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Page 10 Chu et al. J Transl Genet Genom 2022;6:290-303 https://dx.doi.org/10.20517/jtgg.2022.02

While genetic testing is a critical part of diagnostic journeys of patients with rare disease and cancer, cost
remains a critical hurdle in genetic services in Hong Kong. As the public service only sponsors and covers
essential healthcare for all, a limited number of genetic tests are covered [12,17] . Private financing schemes,
including employer-based and privately purchased insurance as well as household out-of-pocket payment,
represent common forms of healthcare financing in Hong Kong. As health insurance is not mandatory,
49.2% of the people in Hong Kong are not covered by any form of medical insurance and many would have
to bear the cost of genetic and genomic tests out-of-pocket . In a local study investigating the cost-
[18]
effectiveness of using chromosomal microarray as the primary test for prenatal diagnosis, only 41.8%
(300/717) of pregnant women were willing to pay fully out-of-pocket to undergo the test. In scenarios where
the test was subsidised at an increasing portion, more women were willing to undergo and benefit from the
[19]
diagnostic test . Another local study on Chinese females at-risk of Hereditary Breast and Ovarian Cancer
Syndromes showed that sponsored genetic counselling and testing were crucial for them as the majority
would not have opted for self-financed testing .
[20]

Some Asian countries have also started national genome projects to advance genomic medicine [Table 1]. A
fundamental change and reform of the current genomic landscape is undoubtedly an essential first step in
expediting the advancement in precision medicine. Without that, it is difficult to set the stage to facilitate
the breakthrough in improving the diagnostic rate and clinical management of rare and undiagnosed
diseases.

The characteristics of Asian robust city - Hong Kong
Chinese represents the largest population in the world, and Hong Kong has become a Special
Administrative Region of the People’s Republic of China since 1997. As a world recognised financial centre,
with a modern city standard and quality of living, Hong Kong retains its own economic, legal, social,
healthcare, and welfare infrastructures.

According to the latest population projections announced by the Census and Statistics Department
(C&SD) , Hong Kong’s population is projected to increase from 7.51 million in 2019 to 8.10 million in
[21]
[22]
2039. With reference to the 2016 by-census , over 90% of the Hong Kong population is ethnic Chinese and
other ethnic groups constitute the remaining 8% of the population. With a relatively homogenous
population, Hong Kong is therefore often being seen as a strategic location to conduct health-related studies
on Southern Chinese populations.

Current landscape of genetics and genomics in Hong Kong
Hong Kong has a well-established dual-track healthcare system comprised of 43 (and growing) public
hospitals managed by the Hospital Authority. Majority of the population (around 85%) uses public
healthcare, while the remaining population has convenient access to self-financed medical services. The
present paper systematically explores the history and background of the genomic and genetic services in the
context of the existing health service landscape, which serves as the backbone of the strategy and
implementation of the first large-scale genome project - The Hong Kong Genome Project (HKGP).

Hong Kong is not building genomics and genetics work from ground zero. Clinicians at the Department of
Health (the Government's health adviser and agency which executes health policies and statutory
functions), along with the Hospital Authority, medical schools of universities, and private hospitals, have
been providing continuous clinical genetics service and research support to the public in Hong Kong for
decades.