Imagine getting a diagnosis for a child that only a handful of doctors have seen, and learning that a life-changing treatment exists, but it feels out of reach because of cost, bureaucracy, or lack of local expertise. This is the reality for many Malaysian families facing rare diseases. This article walks through the gaps in care, the promise of new therapies, and practical steps Malaysia can take to make diagnosis, prevention, and affordable treatment part of everyday healthcare - not something decided by luck or circumstance.
Ways Forward for Rare Disease Care in Malaysia
The recent IDEAS Policy Paper No. 85 serves as a constructive starting point for Malaysia, offering a pragmatic roadmap for the procurement of an ultra-high-priced gene therapy treatment for Spinal Muscular Atrophy (SMA). By focusing its remit on financing mechanisms, specifically the feasibility of spreading payments over longer terms, the paper provides a valuable tool for immediate budget management. However, to build a health system that can be more equitable and sustainable, we should move past the hype and expand considerations from the paper's scope and move toward a deeper, broader dive into the systemic challenges that remain - such as the fundamental cost of innovation, the fair allocation of risk, and the regulatory agility needed to foster strong competition.
Prevention and Informed Family Planning
A strong healthcare system should help families before a crisis happens. Right now, there is a paradox: a lot of the focus is on treatments after a child is born, but we can also invest in simple tests that could help parents beforehand. Prevention is the foundation. This means making carrier screening a normal part of life for couples planning a family. By parents testing early, they can get the counseling and guidance they need to make informed choices. This might include special medical options like IVF combined with Pre-implantation Genetic Diagnosis (which allows for the selection of embryos free from specific genetic conditions) or early pregnancy testing, empowering parents to be prepared and respond to their needs.
Why Testing at Birth is Critical
Even the most expensive medicine cannot "fix" damage that has already happened. SMA destroys the nerves that control movement and breathing. Once those nerves are lost, they don't come back, even with gene therapy. In Malaysia, most children are only diagnosed after they start showing symptoms, which means the medicine won't work as well as it could. Newborn screening, where every baby is tested at birth, ensures that if a child has SMA, they get treated immediately - before the damage starts. This makes sure every ringgit spent on the medicine gives the child the best possible chance at a healthy, independent life.
Choice and the Cost of Treatment
It is important to remember that gene therapy is not the only option. There are other treatments that are also safe and effective, even if they aren't as "high-tech." This creates a choice: gene therapy for one patient can cost as much as the lifetime care of several other patients using other drugs. Independent HTA (Health Technology Assessment) bodies for drug pricing like the Institute for Clinical and Economic Review (or ICER) have noted that while drugs like Zolgensma are amazing, their prices are often much higher than what they consider fair or "cost-effective." A good system must balance the excitement of new technology with an optimised therapeutic portfolio and the need to help as many people as possible.
Fair Access for the Whole Community
Currently, only a very small number of children qualify for gene therapy because the rules are strict (like being very young and under a certain weight). This creates a gap where most of the budget can serve only a narrow band of people, potentially leaving all the rest behind. If we spend all our resources on one treatment that most people can't get, we risk ignoring the needs of the wider community. We need a system that supports everyone, ensuring that funding is used in a way that maximises community benefit, where those who don't qualify for gene therapy aren't left with no support.
Smarter Ways to Pay
We need to change how we think about the bill for this drug. Simply paying in installments doesn't make the medicine more affordable nor address underlying price-to-value gaps; it just spreads out the debt. A better way is risk-sharing. This means that our government and the drug company agree that if the drug doesn't meet specific clinical milestones, the manufacturer (not the taxpayer) shoulders the cost. We should also look into national insurance pools to share the burden across the whole population. This makes the bill much more manageable and protects the public budget from being drained by a single highly priced treatment.
Using Competition to Lower Prices
In the beginning, the first company to make a new drug usually charges the highest possible price because they have no competition. But the world is changing, and fast. New biotech companies, especially in Asia, are now developing “me too” and “me better” gene therapies that work just as well but cost much less. Malaysia needs to be ready to consider these more affordable gene therapy options as soon as they are proven safe and effective, and provide fast-track pathways. Should we constrain our choice to a high priced brand name if significantly more affordable, competitive options are and become available? Competition is the best way to make these treatments affordable for everyone.
A Better Future for Malaysia
Rare diseases is a complicated and fragmented space with significant unmet needs. By focusing on prevention, testing babies at birth, and finding smarter ways to drive affordability and to pay, we can build a system that is equitable and lasts. We could even look at temporary bridges to outbound care, where patients access overseas centres of excellence and medical cooperation that offer life-changing treatments at lower costs. On the flip side, Malaysia could become a hub for clinical trials, research, and manufacturing itself. The goal is to make sure the promise of modern science isn't limited to just a few, but a fair reality for every family in Malaysia.
Edmund Lim is a patient advocate and a father to children with rare conditions, including Spinal Muscular Atrophy (SMA).
