“Genetics” and “Genomics”

Genomics beginning with the “Human Genome Project”

In 1990, scientists from different countries began to study all the DNA in the human body, and launched a large-scale scientific exploration project – the “Human Genome Project”.  The entire study took more than a decade and the first human genome blueprint was completed in 2003.


Scientists combined the anonymised data from 13 volunteers to form a “human reference genome” for use. Researchers from around the world can now compare data from sequencing an individual’s DNA with this “human reference genome” to identify differences, i.e. genetic variants.


The completion of the “Human Genome Project” opened the door to a new frontier in medical and scientific fields, one that could be used to advance genomics as a science.


From “Genetics” to “Genomics”

In the past, people studying genetics would investigate the structure and function of genes one by one. Since the “Human Genome Project” was completed and Whole Genome Sequencing technology has become mature, genomics has become a frontier in scientific research. Instead of probing genes one by one, scientists can now examine the entire genome and unravel the links, interactions, and roles among different regions of the genome.


The importance of genomic data

Since the completion of the first blueprint of human genome, genomics has quickly blossomed as a field, but scientists have yet to fully resolve the complex relationships between the genome and diseases.  Therefore, more case studies with patients and genomic data are vital for research development.


To  date, most of the genomic research data came from people in Western countries with European ancestry, which may not be the most useful reference to patients in Hong Kong. To better benefit patients and their families in Hong Kong, HKGP hopes to establish a genome database of local population. This effort will also promote local genomics development as scientists and clinicians reveal and understand more links between genome and diseases.