Urgent call for comprehensive reform of rare disease care in Hong Kong
Hong Kong Med J 2025;31:Epub 18 Feb 2025
© Hong Kong Academy of Medicine. CC BY-NC-ND 4.0
LETTER TO THE EDITOR
Urgent call for comprehensive reform of rare
disease care in Hong Kong
Richard SK Chang, FRCP1; Desmond YH Yap, MD, PhD2; KY Chan, MD3; CY Wong, FHKCP3; ML Chan, FHKCPsy4
1 Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia
2 Division of Nephrology, Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China
3 Palliative Medical Unit, Grantham Hospital, Hong Kong SAR, China
4 Department of Psychiatry, The Chinese University of Hong Kong, Hong Kong SAR, China
Corresponding author: Dr Richard SK Chang (richard.chang@alfred.org.au)
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To the Editor—We write in response to an article
that highlighted the experience of two Cantopop
artists whose son was diagnosed with a rare disease.1
Because of its complexity, immediate discussion is
warranted of the critical aspects of managing rare
diseases in Hong Kong.
Rare disease, which impacts about 300 million
individuals globally, encompasses a number of
medical conditions across different specialties.2
Neurological disorders and metabolic causes account
for 40% and 10% of rare diseases, respectively, with
tuberous sclerosis and spinocerebellar ataxia being
examples in Hong Kong.3 In general, there is a lack
of awareness about rare diseases among healthcare
professionals and the public, with consequent
delayed diagnosis and treatment.3 Families who
cope with diseases often encounter emotional
and psychological problems that are compounded
by a lack of specialised psychosocial support and
palliative care access.4 Moreover, the financial strain
of managing diseases is substantial; drug costs for
rare diseases are reportedly up to 13.8 times higher
than those of more common ailments.3 It is crucial to
provide comprehensive care for rare disease patients
and their families.
The healthcare system for rare diseases in
Hong Kong is not as advanced or well equipped as
comparable centres in the US2 and Mainland China.5
It faces challenges at different levels. Key issues
include insufficient patient support, absence of a
specific registry, limited availability of genetic testing,
and a high financial burden for patients. To bridge
these gaps, Hong Kong could learn from the well-established
networks and care models of the US,2 as
well as the central registry in Mainland China,5 and
adopt supportive policies and financial assistance
programmes. As a starting point, the Hong Kong
Genome Institute (https://hkgp.org/en/) provides
a strong platform from which to promote public
awareness of rare diseases in Hong Kong. In addition,
with the newly established Genetics and Genomics
(Medicine) Fellowship of the Hong Kong Academy of
Medicine,6 genetic testing and counselling that target
rare disease could be streamlined.
Author contributions
All authors contributed to the letter and critical revision of the
letter for important intellectual content. All authors had full access to the data, contributed to the study, approved the final
version for publication, and take responsibility for its accuracy
and integrity.
Conflicts of interest
The authors have disclosed no conflicts of interest.
Funding/support
This letter received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
References
1. Cheng L. Hong Kong star couple Stephanie Ho, Fred Cheng
share story of son’s Angelman syndrome diagnosis to
raise public awareness. South China Morning Post. 2024
Jun 2: Health & Environment. Available from: https://www.scmp.com/news/hong-kong/health-environment/article/3265045/hong-kong-star-couple-stephanie-ho-fred-cheng-share-story-sons-angelman-syndrome-diagnosis-raise. Accessed 17 Feb 2025.
2. Baynam G, Hartman AL, Letinturier MC, et al. Global
health for rare diseases through primary care. Lancet Glob
Health 2024;12:e1192-9. Crossref
3. Chung CC, Ng NY, Ng YN, et al. Socio-economic costs
of rare diseases and the risk of financial hardship: a
cross-sectional study. Lancet Reg Health West Pac
2023;34:100711. Crossref
4. Chan KY, Yap DY, Singh Harry Gill H. Rethinking palliative
care in psychiatry. JAMA Psychiatry 2023;80:1089-90. Crossref
5. Guo J, Liu P, Chen L, et al. National Rare Diseases Registry
System (NRDRS): China’s first nation-wide rare diseases
demographic analyses. Orphanet J Rare Dis 2021;16:515. Crossref
6. Hong Kong Academy of Medicine. Specialty descriptions.
2024 Feb 6. Available from: https://www.hkam.org.hk/sites/default/files/PDFs/2024/SPECRE25%20(Specialty%20descriptions%20-20240206).pdf?v=1736316996530 . Accessed 6 Feb 2025.