Recognising rare diseases: Towards universal healthcare

The world marks Rare Disease Day on Feb 28 annually. Rare diseases affect 4%-6% of the population, and of the 8,000 recorded diseases, only about 200 have pharmaceutical treatment.

Malaysia has taken a step forward and defined rare diseases as life-threatening and/or chronically debilitating rare conditions listed in the Malaysian Rare Disease List. Increased awareness of rare diseases and recognition that they are a national healthcare issue would lead to improved understanding of the issue, clarity of the scope and stakeholders involved, increased access to healthcare resources and, consequently, the availability of crucial life-changing medication.

In 2020, Health Minister Datuk Seri Dr Adham Baba announced that RM16.5mil was spent to treat patients with rare diseases. Some rare diseases cost more than half a million ringgit every year for treatment.

Based on this, RM16.5mil would fund the treatment of 33 individuals. For example, idursulfase (enzyme replacement therapy) for the treatment of mucopolysaccharidosis type II costs approximately RM6,800 per vial. A patient who weighs 25kg would need two vials per week, which requires more than RM700,000 every year. Some orphan drugs require up to RM1.6mil in funds for only one enzyme replacement therapy each year. (According to, an orphan drug is a medicinal product that is primarily intended to treat, prevent or diagnose a rare disease.)

Increased awareness within the broader community

Awareness among policymakers, academics, the media, and NGOs in Malaysia of rare diseases must be increased. The father of a girl diagnosed with infantile Pompe disease, Sivasangaran Kumaran, expressed hope that children with rare diseases will receive the best care and support from every stakeholder, and this should not be limited to the healthcare ecosystem. For example, as they grow older, children with rare diseases should be supported in their pursuit of education and economic opportunities.

Comprehensive medical training to ensure early diagnosis

Limited financial support and resources as well as persistently low levels of awareness leave patients undiagnosed, misdiagnosed and prevented from receiving vital treatment. Parents and siblings of these patients often do not receive adequate support and many find themselves on a “diagnostic odyssey” for years.

In medical school, the subject of rare diseases is often summarised and incorporated into subcurricula such as genetics, biomedical science, biochemistry, and physiology. Students are only exposed to genetic disorders once hospital rotations begin.

Without sufficient government funding for rare disease in university hospitals, the training of future generations of health professionals in this area would be neglected in the long-term. This could potentially lead to delayed diagnosis, lack of knowledge of treatment, delayed genetic counselling, and reduced prenatal diagnosis services and screening programmes.

Universities should offer research opportunities as well as case-based virtual labs to encourage medical students to pursue careers as clinical geneticists, a talent pool sorely lacking in Malaysia. Permanent government positions for genetic counsellors must also be established.

Additionally, there is a need for capacity-building programmes and diagnostic laboratories for genetic and genomic diseases. To address this, a centre of excellence in rare diseases or an institute for rare disorders could be established for the purposes of training, education and research.

Studies have shown that rare disease diagnosis may take between five and eight years depending on the disease and healthcare setting. Misdiagnoses and delayed diagnoses not only result in additional cost to healthcare systems but also increase the emotional and financial burden on patients and their families.

Urgent need for improved access to medication and treatment facilities

The Covid-19 pandemic has worsened barriers to treatment and diagnoses. Patients are avoiding hospitals as a rare condition can place them at increased risk of contracting Covid-19 or at increased risk of mortality from the virus. While telemedicine provides an alternative option, it is not accessible to all due to prohibitive device and Internet costs.

Rare diseases which have pharmaceutical treatment options are few and far between. The biopharmaceutical industry regards orphan drugs as uneconomical due to the vast amount of investment required for the initial R&D, difficulties with small cohorts for clinical trials, and the small “customer” pool to recoup the investment.

Due to a lack of facilities and expertise, genetic testing is expensive and samples for genetic testing often have to be sent overseas, thus leading to exorbitant costs.

Legislative protection of the rights of individuals with rare diseases

Many nations, including China, India, Japan, Singapore and Taiwan, have enacted Rare Disease or Orphan Drug Acts or policies. Malaysia does not currently have similar legislation and has an opportunity to advance this agenda.

While there is certainly much work to be done, the Social & Economic Research Initiative is encouraged by the government’s efforts to provide holistic rare disease management through the work of the National Rare Disease Committee, the National Framework for Rare Diseases, and the Strategic Framework Medical Programme 2021-2025. As Apec (Asia-Pacific Economic Cooperation) 2020 chair, Malaysia also advanced the policy dialogue on rare diseases across the region.

These efforts must be bolstered as we strive towards achieving the goals of universal healthcare and ensuring no one is left behind.


Note: Seri is a non-partisan think-tank dedicated to the promotion of evidence-based policies that address issues of inequality. For more information, visit

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