SEPTEMBER 11 — In August 2025, Malaysia reached a critical milestone in healthcare reform with the launch of its first-ever National Policy on Rare Diseases. This groundbreaking initiative marks a shift toward health equity by formally recognising individuals with rare diseases as a vulnerable group entitled to timely diagnosis, access to treatment, and long-term care. For many years, these patients and their families have faced delayed diagnoses, a lack of available therapies, and mounting financial and emotional strain. Now, with this policy, Malaysia is not only committing to improved care but is positioning itself to lead the Asean region in rare disease management.
The National Policy on Rare Diseases outlines a structured and coordinated approach to addressing the needs of rare disease patients in Malaysia. Its framework revolves around these main pillars: clinical management, the regulation and accessibility of orphan products, laboratory services, advocacy and health education, the development of a national patient registry, and rehabilitative and supportive care. This framework aims to acknowledge the seriousness of rare diseases, promote national strategies for intervention, advocate for access to essential and often expensive medications, and encourage international collaboration.
However, despite the policy’s promise, the country still faces significant challenges. At present, there is no comprehensive epidemiological study or national registry to quantify the rare disease burden. Regulatory pathways for the approval and pre-access of orphan drugs can be further improved. The shortage of clinical geneticists, genetic counsellors, and laboratory professionals, including genetic pathologists, hampers early and accurate diagnosis. Genetic testing, which is vital for identifying many rare conditions, is not readily accessible or affordable for most patients. Furthermore, there is no specific legislation in place to protect the rights of individuals with rare diseases, especially children, and existing health insurance policies rarely provide sufficient coverage for rare disease treatment. Limited funding and a lack of coordination between key sectors have also slowed progress.
To overcome these obstacles, Malaysia has laid the groundwork for a national implementation framework. This is led by the National Rare Disease Committee (NRDC), established in 2019 and chaired by the Deputy Director General of Health. The committee, supported by the Ministry of Health, oversees four technical working groups focused on clinical care, orphan drug access, advocacy and health education, and the assessment of rare disease-related technologies. Their role is to guide policy implementation, monitor compliance with Ministry of Health guidelines, review treatment strategies, support early intervention through prenatal and newborn screening, and evaluate emerging innovations in health technology. At the same time, efforts are underway to foster collaboration between government agencies, academia, non-governmental organisations, pharmaceutical companies and rare disease patient communities.
Malaysia’s ambitions are further strengthened by rapid advancements in digital infrastructure, especially with the recent RM9.3 billion investment by Microsoft in the country’s AI and cloud ecosystem. This investment includes the creation of the Malaysia West Cloud Region, which can become the digital backbone of a healthcare ecosystem powered by AI, big data, and precision medicine. If aligned effectively with the rare disease policy, this infrastructure could revolutionise diagnosis, treatment, and research. AI-driven platforms have the potential to reduce the diagnostic odyssey that many rare disease patients endure, by enabling faster and more accurate identification of rare conditions. Machine learning algorithms can analyse genetic data to match patients with targeted therapies and track their treatment outcomes. Combined with next-generation sequencing and bioinformatics, these tools can significantly improve both clinical care and the pace of drug discovery.
However, technology alone is not sufficient. Genetic counselling remains a vital part of the care pathway. These professionals serve as a bridge between complex genomic data and the patients who need to understand it. They help families interpret results, assess hereditary risks, explore reproductive options, and cope with the emotional and psychological impact of a diagnosis. Unfortunately, access to genetic counselling in Malaysia is limited, particularly in rural areas, due to a shortage of qualified professionals. The new policy aims to address this by integrating genetic counselling into public health services and expanding the availability of these services nationwide.
Malaysia’s comprehensive approach, combining policy, infrastructure, and human capital, offers a clear path toward regional leadership in rare disease care. By investing in local capabilities, expanding newborn screening programmes, building national data registries, and improving access to affordable diagnostics and therapies, the country can attract international investment and play a key role in global clinical trials and pharmaceutical research. The development of treatments such as gene therapy and targeted oral medications has opened new possibilities, but they remain out of reach for many due to cost. Malaysia has the potential not only to increase local access but also to contribute meaningfully to the development of new, cost-effective treatment pipelines tailored to the genetic and demographic profiles of populations in South-east Asia.
To fully realise this potential, Malaysia must act decisively. The Rare Diseases Policy must be operationalised with clear and sustainable funding mechanisms. Newborn screening must be expanded to detect treatable conditions early, allowing interventions before symptoms appear. A centralised, AI-powered national registry must be established to unify clinical and genomic data for research and clinical decision-making. Simultaneously, investments in bioinformatics, genomics, and public health training are essential to build a future-ready healthcare workforce. Integrating genetic counselling into mainstream health services will ensure that no family is left behind due to geographic or economic limitations. At the international level, Malaysia should strengthen regional collaborations to become a leader not just nationally but across Asean in advancing rare disease care and innovation.
This effort is not merely an act of charity; it is a fundamental expression of health equity. Every Malaysian, regardless of how rare their condition may be, deserves a chance at early diagnosis, effective treatment, and a life of dignity. With strong political will, cutting-edge technology, and a compassionate, inclusive approach, Malaysia is well positioned to become Asean’s hub for rare disease care, where innovation meets humanity.
* This is the personal opinion of the writer or publication and does not necessarily represent the views of Malay Mail.
