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Chu et al. J Transl Genet Genom 2024;8:49-54 https://dx.doi.org/10.20517/jtgg.2023.47 Page 3

initiating prenatal indomethacin therapy has a beneficial effect on the fetus, emphasising the importance of
timely prenatal diagnosis of BS type 5 for guiding appropriate management of polyhydramnios and
postnatal symptoms. Loong et al. shared the experience from the ICC research program at the National
University Heart Centre, Singapore, bringing the notion that genomic medicine has opened the door to
precision medicine in cardiology . The clinical frameworks and considerations were presented, providing
[8]
an overview of the operations of the clinic, including wet and dry lab conditions, work performed by a
healthcare professional, and the variety of cases, ranging from cardiomyopathies and arrythmias to
aortopathies. Their experience provides insights for international counterparts when implementing similar
services in local healthcare centres to address the healthcare burden of ICCs. Leung et al. reviewed that the
genomic revolution in AML has ushered in a new era of personalised medicine, shifting the treatment
paradigm from a generalised approach, which has reached an impasse, to one that targets individual genetic
alterations . The integration of genomics, the detection of measurable residual disease, drug sensitivity
[9]
testing, and single-cell transcriptomics hold tremendous potential for optimising AML management
through personalised approach based on genomic and transcriptomic information. Chan et al. discussed
various aspects of YOD, including the importance of correct diagnosis of maturity-onset diabetes of the
young and monogenic diabetes, the use of genomic medicine in diagnosis and classification, and a clinical
trial called PRISM that aims to re-define insulin secretion and monogenic diabetes in Chinese patients .
[10]
This paper emphasises the importance of clinical observations and person-oriented care, maximising the
utility of genomic medicine in pursuit of early diagnosis and management of YOD.

(2) Advancing research in genomic science

To maximise the benefits of embedding genomics into routine clinical care, like the aforementioned
examples in rare and common diseases, effort in advancing research in genomic science through the
establishment and enhancement of standardised high-quality sequencing and analysis platforms with state-
of-the-art technologies is extremely important. HKGI has enhanced its genome sequencing capacity and
capability to increase patients’ accessibility to this advanced technology for precise diagnosis and
personalised clinical care. Chu et al. published their experience in designing the HKGI laboratory,
establishing the genome sequencing workflow, and enhancing the sequencing and analysis platforms . The
[11]
HKGI drew on recommendations and experience from the Medical Genome Initiative and other
sequencing projects to customise hardware and software components of the laboratory to optimise the
laboratory design and layout, sequencing workflow, quality assurance and data information management
system. A unidirectional workflow that employs a hybrid of manual and automated approaches for proper
laboratory practice and operation was established. A list of stringent quality assessments of the samples and
sequencing libraries was established. Systems for handling and housing different data types, such as Clinical
FrontEnd and LabKey Sample Manager, were tailored and optimised at par with international standards to
facilitate and standardise the patient recruitment process, clinical data collection, sample processing, and
biobanking. The genome sequencing workflow has been optimised to boost weekly throughput to
approximately 350-500 samples, enabling the processing of over 6,600 genomes in the first 24 months since
launch. The laboratory has been further enhanced to include cutting-edge techniques, such as long-read
sequencing. The performance of long-read GS in detecting variants in complex regions (“dark regions”) of
the human genome, which are challenging for short-read sequencing, was also illustrated in the example of
the polycystic kidney disease 1 gene. Such a precise diagnosis can inform the patient’s clinical management
and treatment choices, such as the use of Tolvaptan to slow down the progression of kidney failure. The
combination of long-read and short-read sequencing offers a more accurate understanding of the genome,
enabling the detection of complex genomic rearrangements, large insertions or deletions, and allelic
phasing. Broadly visioning the extent of further research advancement in favor of precision medicine, the