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Page 12 Chu et al. J Transl Genet Genom 2022;6:290-303 https://dx.doi.org/10.20517/jtgg.2022.02

universities. The Government reserved HKD$1.2 billion (USD$150 M) for the Project, the first population-
scale whole-genome sequencing project in Hong Kong with the aim to sequence up to 50,000 genomes by
2025.

Leveraging the experience from other sequencing projects, the HKGP is expected to serve as a catalyst to
advance the development of genomic medicine in Hong Kong. In addition to the clinical benefits, it would
also strengthen the local talent pool, establish infrastructure and protocols, and drive new policy measures
in the field of genomic medicine. The data generated from HKGP would form one of the largest health-
related local databases and create new research opportunities for studying various diseases.

Since its incorporation in May 2020, the HKGI has been fully engaged in recruiting professionals in the field
and setting up various hardware and software necessary for implementing the HKGP. It would pioneer the
development of a clinical genomic platform for the population of Hong Kong, with continuing
contributions from all members of HKGI under the governance of six committees, overseen by the Board of
Directors [Figure 1].

The implementation of HKGP is being conducted in two phases, namely the pilot phase and the main
phase. Under the pilot phase of the Project, approximately 2000 cases (~5000 genomes, as majority of the
cases will be subjected to trio analysis) will be sequenced. The recruitment eligibility criteria include patients
with undiagnosed diseases, hereditary cancers (genetic predisposition to cancer), and their family members.
During the short-term and long-term strategic planning process, the current landscape of genomics and
genetic services in Hong Kong was carefully reviewed to identify key issues and challenges facing HKGI in
the future. Lessons learnt during the pilot phase would guide the directions of the Project’s main phase as it
grows and expands its coverage into other disease areas and research cohorts. The main phase will sequence
approximately 18,000 cases (~45,000 genomes).

Participants enrolled in the HKGP receive WGS analysis in addition to the usual clinical care. A trio-based
approach would be adopted in majority of the cases, where feasible, to assist genomic data interpretation.
Phenotypic data is recorded using Human Phenotype Ontology (HPO) terms to standardise clinical data
input. A whole blood sample is collected from all participants for DNA extraction and subsequent WGS
analysis in the HKGI laboratory and sequencing centre at a public-funded university. For participants with
suspected hereditary cancers, an additional tumour sample, preferably fresh frozen sample, could be
obtained to compare against the germline genome for the detection of somatic variants.

Engagement with frontline healthcare and medical-academic systems
The recruitment structure of HKGP is built on the establishment of partnerships with existing healthcare
systems. For the pilot phase, HKGI has established and fully funded the operations of three HKGP
Partnering Centres at the university-affiliated teaching hospitals within the public healthcare system to
ensure equitable access to the Project. The Partnering Centres play important roles in providing clinical
support, such as recruiting participants, providing genetic counselling, collecting samples, handling
enquiries, delivering genome sequencing results, and liaising with clinical teams of the hospitals [Figure 2].
The Partnering Centres’ participation in HKGP not only introduces whole-genome sequencing (WGS) in
the public healthcare system, but also offers a unique opportunity to provide experiential learning and
training for the workforce in the Partnering Centres, pathing the way for clinical implementation of
genomic medicine.