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Page 2 Chu et al. J Transl Genet Genom 2024;8:49-54 https://dx.doi.org/10.20517/jtgg.2023.47

namely the Hong Kong Genome Project (HKGP), where their four strategic directions are pertinently
mapped with the eight publications in this special issue covering application and review of genomic
advancement in rare and common diseases, experience sharing of high-quality sequencing and analysis
platforms, and recommendations and strategies in fostering the development, wide adoption of, and access
to the benefits of genomics and precision health.

Recognising the immense potential of genomic medicine and the lack of genomic data, many countries and
regions have also launched their own genome projects to contribute to the advancement of healthcare in
their communities. Hong Kong, as a world-recognised financial centre with a modern city standard and
quality of living, also seizes the opportunity to embrace the era of precision medicine for more accurate
diagnosis and personalised treatment. The Hong Kong Genome Institute (HKGI), established by the
Government of Hong Kong in 2021, implements the city’s first large-scale genome sequencing project,
HKGP, aiming to perform whole genome sequencing (WGS) for up to 50,000 genomes by 2025. Chu et al.
presented the potentials and challenges of launching the HKGP as their first paper after the successful
implementation of the HKGP . Four main strategic foci pertaining to (1) integrating genomic medicine
[6]
into clinical care; (2) advancing research in genomic science; (3) nurturing talents in genomic medicine; and
(4) enhancing public engagement and genomic literacy were mapped out to work toward achieving HKGI’s
vision and mission, “to avail genomic medicine to all for better health and well-being”. They reviewed the
current landscape and specific challenges encountered during the construction of the infrastructure,
workflow, and implementation of the pilot phase of HKGP, highlighting the importance of governance,
stakeholder engagement, the development of a patient-focused consent protocol, the unique three-tier
informed consent process, and the aspiration for developing the genetic counselling profession in Hong
Kong. This paper provides insights not only for international counterparts when building similar projects
but also into setting a solid foundation for integrating genomics into routine clinical care by starting a new
theme “Genomics and Precision Health” in addition to “Undiagnosed Diseases” and “Hereditary Cancers”
after the pilot phase with the completion of the first 5,000 genomes. This new theme focuses on driving the
incorporation of genomic medicine into mainstream healthcare development in Hong Kong by improving
genomic diagnosis, personalised treatment, personalised prediction, and the prevention of disease risks.
Collaborative research projects in diverse disease cohorts, beyond the existing undiagnosed diseases and
hereditary cancers, that will benefit from WGS in disease diagnosis, treatment, and prevention have been
initiated. Sequencing infrastructure and analysis platforms have also been further enhanced with the latest
technologies incorporated to facilitate advanced genomic research development and discovery. These pave
the way to move toward the four strategic directions to foster the development, wide adoption of, and access
to the benefits of genomics and precision health.

(1) Integrating genomic medicine into clinical care

The art of genome sequencing and analysis offers valuable insights into early and precise diagnosis,
personalised treatment and management of various diseases, highlighting the expanding influence of
genomics across diverse areas of clinical practice. In this special issue, we gathered an application of
genomics in prenatal molecular diagnosis of a rare disease, X-linked Bartter Syndrome, as well as reviews on
how genomics benefits clinical practice in various common disease cohorts, such as inherited cardiovascular
conditions (ICCs), adult myeloid leukaemia (AML), and young-onset diabetes (YOD) [7-10] . Xu et al.
presented an application of genomics in the prenatal diagnosis of Bartter syndrome (BS), which is
[7]
important for the early onset of polyhydramnios related to BS . They reported that severe transient X-
linked antenatal BS was resulted by the fetus carrying the MAGED2 hemizygous nonsense variant c.967C>T
[p. (Asp323*)] inherited from the pregnant mother. Therefore, a prenatal genetic diagnosis can confirm that