Navigating The Rare Disease Landscape In Asia

KUALA LUMPUR, Nov 26 (Bernama) -- Malaysia, as a co-sponsor of the World Health Assembly (WHA) resolution on Rare Diseases in 2025, has the potential to advocate for advancing care and treatment for the ASEAN region by fostering an ecosystem that promotes awareness, preparedness, regulatory acceleration, equitable funding, and policy leadership.

 According to Rare Disease International (RDI), over 7,000 rare diseases have been identified worldwide, affecting more than 300 million people, with genetic causes accounting for 72 per cent of these diseases.

The Asia-Pacific (APAC) region, home to over 60 per cent of the world’s population, has the highest number of people living with rare diseases, estimated at over 258 million.

On average, rare diseases can take up to five years to diagnose due to misdiagnoses and the involvement of multiple healthcare professionals.

Senior Vice President, Europe, Canada and International Region, Alexion, AstraZeneca Rare Disease, Soraya Bekkali said that Malaysia’s collaborative and integrated strategy encompassing policy, education, infrastructure, and funding, is crucial to addressing the challenges faced by rare disease patients.

Highlighting disease awareness and education as examples, she stated that updating medical curricula to include training on rare diseases is necessary to better prepare students for clinical practice.

For practicing physicians, Bekkali noted that it is essential to establish mechanisms for ongoing education about emerging rare diseases, clinical trials, and new treatment options, as many rare diseases are often underdiagnosed or misdiagnosed due to unfamiliarity.

“We need to establish national centres of excellence to serve as hubs for diagnosing and treating rare diseases. These centres will house experts who can guide other healthcare professionals and drive research to expand knowledge of rare diseases,” she said on Bernama TV’s ‘The Nation’ programme today.

On diagnostic accuracy, she highlighted the need for healthcare systems to have the necessary tools and testing capacities, including specialised tests, assays, and genetic analyses, to accurately diagnose rare diseases.

In terms of policy, she suggested that Malaysia's fast-track approval of rare disease treatments in 2020 could serve as a model for other countries in the region, although accelerating regulatory approval may require political will.

Meanwhile, regarding funding, Bekkali proposed that ASEAN countries should establish a dedicated funding stream for rare diseases, ensuring that financial resources are specifically allocated to these conditions and not overlooked within broader healthcare budgets.

“The lack of consistent healthcare access across countries makes it difficult for patients to receive timely diagnoses or access to treatments; however, there is growing awareness throughout the region that rare diseases have a knock-on effect.

“This sense of urgency, combined with the growing recognition that research into rare diseases can benefit more common conditions (especially those with genetic links), serves as a powerful motivator for change.

“Therefore, I believe the idea of creating a regional umbrella for collaboration, data sharing, and collective efforts among Asia countries, rather than replicating Europe’s model, makes sense because it requires a tailored approach. With a more connected world, combined with the expertise and the lessons learnt, the region has the opportunity to leapfrog earlier stages of rare disease treatment development,” she said.

As a pioneer in developing innovative medicines for rare diseases, Bekkali added that AstraZeneca is fully committed to accelerating progress by sharing its knowledge, so that Asia’s journey for rare disease treatments may progress faster than Europe’s decades-long journey.

“As we (European countries) have seen (practices) that work (and do not), collaborating with Ministries of Health and the medical community is critical to addressing the access and reimbursement issues associated with treating rare diseases because access to treatment is fundamental in ensuring patients do not have to bear the financial burden,” she said.

-- BERNAMA