Rare disease in Malaysia: Challenges and solutions

Torpey, Kwasi and Shafie, Asrul Akmal and Supian, Azuwana and Ahmad Hassali, Mohamed Azmi and Ngu, Lock Hock and Thong, Meow Keong and Ayob, Hatijah and Chaiyakunapruk, Nathorn (2020) Rare disease in Malaysia: Challenges and solutions. PLoS ONE, 15 (4). e0230850. ISSN 1932-6203, DOI https://doi.org/10.1371/journal.pone.0230850.

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Official URL: https://doi.org/10.1371/journal.pone.0230850


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. © 2020 Shafie et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Item Type: Article
Uncontrolled Keywords: Reference Price; Essential Drug; World Health Organization
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 24 Jun 2020 04:35
Last Modified: 24 Jun 2020 04:35
URI: http://eprints.um.edu.my/id/eprint/24976

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