Genomic medicine is an important sphere in contemporary medicine and scientific research, with huge potential in disease screening, accurate diagnosis and personalised treatment.
“Genome” refers to all the genetic materials in an organism. The human genome consists of over 3 billion DNA bases, of which there are four types that we call A, T, C and G for short. These bases, being the basic unit of DNA, convey genetic information through the various sequences that determine our physical characteristics and potential risks of developing different diseases.
Whole Genome Sequencing (WGS) is the technology that enables medical professionals and scientists to “read” the sequence of all the DNA bases in the human genome, and identify differences in the sequences called “genetic variants”. Some genetic variants might be pathogenic, i.e. likely to cause disease, and to this knowledge will be used to develop more effective treatment plans for patients. Thus, genome projects of various scales and focuses have been carried out in many regions around the globe, such as Singapore, the United Kingdom, the United States, and other European countries.
Each year, many people in Hong Kong suffer from hereditary diseases, including undiagnosed diseases and hereditary cancers. In view of this, the Hong Kong Genome Institute (HKGI) was established by the Food and Health Bureau in 2020 to implement the Hong Kong Genome Project (HKGP) so that patients could benefit from more precise diagnoses and more effective treatment. HKGP also aims to nurture talents, promote the development of genomic medicine in Hong Kong and advance the health of the general population in the long run.
Themed “See the Unseen”, HKGP is the first large-scale genome sequencing project in Hong Kong. In collaboration with the Department of Health, the Hospital Authority and local universities, the Project recruits eligible patients and their family members on a voluntary basis. The Project is set up to help patients and their families look for any disease-causing genetic variants in their DNA sequences, that is, to “See the Unseen”. This intricate and complex mission will be carried out through WGS analysis.
In our journey to “See the Unseen”, the four DNA bases – A, T, C and G – will join us to learn about some of the causes of genetic diseases.
In total, HKGP plans to conduct Whole Genome Sequencing for 20,000 cases in two phases, the pilot phase and the main phase.
The pilot phase will recruit 2,000 cases of undiagnosed diseases and hereditary cancers, and WGS will be conducted for the patients and their families. After the pilot phase, the scope of the main phase will be expanded to cover other hereditary diseases, as well as research cohorts who might benefit from WGS. The main phase will aim to finish sequencing for an additional 18,000 cases. Further details will be announced in due course.
Since some cases may involve two or more samples, depending on clinical and research needs, it is estimated that HKGP will sequence 40,000 to 50,000 genomes in total.
Data collected from HKGP will be used for clinical applications. Anonymised data will be used for approved medical research under stringent scrutiny, enabling clinicians and scientists to better understand the relationship between genomes and different diseases. The knowledge and experience accumulated over HKGP will play a crucial role in fostering future medical development in Hong Kong.
Overall coordination and execution of the Project is carried out by:
HKGI collaborates with various stakeholders* to implement the Project:
For the pilot phase, HKGI has set up Partnering Centres in three hospitals* under the Hospital Authority to recruit eligible participants. All of them have to be referred by clinicians at Partnering Centres to join the Project.
* Names are listed in alphabetical order
The Project team comprises clinicians, nurses, scientists, bioinformaticians and genetic counsellors. Their duties include:
- Enrolling suitable participants;
- Explaining project details and addressing participants’ queries before they sign consent forms;
- Collecting samples, performing Whole Genome Sequencing, and analysing the genomic data;
- Preparing Whole Genome Sequencing results report for participants; and
- Providing genetic counselling and discussing results report with participants