Challenges and Recommendations

Lack of Protection of the Rights and Dignity of Individuals with Rare Diseases

In Malaysia, dedicated financial support for genetic diseases began in the first decade of the 21st century with reimbursements for the purchase of iron chelators for treatment of iron overload in patients with beta thalassaemia major. In the early 2000s, through the work of early clinical geneticists and paediatricians, funding of approximately RM8.5 million was obtained for enzyme replacement therapy (ERT) for the treatment of patients with lysosomal storage diseases (LSD) from the Ministry of Health. However, with the increasing number of patients and the chronic nature of these rare diseases, the funding allocated to the MOH has become insufficient. Many patients are not receiving the correct dose for their treatment and the number of new patients who continue to await treatment is increasing annually. An additional RM10 million was allocated in 2017 to address some of these issues (The New Straits Times, 2017). However, ERT funding is only available to MOH patients while some patients are diagnosed in university hospitals and private healthcare facilities. Limiting nationwide access to ERT only to Hospital Kuala Lumpur (HKL) for MOH patients from Peninsular Malaysia further increases patient congestion and exacerbates the challenges of delivering treatment to patients who may have difficulties accessing HKL. Efforts to raise funding for ERT via charitable organizations, mass and social media events and private companies as well as compassionate use of ERT were occasionally met with limited success, but ultimately unsustainable for medium and long-term needs. ATechnical Committee for ERT was established and a guideline on the indications and use of enzyme replacement therapy for lysosomal diseases in Malaysia was issued by the MOH in 2009 and updated in 2017 (Ministr y of Health 2017). Whilst this example shows the challenges faced by LSD patients, it is likely that this too would be the same experience for other rare disease groups and their drug treatments in the near future.

Prior to the 14th General Election, the Pakatan Harapan (PH) coalition issued a manifesto declaring in one of its promises that it “will increase budget allocation and will provide incentives for the participation of private companies and charitable bodies to tackle rare diseases.” Specific measures and actions by PH government to follow through with this promise are highly anticipated.The government must look beyond the cost of these treatments and the rarity of the diseases and recognise that access to healthcare is a basic human right. Measures need to be taken to protect this fundamental human right and dignity.Thus, action is urgently required to establish legislation, regulations and national policies to address these issues. This is critical as the number of medications available for rare diseases is on the rise and increasing numbers of patient groups will advocate for access to these news drugs and treatments.The government must plan on how to address licensing regulations, pricing and distribution of these drugs. In addition, the government should also make provisions to encourage local research on rare diseases, and on the development of orphan drugs as a strategic biotechnological industry in Malaysia. Many countries across the world have established Rare Disease and/or Orphan Drug acts or policies, including at least five Asian countries such as Taiwan, Singapore, China, India and Japan (Gamme, Lu, and Babar 2015). Currently, Malaysia does not have similar legislation — it is thus time for Malaysia to advance this agenda.

In Malaysia, dedicated financial support for genetic diseases began in the first decade of the 21st century with reimbursements for the purchase of iron chelators for treatment of iron overload in patients with beta thalassaemia major.