The completion of the Human Genome Project in 2003 marked a new era of medicine. A total of 3 billion DNA molecules were sequenced, uncovering the secrets of human physiology. Such milestone has also sparked the development of genetic tests and gene-targeting therapy.

Genomics has benefited numerous fields of medicine since then. This includes infectious diseases and cancer. For instance, the ability to sequence the genome of a microbe enable physicians to analyse its susceptibility to different antimicrobial drugs. The discovery of BRCA1 and BRCA2 genes and their association with breast cancer may identify which patients should go to screenings more often.

Macau’s first genomic database predicts disease-risk for the population in the city


Despite the advancements of genetic medicine in Western countries, the Asian population has yet to fully utilise the technology due to inherent genetic differences.

It was not until 2014 that the Hong Kong Polytechnic University (PolyU) collaborated with the Macau University of Science to establish Macau’s first genomic database. The database aims to record human genetic sequence variations that are prevalent in the Chinese population in Macau.

PolyU‘s Department of Applied Biology and Chemical Technology and the Faculty of Health Science and University Hospital of the Macau University of Science and Technology (MUST) jointly established Macau's first Genome Database in 2014. (Photo Credit: PolyU)
PolyU‘s Department of Applied Biology and Chemical Technology and the Faculty of Health Science and University Hospital of the Macau University of Science and Technology (MUST) jointly established Macau's first Genome Database in 2014. (Photo Credit: PolyU)

“The database facilitates the study of the association between genetic variations and diseases among the Macau population,” said Professor Terence Lok-Ting Lau, Director of Innovation and Technology Development at PolyU, who led the research project.

The data was sourced from over a thousand volunteers from Macau. Currently, these data can be used to predict disease-risk for 16 common diseases. By comparing these data to their Western counterparts, researchers identified the population in Macau has a lower genetic risk of Alzheimer’s but higher risk of cancers, including breast, lung, prostate and ovarian cancers.

A personalised disease risk profile enables doctors in providing highly optimised healthcare and advice


However, one should note that identifying a gene that is associated with a disease does not equate to a causal relationship. Diseases can arise from multiple mutated genes. Therefore, genomic profiling should be used as a risk indicator rather than a prediction for certain diseases for a patient.

“If you have a high genetic risk, for example, it does not mean you’re guaranteed to get the disease, so do not scare yourself to death,” explained Dr Gregory Cheng, oncology and haematology specialist of University Hospital of Macau.

The management of chronic diseases such as diabetes can also benefit from genetic profiling. A personalised risk report enables patients to come up with more informed decisions regarding their healthcare planning. Meanwhile, pharmacogenetics, which studies the genetic basis for drug-human interactions, enable patients to receive medication that works best for them based on their genetic makeup.

For the Macau-specific genomic database, researchers are hopeful that the information garnered can be used to guide government healthcare policies by offering insights such as the disease burden of the community. The second phase of genomic data collection is due to start where the team aims to collect data from another 20,000 individuals over the next 2 years.

The concept of genetics-guided healthcare appears to be distant from the general public. Seemingly, one can only utilise the technology in centres with abundant resources and state-of-the art technology.

However, this might not be the case in the near future. One example of this is 23andMe, a self-testing DNA kits utilising human’s saliva. The test can be carried out at home and the manufacturers can provide a genetic analysis of health risks after they receive samples from the users. One day, genetic testing may be a convenient point-of-care service that can be completed at a low cost by general physicians all over the world. MIMS

Read more:
Does race matter? Genomic sequencing may widen racial disparities in cancer care
5 Singaporean researches seeking to eradicate diseases at the genetic level
Rise of consumer genetic testing in China as parents try to uncover children’s talents

Sources:
https://www.polyu.edu.hk/web/en/media/campus_reports/index_id_6136.html
https://issuu.com/hongkongpolyu/docs/polyu_milestones_mar_2016/25
https://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45
http://www.prescriber.co.uk/article/genomics-future-healthcare-medicine/
http://macaudailytimes.com.mo/breakthrough-genome-database-launched-for-public-healthcare-policies.html
http://www.polyu.edu.hk/cpa/polyumilestones/16Mar/pdf/201603_PolyU_Milestones.pdf