Why This Moment Matters
On August 27, 2025, Malaysia unveiled its first National Rare Disease Policy (NRDP), a statement of intent and national direction. Its true impact will depend on how aspiration turns into implementation, and whether it leads to lasting change rather than symbolic gesture.
Earlier this year, Malaysia joined other member states in co-sponsoring and voting for the adoption of the 78th World Health Assembly Resolution on rare diseases, an acknowledgement that rare diseases are not a fringe issue.
Affecting an estimated 1.3 to 1.5 million Malaysians, they are a legitimate and pressing target for public policy.
The Ministry of Health (MOH) and its partners across government, healthcare, research, and patient groups deserve credit for making the NRDP possible. The question now is not whether to act, but how to act fairly and urgently.
This achievement builds on Malaysia’s progressive architecture of protections for vulnerable groups: Child Act 2001 and Persons with Disabilities Act (legal foundation), Education Act 1996 and Education Blueprints (inclusive education), and Social/Employment policies (welfare protection).
Rare disease care now finds its rightful place within this framework of rights and inclusion. The NRDP is a natural extension of Malaysia’s broader ambition: a health and welfare system where universality truly means universality.
From Compassion To Justice: The Ethical Basis
Rare disease strategies are often framed around compassion, but for policies to endure, they must be anchored in justice. In Malaysia’s case, four ethical principles stand out:
- Non-Exclusion: Universality must mean that no group, however small, is systematically excluded.
- Prioritarianism (“Priority to the Worse-Off”): When conditions are severe and options are few, claims on public resources strengthen.
- Enhancing Capabilities and Social Value: Policy should be judged by what it enables people to be and do, learn, work, participate, and plan. Rare disease services expand these capabilities, a value often overlooked in cost-based decisions.
- Fair Process: In hard trade-offs, legitimacy comes from transparency: clear criteria, reasons people accept, avenues for appeal and meaningful patient group participation at every stage.
These principles can help Malaysia chart a path from ad-hoc compassion to measurable justice. Justice that can be audited, defended and sustained.
A Whole-Of-Society Agenda
Delivering meaningful change requires a whole-of-society collaboration, and not the responsibility of health authorities alone. The NRDP must mobilise ministries, markets, and communities including:
- Ministry of Health: Public health, prevention, timely diagnosis, registries, clinical trials, equitable financing, orphan drug access, regulation, mental health, and talent development across care fields.
- Ministry of Education and Ministry of Higher Education: Inclusive learning and education, accessible infrastructures, talent development, educator readiness and research.
- Ministry of Women, Family and Community Development: Protection and inclusion for PWDs, caregiver support, medical social workers, and links to social welfare.
- Ministry of Finance: Sustainable budgeting, pooled procurement, tax incentives, duty exemptions, and industry innovation support.
- Ministry of Investment, Trade and Industry: supporting local manufacturing, job creation, trade facilitation, health innovation investment, and cross-sector partnerships in diagnostics and therapies.
- Ministry of Science, Technology and Innovation: Local innovation in diagnostics and management, AI, translational research, bioethics, and standards.
- Ministry of Human Resources, Ministry of Youth and Sports, Ministry of Transport, Ministry of Home Affairs: Inclusive employment, youth enablement, public transport accessibility, and civil rights.
- Health Care and Industry: Diagnostics and therapy developers and partners, scaling solutions through public-private partnerships with patient group participation.
- Patient Organisations and Civil Society: Co-design, governance, advocacy, stigma reduction, and meaningful collaboration and participation throughout.
- Society at Large: combating stigma, reasonable accommodations, and championing inclusivity.
This means no single ministry or sector can deliver rare disease equity alone.
Making Fair And Equitable Choices
Every health system faces resource limits, including Malaysia. What matters more is how choices are made. If decisions rely only on narrow cost effectiveness, rare diseases lose by default.
But with clear equity rules (transparent processes, fair reasoning, outcomes-based financing, and appeal mechanisms), Malaysia can protect the vulnerable without destabilising the system and build justice that is measurable, defendable, and trusted.
Building The Future: Ten Development Scopes
In July 2025, stakeholders convened at the National Institutes of health. From these discussions, the rare disease community articulated ten development scopes, a roadmap for system building:
- Data Availability: A national registry integrated with eHR as the backbone for planning, trials, and financing.
- Screening and Diagnosis: A roadmap from carrier to newborn and cascade testing, complemented by an Undiagnosed Diseases Program to shorten diagnostic odysseys throughout the life course.
- Ethical, Legal and Social Issues (ELSI): National standards upholding ethics, rights, and cultural diversity across care pathway.
- Cross-Border Framework: Asean cooperation for pooled procurement, harmonised HTA, trial platforms, and data sharing.
- Therapies: Trial readiness, translational capacity, and fast-track regulatory pathways.
- Mental Health: Psychosocial support, peer networks, trauma and grief services for patients and caregivers.
- Health Care Delivery: One-stop centres, national protocols, and seamless paediatric-to-adult transitions.
- Health Economics and Financing: Sustainable reimbursement, including risk sharing models.
- Health Care Workforce: Training and retaining geneticists and all relevant specialities, genetic counsellors, lab specialists, nurses, and allied health professionals.
- Stakeholder Awareness and Involvement: Normalising patient group participation in governance and investing in public literacy to reduce stigma.
They form a coherent architecture, reinforcing each other to create a resilient system where laws, policies, and services interconnect.
Governance That Works: Practical Targets
Ambition means little without accountability. Malaysia must track rare disease progress with clear, practical metrics:
- A National Rare Disease Board, comprising ministries, patient groups, and industry.
- A publicly accessible “living list” of rare diseases.
- A yearly scorecard with five outcomes matters to families: time to diagnosis, out of pocket burden, therapy access, school inclusion, and caregiver distress.
- Sunrise/sunset clauses for funded technologies.
What Success Looks Like
Success is not abstract. It is measurable in the lives of patients and families. They can include but are not limited to:
- A diagnosis within months, not years.
- Every newborn screened for treatable rare diseases.
- Equitable, affordable access to orphan therapies.
- Children and youths with rare conditions supported to stay in school and higher education.
- Caregivers and adults with rare diseases able to keep their jobs because care is coordinated and affordable.
- Measurable reduction in caregiver stress.
- Malaysia participating in regional studies and pooled procurement, paying less and learning more.
These are not slogans, they are verifiable outcomes, achievable with commitment.
A Call To Leadership
The launch of the NRDP is a key milestone and its legacy depends on whether Malaysia builds durable, and equitable systems that endure beyond political cycles.
By grounding rare disease care in ethical principles, transparent decision-making and whole-of-society coordination, Malaysia can turn universality into lived reality.
If done well, the NRDP won’t be an exception, it will be a model for how a middle-income country can balance fairness, innovation and sustainability.
The time for aspiration has passed. Now is the time for action and measurable progress.
This article was authored by Assoc Prof Dr Teguh Haryro Sasongko, Prof Thong Meow Keong, Nadiah Hanim Abdul Latif, and Dr Nor Asiah Muhamad.
Assoc Prof Dr Teguh Haryo Sasongko is a rare disease researcher based at IMU University. He is Priority Area Advisor for Rare Diseases and Member of the Technical Working Group in the 13th Malaysia Plan Health Research Priorities. He is also a recipient of the Global Forum on Bioethics in Research (GFBR) Fellowship, organised and funded by the World Health Organization (WHO).
Prof Thong Meow Keong is a consultant clinical geneticist at Universiti Malaya Medical Centre, Honorary Professor at Universiti Malaya, and the Dean of M. Kandiah Faculty of Medicine and Health Sciences at Universiti Tunku Abdul Rahman.
Nadiah Hanim Abdul Latif is president of Malaysian Rare Disorders Society, Regional Representative for SEA & MENA of Phelan McDermid Syndrome Foundation, and Board Council Member of Rare Disease International.
Dr Nor Asiah Muhamad is Head of the Sector for Evidence-based Healthcare at the National Institutes of Health, Ministry of Health.
- This is the personal opinion of the writer or publication and does not necessarily represent the views of CodeBlue.
