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Page 99 Chu et al. J Transl Genet Genom 2023;7:196-212 https://dx.doi.org/10.20517/jtgg.2023.22

Laboratory handles and analyses approximately 350-500 samples per week, the majority of which are whole blood.
During the first 24 months since the launch of the HKGP, 12,937 participants and their family members (6,680
genomes) have been recruited and sequenced. The sequencing capacity of the Laboratory has been further
enhanced to include the latest technologies, such as long-read sequencing and multi-omics in order to meet the
target of the HKGP.

Conclusion: HKGI Laboratory established a robust GS workflow for the HKGP. The clinical utility of GS will bring
precision medicine into routine clinical practice.

Keywords: Hong Kong Genome Project (HKGP), genome sequencing, genomic medicine, precision health,
laboratory establishment

INTRODUCTION
Advances in DNA sequencing technologies have fueled the genome sequencing era and led to the initial
[1]
draft of the human genome sequence and, more recently, the telomere-to-telomere genome assembly .
Disease-risk and treatment response studies provided clinical interpretation of genomic variants and
[2,3]
[4]
paved the way for the development of genomic diagnostics and therapies . Substantial improvements in
next-generation sequencing and bioinformatic tools have significantly shortened sequencing times, yielded
higher sensitivity, specificity, and accuracy, better coverage, and reduced cost , democratising genome
[5,6]
sequencing from the individual level to the population scale. This is reflected in the launch of national
genome sequencing initiatives around the world, driving genomic medicine and improving healthcare
[7]
through the collection, storage, and application of genomic data . In 2015, China launched its first
Precision Medicine Initiative , followed by neighboring Asian countries such as Japan [9,10] and
[8]
[13]
Thailand [11,12] . Other national genome projects have also emerged in France , the United Kingdom [14-17] ,
Denmark , Australia [19-21] , Canada , the United States , Saudi Arabia , and Turkey [25,26] . The scale of
[23]
[22]
[24]
[18]
these projects ranges from sequencing twenty-five thousand to one hundred million genomes using various
genomic technologies, including DNA microarrays, RNA sequencing, targeted gene panel sequencing,
exome sequencing (ES), and genome sequencing (GS) [7,27,28] , spanning four to fifteen years. As more genome
projects are underway, we expect the catalog of human genomic variations and functional annotation to
grow steadily [29,30] , marking a major step towards embedding genome sequencing into routine clinical care.
Hong Kong has been a Special Administrative Region of the People's Republic of China since 1997. Hong
Kong continues to have its own economic, legal, social, healthcare and welfare infrastructures despite being
a recognised financial hub with modern city standards and a high standard of living. The latest population
forecasts released by the Census and Statistics Department predict an increase in Hong Kong's population
[31]
from 7.70 million in 2023 to 8.10 million in 2039 . Over 90% of the population of Hong Kong is of ethnic
Chinese descent, according to the 2016 by-census , with other ethnic groups making up the remaining 8%.
[32]
Hong Kong is viewed as a prime location to carry out studies on Southern Chinese populations' health due
to this relatively homogeneous population. Shouldering about 90% of the inpatient needs of the entire
community, the Hospital Authority provides a strong public healthcare safety net through 43 hospitals and
institutions, 49 Specialist Out-patient Clinics (SOPCs), and 74 General Out-patient Clinics (GOPCs). With
a well-established dual-track healthcare system, the remaining population also has easy access to privately
funded healthcare.

Hong Kong has embarked on her journey of developing genomic medicine. Following the release of the
Policy Address in 2017, the Hong Kong Special Administrative Region Government established a Steering
[33]
Committee on Genomic Medicine . Upon reviewing the local landscape, the Committee put forward the