Making a Difference with Genomic Medicine

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“The HKGI internship guided my career path towards becoming a clinician and making a difference for patients with undiagnosed diseases.” 

Dr Ng Hoi Chak
Resident
HKGI 2022 Summer Intern 

 

Dr Ng’s journey into genomic medicine began during his fourth year of medical school when he encountered a baby suffering from an unexplained condition. Despite exhaustive investigations, no diagnosis emerged, until genomic testing supplied the pivotal answer that made targeted treatment possible. The family’s relief deeply moved Dr Ng, and the episode convinced him of the power of genomic medicine to solve clinical mysteries. 

Motivated by a desire to supplement what he learnt during his Master of Public Health, Dr Ng joined HKGI’s internship in the summer of 2022 to explore the interplay between genomics, clinical medicine, and population health. The HKGI internship fostered his development into a clinician who not only understands genomic medicine but also its broader implications for healthcare. 

 

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A Deep Dive into Genomics 

Through participation in HKGI research, Dr Ng gained deeper insight into HKGI’s broader public health mission, understanding how HKGI’s Southern Chinese database addresses the significant burden of undiagnosed diseases by filling critical knowledge gaps in predominantly European-based genomic data. 

Through learning how PCSK9 inhibitors, a new cholesterol lowering drug, were developed from studies of the rare genetic condition familial hypercholesterolemia, Dr Ng discovered that research on rare diseases can unlock benefits for the wider population. 

Dr Ng’s HKGI experience encompassed far more than technical skills. In addition to mastering laboratory techniques, genomic data analysis, and variant interpretation, he learnt about genetic counselling principles, explaining uncertainty to patients, and managing family expectations. He came to appreciate that genomic testing is iterative: today’s “no answer” can lay the groundwork for tomorrow’s breakthrough. “I find it deeply rewarding when I successfully help patients and their families navigate the evolving process of genomic testing,” Dr Ng said. 

Effective scientific communication also became a central part of his training. “I learnt to explain scientific concepts to patients from diverse backgrounds.” Dr Ng also assisted experts in developing advocacy materials for HKGP, translating complex genomic concepts for stakeholders with varying levels of understanding. In his clinical practice, he applies these skills to empower patients, offering clarity as they navigate the complexities of genomic testing. 

 

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Looking to the Future 

As a clinician, Dr Ng actively identifies patients for HKGP and bridges genomics with routine patient care. His journey exemplifies HKGI’s success in cultivating professionals who apply genomics technically, communicate it effectively, and understand its broader implications, bringing genomics and medicine together to transform healthcare. By continuing to integrate genomics into everyday practice, Dr Ng is helping to ensure that tomorrow’s patients will encounter fewer diagnostic dead ends and far more targeted solutions. 

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