Page 35 - Read Online

Page 301 Chu et al. J Transl Genet Genom 2022;6:290-303 https://dx.doi.org/10.20517/jtgg.2022.02

participants aged 12-17, respectively. (B) Examples of video on HKGP webpage (bilingual subtitles in Traditional Chinese and English).
(C) Leaflet (available in Traditional Chinese and English). (D) Souvenir.

Learning opportunities for genomic professionals
Other than paving the way for the genetic counsellors, HKGP also serves as an important platform to
provide continuous enrichment to clinicians, laboratory scientists, bioinformaticians, genomic variant
curators, nurses and trainees. The Project offers experiential learning opportunities to different specialities
in a collaborative environment.

One of the challenges of working with various professionals from a multi-disciplinary background is the
lack of a common language; it is understandable that specialities may use different vocabularies to provide
descriptions of the same observed phenotype. Hence, HPO has become the standard for phenotype
exchange in the age of genomic medicine, describing human phenotypes systematically and enabling
[29]
computational inference in genotype-phenotype analyses . It has been used extensively to support
diagnostic interpretation of genomic variations in rare diseases and adopted by many large-scale genome
[30]
projects such as the 100,000 Genomes Project and the Undiagnosed Disease Network . In alignment with
international standards, the HKGP also adopts the use of HPO terms to record clinical features, facilitating
effective communication amongst professionals of diverse backgrounds.

Apart from using HPO as the “common language” amongst professionals and the computational analysis
system, HKGP takes on a multi-disciplinary approach in achieving the project outcomes. Post-analysis
multi-disciplinary team (MDT) meeting is one of the core components of the HKGP workflow, allowing
inputs from relevant specialists to achieve consensus on the genetic diagnosis and patient’s management
plan. For example, genomic variant curators will work closely with the referring clinicians to determine the
cases that would require further in-depth discussion in an MDT meeting, where the referring clinician will
present phenotypes of the participant and the genome variant curators will present the variant finding and
interpretation.

Further to providing means of communication for a diverse group of professionals, we hope HKGP serves
as an active, experiential learning platform to enable members and trainees to appreciate and familiarise the
integration of genomic medicine into practices.

CONCLUSION
HKGI takes on the pioneering role in developing genomic medicine in Hong Kong. Through the launch
and implementation of HKGP, it aims to overcome the major hurdles of cost and lack of access to WGS in
the existing services. It provides free-of-charge WGS for individuals and families suffering from the clinical
odyssey of rare diseases, hereditary cancers, and other undiagnosed diseases. Since HKGP is the first large-
scale genome project in Hong Kong, it lays the groundwork for developing the infrastructure and workflow
to prepare for the integration of genomic medicine into routine clinical care in the foreseeable future. It also
equips the existing workforce, trains the next-generation of genomic experts, and prepares the general
public for the age of precision medicine.

With the tight timeline to recruit and analyse an ambitious number of genomes, this is only the beginning
of a challenging and farsighted mission. To measure the success of the programme, a panel of international
scientists will evaluate the structure, process and outcome of the HKGP independently. We look forward to
sharing the evaluation outcome and other progress of the Project as separate publications and case reports.
With the perseverance, unyielding efforts, and dedication of all the stakeholders, we aim to live up to our