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Chu et al. J Transl Genet Genom 2023;7:196-212 Journal of Translational
DOI: 10.20517/jtgg.2023.22
Genetics and Genomics

Original Article Open Access

The Hong Kong genome project: building genome
sequencing capacity and capability for advancing

genomic science in Hong Kong

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Annie T. W. Chu , Amy H. Y. Tong , Desiree M. S. Tse , Cario W. S. Lo , Carol C. F. Lau , Cecilia Y. F. Li ,
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Nattily S. Y. Tai , Lap W. Wong , Gigi K. C. Choy , Belinda Y. Y. Tse , Su-vui Lo , Ken Sung , Mullin Yu ,
Hong Kong Genome Project, Brian H. Y. Chung 1,2
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Hong Kong Genome Institute, Hong Kong, China.
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Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong,
China.
Correspondence to: Dr. Brian H. Y. Chung, Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong
Kong, China. E-mail: bhychung@genomics.org.hk
How to cite this article: Chu ATW, Tong AHY, Tse DMS, Lo CWS, Lau CCF, Li CYF, Tai NSY, Wong LW, Choy GKC, Tse BYY, Lo
Sv, Sung K, Yu M, Hong Kong Genome Project, Chung BHY. The Hong Kong genome project: building genome sequencing
capacity and capability for advancing genomic science in Hong Kong. J Transl Genet Genom 2023;7:196-212. https://dx.doi.org/
10.20517/jtgg.2023.22
Received: 29 Jul 2023 First Decision: 9 Oct 2023 Revised: 12 Oct 2023 Accepted: 20 Oct 2023 Published: 27 Oct 2023
Academic Editor: Nathan A. Berger Copy Editor: Fangling Lan Production Editor: Fangling Lan
Abstract
Aim: The Hong Kong Genome Project (HKGP) is the first large-scale genome sequencing (GS) project in the Hong
Kong Special Administrative Region. The Hong Kong Genome Institute (HKGI) is entrusted with the task of
implementing the HKGP. With the aim to sequence 45,000-50,000 genomes in five years, it is the project’s goal to
provide participants with more precise diagnosis and personalised treatment, and to drive the application and
integration of genomic medicine into routine clinical care.

Methods: The HKGI Laboratory’s hardware and software components were customised to tailor to the needs of the
project. Sample handling and storage protocol, DNA extraction, and PCR-free GS workflow were developed and
optimised. Quality control indicators and metrics for assessing the quality of samples, sequencing libraries and
sequencing data were established.

Results: The Laboratory is designed to facilitate a unidirectional GS workflow to minimise the risk of contamination.
The Sample Manager system handles laboratory data generated from the HKGP samples and biobank. The

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
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