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Page 291 Chu et al. J Transl Genet Genom 2022;6:290-303 https://dx.doi.org/10.20517/jtgg.2022.02

Keywords: Hong Kong Genome Project, genomic medicine, whole-genome sequencing, informed consent, genetic
counselling

INTRODUCTION
The rapid advancement in genomic medicine has offered huge potential and opportunities in accurate
diagnosis, personalised treatment, and efficacious surveillance and prevention of both undiagnosed, rare,
and common diseases. Since the completion of the renowned Human Genome Project in 2003, progresses
in next-generation sequencing and bioinformatic technologies have accelerated the execution of large-scale
human genome projects.

A growing number of countries have invested immense resources to utilise the human genome in view of
[1]
the importance of integrating genomic medicine into future medical and health development . Precision
medicine initiatives involving sequencing of thousands to millions of human genomes are being launched
worldwide, and experiences are shared via publications and exchanges in international conferences. The
largest projects in terms of scale are the 1+ Million Genomes Initiative, which is a collaboration among 24
European Union countries; and the All of Us Research Program of the United States (US), both aim at
recruiting and analysing genomes of one million participants .
[1]

Many of these genomic initiatives strategically focus on rare disease patient cohorts [Table 1]. Affected
individuals are often difficult to diagnose and have very long diagnostic journeys, and thus they are more
likely to benefit from comprehensive and unbiased genome sequencing. Studies did not only show the
diagnostic and clinical utility of genome sequencing in rare disease cohorts in ending the diagnostic odyssey
at a personal level, but there is also the extended impact on the social and health economics aspects .
[2-4]
These initiatives have facilitated the reform of healthcare in numerous areas. For example, the 100,000
Genomes Project led by Genomics England has proven to be a well-recognised success, based not only on
their gene discoveries and scientific publications, but also by their impact on the nation’s healthcare
ecosystem . The Project has enabled and driven the necessary changes and reform in the National Health
[5]
Service (NHS) by offering whole-genome sequencing as routine.

Challenges and barriers of genetic services development: global and local perspectives
Although countries such as the United Kingdom, US, and China strive to be global leaders by launching
ambitious population-based genome sequencing projects, experts in the field who are heavily involved
pointed out that many overlooked the importance of understanding and managing the “public appetite”
while designing the projects . In an era in which the public highly values data security and personal
[6]
privacy, public trust remains a universal challenge for implementing any genome initiatives and campaigns.

Albeit the difficulties and uncertainties in managing public trust and confidence, the design of these
national whole-genome sequencing projects shares one humane mission - the elimination of the major
barriers to accessing genomic services. Cost and limitations of an accessible service infrastructure for
targeted patients have remained significant hurdles to genomics and genetics services worldwide.

Prior studies pinpointed patients’ difficulties in getting proper and timely referrals to genetic testing services
(for rare, undiagnosed, or hereditary cancer syndromes) as a universal obstacle. Pragmatic difficulties in
many institutions lie in the lack of well-established multi-disciplinary genetic clinics and clearly delineated
triage system for managing referrals and arranging timely genetic consultation .
[7-9]