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. 2020 Apr 2;15(4):e0230850.
doi: 10.1371/journal.pone.0230850. eCollection 2020.

Rare disease in Malaysia: Challenges and solutions

Asrul Akmal Shafie  1 , Azuwana Supian  1   2 , Mohamed Azmi Ahmad Hassali  1 , Lock-Hock Ngu  3 , Meow-Keong Thong  4 , Hatijah Ayob  5 , Nathorn Chaiyakunapruk  6
Affiliations

Rare disease in Malaysia: Challenges and solutions

Asrul Akmal Shafie et al. PLoS One. .

Erratum in

Abstract

Objective: Rare diseases are often underdiagnosed, and their management is frequently complicated by a lack of access to treatment and information about the diseases. To allow for better policy planning, we sought to examine the current status of managing rare diseases in Malaysia.

Methods: This study was conducted in two phases. In the first phase, we triangulated information from reviews of journal publications, documents from the Malaysian government and in-depth interviews among selected key healthcare stakeholders in Malaysia. The second phase was designed as a cross-sectional survey to estimate the number of cases and treatment coverage for rare diseases in Malaysia.

Results: Malaysia has no official definition of rare disease yet but currently in the process of reviewing them for Malaysia. There are 13 rare disease specialists and a dozen medical doctors in genetic clinics around Malaysia, mainly in public health facilities. From the survey, 1,249 patients were diagnosed with rare diseases in public hospitals. Only 60% received their medications or supplements, and the rest continued with symptomatic treatment.

Conclusion: Generally, Malaysia has made significant progress in the management of rare diseases, but there are still opportunities for development in critical areas. Ultimately, if all healthcare providers, government, society, and politicians work together to manage rare diseases, we will see an improvement in patient outcomes.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Rare disease groups: Number of rare disease patients and number of rare disease patients treated in Malaysia.
Fig 2
Fig 2. Allocation for genetic clinic in Hospital Kuala Lumpur (2013–2016).
See this image and copyright information in PMC

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