn screening and genomic testing, developing national registries, improving referral pathways and establishing regional centres of excellence.

“We believe public-private partnerships can accelerate implementation of the WHA Resolution by bringing global rare disease experience directly to Southeast Asia. The region’s unique challenges - geographic dispersion, diverse healthcare systems, and varying levels of economic development - require combined capabilities that only partnerships can provide”.

Malaysia, which chaired ASEAN in 2025 and will host AHMM 2026, has pledged to help translate the WHA rare disease resolution co-sponsored by Malaysia, the Philippines and Thailand into concrete regional action.

-- BERNAMA