Challenges and Recommendations​

Recommendations

1. Accurate data relating to rare diseases in Malaysia is needed:
  • Resolve to have an accurate and representative definition for Rare Disease in Malaysia.
  • Create and maintain an accurate and up-to-date national registry on rare diseases, including genetic and congenital conditions.
2. Legislation is needed to protect the rights of individuals with rare diseases:
  • Rare Diseases and Orphan Drug Act legislation is urgently needed to protect the rights and lives of babies, children and persons with rare diseases. This is in keeping with international standards and practices and will help develop specific criteria for evaluating new orphan drug listing in the Ministry of Health Formulary.
  • Adequate funding and resources must be allocated to provide access to diagnostic tests, treatment and rehabilitation to all patients with rare diseases and their families.
  • Engaging the insurance industry to remove discrimination against patients with inherited rare diseases.
  • Increase job opportunities and educational training and support for disabled persons with rare diseases.
3. Funding and expertise for treatment and rehabilitation services:
  • Increase the budget for investigations, treatment and management of rare diseases in all types of healthcare facilities and university hospitals to achieve equity of care and services regardless where the patient is domiciled.
  • Increase funding for rehabilitation services, including equipment and more qualified therapists.
  • Increase accessibility for disabled persons in general, which would also incorporate those patientswith rare diseases.
  • Provision of respite care for parents and caregivers of patients with rare diseases that causeddisabilities. Improve palliative care services for end-of-life situations in patients with rare diseases
  • Improve palliative care services for end-of-life situations in patients with rare diseases.
  • Improve inter-ministry collaboration in treatment of rare disease.
4. Awareness and educational programs on rare diseases to patients, health professionals and general public:
  • Commit to training more health professionals and genetic counsellors to help families with rare diseases and to avoid delay in diagnosis.
  • Increase awareness among key stakeholders in Malaysia on rare diseases such as policymakers, academics, media organizations and non-governmental bodies.
  • Networking, coalition building and media education to raise the profile and sensitization of the general public to the issue of rare diseases.
  • Greater focus on the topic of rare diseases in medical training
5. Pre-pregnancy and Pregnancy Care:
  • Food fortification with folic acid to prevent neural tube defects.
  • Educational programs for all women of childbearing age and healthcare providers regarding avoidance of teratogenic drugs.
  • Educational programmes for sonographers, obstetricians, nurses and midwives to detect signs of possible rare disease during prenatal check-ups and upon birth.
  • Educational programmes for nurses and midwives on how to provide immediate care for babies born with rare diseases, for example those with epidermolysis bullosa, osteogenesis imperfecta (brittle bone disease) and spinal muscular atrophy type 1.
6. Newborn screening program for diseases that cause severe disabilities and death:
  • Newborn screening for inherited metabolic diseases to provide prompt diagnosis and treatment.
  • Newborn screening for critical congenital heart diseases.
  • Newborn screening for rare primary immunodeficiencies.
  • Newborn screening for spinal muscular atrophy type 1.
7. Expertise and laboratory facilities to diagnose serious genetic diseases:
  • Capacity-building in critical areas of expertise for rare diseases such as genomic scientists, clinical geneticists, genetic counsellors, genetic nurses and technologists and primary care providers.
  • Create government posts for new areas of employment e.g. genetic counsellors and genomic scientists as well as data managers.
  • Increased diagnostic laboratories for genetic and genomic diseases in various parts of the country.
8. Research and development in rare diseases as one of the priority areas:
  • More research funding is needed for rare diseases that may not be ‘commercially’ beneficial. Manynew innovative pharmaceuticals and approaches to therapy are a result of new insights from research into rare diseases.
  • Explore the possibilities for joint venture with pharma and biotechnology companies to producebiopharmaceuticals, biosimilar products, biosensors and medical devices locally, thus generatingnew industries in the field of rare diseases.

Increase awareness amongst key stakeholders in Malaysia on rare diseases such as policymakers, academics, media organizations and non-governmental bodies.