NEW YORK (GenomeWeb) – Hong Kong plans to sequence and analyzes the genomes of 20,000 patients and, in some cases, their families as part of the Hong Kong Genome Project (HKGP), according to a paper submitted by the Hong Kong Food and Health Bureau this week for a discussion by the Legislative Council next Monday.
The Hong Kong government has initially earmarked HK$682 million (US$87 million) to meet the project cost of the HKGP and an average of about HK$87 million (US$11 million) per year for six years, starting in 2019-20, to support the operation of a government-owned company to implement the project, including patient recruitment, sample handling, sequencing and interpretation, bioinformatics, and genetic counseling.
According to the paper, Hong Kong's Steering Committee on Genomic Medicine had recommended a large-scale genome sequencing project last year to enhance clinical applications of and research into genomic medicine.
In her 2018 Policy Address last October, Hong Kong Chief Executive Carrie Lam said that she would follow the recommendation and provide government funding for the project, adding that the Food and Health Bureau would establish an expert working group to finalize relevant details, which are included in this week's paper.
The HKGP plans to perform whole-genome sequencing on patients, patient families, and research cohorts and to use the data to help with clinical management, such as diagnosis, treatment, or prognosis. Participants can also consent to have their anonymous genomic and clinical data be used for medical research.
The goal of the project is to cover 20,000 patient cases, where each case may involve several genome sequences, for example tumor-normal genomes for cancer patients or family trio genomes for patients with inherited diseases, for an estimated total of 40,000 to 50,000 genomes.
A pilot phase of 2,000 cases would focus on undiagnosed diseases and cancers, while the main phase of the project would tackle 18,000 cases, including disorders covered in the pilot phase and other diseases as well as research cohorts "which would benefit from whole-genome sequencing," according to the paper.
Participants would be referred by the Hospital Authority, the Department of Health, and local universities, which would also provide clinical care and genetic counseling post-sequencing. "Details of the project design and scope would be further defined by the working group and approved by the steering committee," the paper stated.
Approved researchers would be able to access anonymized data for studies in cancer genomics, pharmacogenomics, phenotype-genotype associations, epigenomics, and other areas, with the expectation that the required databases would be implemented in phases.
One of the objectives of the HKGP is to increase the diagnostic rate for patients with uncommon genetic disorders, and another to gain new insights into genomic changes that cause a patient's cancer in order to improve diagnosis and treatment selection.
In addition, data from the HKGP would help generate quality genome data for the Chinese population, which has been missing from global medical research. The project would also enable "big data analysis for biomedical research and innovation" and "create synergies with the biomedical technology and the information and communications technology clusters accommodated in the Hong Kong Science Park."
To coordinate the implementation of the HKGP, the Hong Kong government should set up a wholly-owned company, tentatively named the Hong Kong Genome Institute, the paper recommended.