SINGAPORE - The Republic is embarking on a mission to map the DNA and the complete set of genes of 100,000 Singaporeans - to unravel clues that will further the population's health and well-being.
By scrutinising genes and dissecting biological processes at the molecular level, doctors and researchers can pinpoint the underlying causes of cancer and chronic ailments, and identify new ways to prevent or slow down disease progression.
This would help to pave the way for new drugs, faster diagnostics and targeted treatments through precision medicine, said Professor Patrick Tan, executive director of Precision Health Research, Singapore (Precise), the entity that will helm the population study.
Over the next three years, the whole genomes of 100,000 healthy Singaporeans - between the ages of 30 and 80 - will be sequenced and analysed to create one of Singapore's largest research data sets.
Malay and Indian participants will comprise 40 per cent of the 100,000, and the rest will be Chinese.
The project, called SG100K, will end up as one of Asia's leading reference genome databases since Singapore's ethnic diversity captures more than 80 per cent of Asia's diversity.
On Thursday (May 26), Precise and genomics technology leader Illumina inked a partnership agreement to kick-start the SG100K effort.
The whole genome sequences will amount to 20 petabytes of data - which is equivalent to about 200,000 high-definition movies. The human brain can store around 2.5 petabytes of memory.
To date, the project has enrolled 70,000 participants from existing cohort studies, and is working towards recruiting the remaining 30,000 participants at a rate of 300 participants per week, said Deputy Prime Minister Heng Swee Keat, who attended the signing ceremony and toured Illumina's premises in Woodlands on Thursday.
Mr Heng added that Precise has in place robust safeguards to protect the privacy and security of data collected from people.
For one, Illumina has invested heavily in safeguarding its software, and researchers need approval to access the anonymised data, said Prof Tan.
The remaining 30,000 participants will be recruited mainly through referrals from the healthcare clusters, and from those who sign up for The Health For Life In Singapore population cohort study, led by Lee Kong Chian School of Medicine.
Under the SG100K project, participants' blood samples will be sent for whole genome sequencing.
The genomic data will also be linked to other physical health measurements taken from the participants. This means that participants have to undergo a whole day of tests, which include measuring blood sugar and cholesterol levels, a fitness test using trackers, and answer a questionnaire on their lifestyle.
Together, the database will enhance precision medicine here because it can show a more wholesome picture of what Singaporeans' health outcomes look like, and the illnesses they are more at risk of, said Prof Tan.
Mr Heng added: "The understanding of genomic-clinical data linkages allows the targeting of therapies to patients who are most likely to respond, avoid severe drug reactions, and maximise drug efficacy by prescribing the optimal dose."
He said precision medicine can improve patients' health outcomes and make healthcare more cost-effective.
Prof Tan said other biological samples, including saliva and stool samples, will be collected and frozen for future precision medicine research, he added.
Illumina's chief commercial officer Susan Tousi said: "Genomics can help to deliver on the immediate needs of today's patient, but also build a database that can be analysed for insights to help tomorrow's patient."
Many conditions, such as cancer and heart disease, can present differently in Asians, who remain under-represented in genomic programmes.
Prof Tan has previously said that usage of the wrong genome database from other populations, such as the Caucasian groups, can result in misdiagnoses.
And with chronic illnesses on the rise with an ageing population, precision medicine and genetic clues can help to optimise treatments and disease prevention methods.
Precision medicine is one of the key goals of Singapore's Research, Innovation and Enterprise 2025 vision in the areas of health and biomedical sciences.
Singapore is currently in the middle of its 10-year National Precision Medicine strategy. In 2019, the precision medicine programme completed a baseline data set with whole genome sequences of 10,000 Singaporeans.
Illumina's sequencing instruments generate most of the world's sequencing data. Home-grown biotech company NovogeneAIT Genomics Singapore has been appointed by Illumina to carry out the genome sequencing for the 100,000 people.
The local firm will use Illumina's advanced sequencing machines and systems to complete the DNA mapping. One such machine is the Nova Seq 6000 which can sequence a whole human genome in under an hour.
The SG100K project will also pave the way to further strengthen Singapore's biomedical sector with the creation of jobs and companies in areas including genetics, diagnostic devices, drug development and data analysis.
Once researchers start analysing genetic data, they may come across a new biomarker or pattern that they would want to investigate further – and that could give rise to a spin-off company, said Ms Tousi.
Mr Heng said Singapore's biomedical sector accounts for $18 billion of the nation's gross domestic product and more than 25,000 jobs.
By 2027, the National Precision Medicine programme is looking to sequence the whole genomes of one million Singaporeans.
Uncovering ailments and cures from DNA
Scientists can analyse a person’s full set of genes and DNA to find out if he is at risk of developing diabetes or cardiovascular disease. They will also consider the person’s lifestyle choices before coming to a conclusion.
One in 250 Singaporeans is afflicted with familial hypercholesterolemia, an inherited form of high cholesterol. Patients with this disorder are at high risk of heart disease largely due to their genes. They may need more affordable treatments, from their teenage years, to reduce cholesterol levels.
A small percentage of seemingly healthy individuals or their family members are at risk of serious medical conditions such as cancer or a rare disease.
Since cancer is a disease of the genome, studying genetic data helps to provide new insights on detecting the illness early, diagnosing it and choosing the best treatment.
For example, 20 per cent of lung cancer cases have a specific mutation that reacts favourably to a particular treatment. This allows for targeted therapy.
Developing new drugs or treatments
By zeroing in on a mechanism that drives a disease, researchers could find ways to stop or slow its destructive pathway.
For example, scientists recently identified two genes that are linked to schizophrenia.