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Chu et al. J Transl Genet Genom 2022;6:290-303 https://dx.doi.org/10.20517/jtgg.2022.02 Page 7

Chu et al. J Transl Genet Genom 2022;6:290-303 Journal of Translational
DOI: 10.20517/jtgg.2022.02
Genetics and Genomics

Review Open Access

Potentials and challenges of launching the pilot
phase of Hong Kong Genome Project

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Annie T. W. Chu , Jasmine L. F. Fung , Amy H. Y. Tong , Sin Man Chow , Kelvin Y. K. Chan , Kit San
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Yeung , Hei Man Lo , 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 Paediatrics 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, Fung JLF, Tong AHY, Chow SM, Chan KYK, Yeung KS, Lo HM, Hong Kong Genome Project,
Chung BHY. Potentials and challenges of launching the pilot phase of Hong Kong Genome Project. J Transl Genet Genom
2022;6:290-303. https://dx.doi.org/10.20517/jtgg.2022.02
Received: 17 Jan 2022 First Decision: 18 May 2022 Revised: 26 May 2022 Accepted: 9 Jun 2022 Published: 10 Jun 2022

Academic Editors: Andrea L. Gropman, Bridget Bax, Shu-Feng Lei Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Genomic medicine and precision medicine initiatives have taken centre stage in scientific, clinical, as well as health
economics and utility research on the global scene for the past decade. It is clear the important role genomic
advancement has played in enhancing diagnostic rate, streamlining personalised treatment, and improving efficacy
of the overall clinical management of undiagnosed, rare, and common diseases for humankind. The Hong Kong
Genome Institute (HKGI) was established in May 2020 within the Food and Health Bureau, Hong Kong Special
Administrative Region, to integrate genomic medicine into mainstream healthcare. The main goals of setting up
HKGI are to (1) improve the diagnostic rate and future care for individuals affected by undiagnosed diseases and
hereditary cancers using whole genome sequencing; (2) advance research in genomic science; (3) nurture talents
in genomic medicine; and (4) enhance public genomic literacy and overall engagement through the launching of
the Hong Kong Genome Project (HKGP). In this paper, we review the current landscape and specific challenges
encountered during the construction of the infrastructure and implementation of the pilot phase of HKGP. Through
reviewing what has been achieved and established to date, and the potentials and prospects that have emerged in
the process, this paper will provide insights into planning the main phase of HKGP, and considerations for our
international counterparts when building similar projects.

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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