100,000 S'poreans' DNA, genes to be mapped for database
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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 84 - 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.
Yesterday, 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 - equivalent to about 200,000 high-definition movies.
To date, the project has enrolled 70,000 participants from existing cohort studies, and aims to recruit the remaining 30,000 at a rate of 300 participants per week, said Deputy Prime Minister Heng Swee Keat, who attended the signing ceremony yesterday.
The 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.
Mr Heng added that Precise has in place robust safeguards to protect the privacy and security of data collected from people.
Illumina has also invested heavily in safeguarding its software and researchers need approval to access anonymised data, said Prof Tan.
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, taking a fitness test using trackers, and answering a questionnaire on their lifestyle.
Together, the database will show a more complete picture of what Singaporeans' health outcomes look like, and the illnesses they are more at risk of, said Prof Tan.
Mr Heng added that precision medicine could make healthcare more cost-effective and further grow the nation's biomedical sciences sector.
Prof Tan said other biological samples, including saliva and stool samples, will be collected and frozen for future precision medicine research.
Asians 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.
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.
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.
By 2027, the National Precision Medicine programme is looking to sequence the whole genomes of one million Singaporeans.
Uncovering ailments, cures from DNA
CHRONIC DISEASES
• 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.
CANCER
• 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 can find ways to stop or slow its destructive pathway.
• For example, scientists recently identified two genes linked to schizophrenia.
Shabana Begum