Taking the first steps towards advancing precision health in Asia

From telemedicine to electronic health records, the healthcare industry has seen rapid adoption of digital health technologies. Vast amounts of data – from genetic to clinical – are being made available to medical professionals to aid them in confirming patient diagnoses.

Yet few Asian datasets are available.  

PRECISE-SG100K is a flagship project in Phase II of the National Precision Medicine (NPM) Programme to study the genetic makeup of 100,000 consenting Singaporeans.

This study aims to improve patient outcomes through new insights into the Asian genome and accelerate data-driven healthcare solutions by identifying the social, environmental, lifestyle and genetic factors associated with diseases prevalent in Singapore. These include chronic illnesses like diabetes and hypertension, as well as genetic conditions such as familial hypercholesterolemia.

Professor Patrick Tan, Executive Director of PRECISE, highlighted that having a multi-ethnic Asian reference genome database is a valuable resource for Singaporean researchers and clinicians to tap into to improve the genetic analysis of Asian populations and management of patients with genetic conditions.  

Chief Executive Officer, SGInnovate, Dr Lim Jui; Executive Director, Precision Health Research, Singapore (PRECISE), Prof Patrick Tan; Director, SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Senior Consultant, Genetics Services, KK Women’s and Children’s Hospital (KKH), Dr Saumya Shekhar Jamuar; Deputy CEO and Chief Technology Officer, Diagnostics Development Hub (DxD Hub), hosted by A*STAR, Dr Ruifen Weng; CEO, Consortium for Clinical Research and Innovation, Singapore (CRIS), ED, Singapore Clinical Research Institute (SCRI), Interim ED, Advanced Cell Therapy and Research Institute, Singapore (ACTRIS), A/Prof Danny Soon. (Photo credit: PRECISE) 

Prof Tan was speaking at an event organised by PRECISE and DxD Hub. The session offered insights into the development of diagnostic products and therapeutics, derived from the NPM datasets and by tapping on DxD Hub’s productisation expertise. 

Typically, researchers and clinicians would rely on existing datasets which are predominantly from Western populations, which can result in an increased risk of misdiagnosis or mismanagement of Asian genetic diseases.  

“When you try to extrapolate medical findings from the West to Asia, they’re less accurate,” Prof Tan explained. This creates a greater chance for error, increasing the risk of doctors potentially misdiagnosing their patients," he added.  

SG10K_Health was generated through NPM Phase I, the world’s largest multi-ethnic Asian reference database containing 10,000 genomes. 

Singapore’s diverse population of ethnicities ranging Chinese, Malay and Indian, represent least 80% of genetic variation in Asia.  

“Apart from the three major ethnic groups, Singapore has good electronic health records, making this one of the few places where technology capabilities can be scaled,” Prof Tan said. He highlighted that the expansive dataset would strengthen Singapore’s unique position in the healthcare industry. 

The PRECISE-SG100K study, which has finished whole-genome sequencing of 50,000 individuals as of December 2023, is on track to complete the DNA mapping of 100,000 Singaporeans by early 2025. 

While analysing the datasets can unveil new findings, they can only contribute to improved patient outcomes and the wider healthcare landscape when harnessed for the development of diagnostics and therapeutics. 

“Until you can bring insights to the marketplace through a test the patient can benefit from, (building the datasets) can seem like an untapped opportunity,” said Ms Irene Cheong, Acting Chief Executive Officer, DxD Hub. 

The genomic, phenotypic and clinical data collected will unveil valuable insights such as disease risk factors and biomarkers. 

While these findings need to be translated into proper diagnostic tools, Biotech and pharmaceutical companies may face challenges in integrating the data into products that are clinically valid and regulatory compliant due to limited funds or technical expertise. Moreover, the process of translating research into diagnostic tools can be financially intensive. 

The Memorandum of Understanding inked between PRECISE and DxD Hub aims to bridge the gaps between research and productisation. 

At the event, Prof Tan shared the use case of PRECISE having facilitated the partnership between SingHealth Duke-NUS Institute of Precision Medicine (PRISM), KK Women’s and Children’s Hospital (KKH) and DxD Hub to develop a customised genetic test panel to screen for carriers of common severe recessive diseases among Singaporeans. 

Dr Saumya speaking at the event. (Photo credit: PRECISE)

Dr Saumya Shekhar Jamuar, Director, SingHealth Duke-NUS PRISM and Senior Consultant, Genetics Service, KKH, shared that existing commercial test kits for recessive genetic diseases such as thalassemia may not be relevant for Asian populations and were costly for large-scale implementation.  

“This gave us the idea of designing an Asian-inclusive carrier screening panel,” he added. 

Dr Saumya shared that with the dataset and insights PRECISE-SG100K has generated through the NPM programme, researchers can now systematically evaluate the prevalence of genetic conditions in the local population.  

While doctors and scientists are skilled in clinical and research areas, it is corporations and industry players, equipped with technical expertise and scalable manufacturing capabilities, that will transform research findings into medicines and effective products that can be used safely in humans globally. 

Acting CEO of DxD Hub, Ms Irene Cheong, speaking to the audience. (Photo credit: PRECISE) 

“As A*STAR’s first innovation platform, one of the things we want to do is to help our local enterprises with very good diagnostic tests or digital health solutions come into play in the local ecosystem,” Ms Cheong added. 

Developing digital diagnostics is a complex endeavour. Digital healthcare startups and companies require access to high-quality data, such as that from the NPM, to develop relevant and feasible models, but need to ensure responsible handling of datasets.  

During the discussion on how precision medicine is revolutionising diagnostic development, Dr Weng Ruifen, Deputy Chief Executive Officer and Chief Technology Officer, DxD Hub, cautioned, “You need access to good quality data to even develop an algorithm. And when you have access to these well curated datasets, how do you ensure data security?”  

Even if companies are knowledgeable about workflow processes in healthcare, other challenges abound. In the ecosystem, it is vital to ensure data security and proper regulatory frameworks as well as being able to navigate the commercial space, such that projects can potentially be adopted by healthcare providers. 

“Beyond our immediate collaborations, we envision NPM as a platform for meaningful interactions, where we catalyse partnerships to pursue collaborative research that advances precision medicine insights and strengthens Singapore’s status as the region’s leading medical hub to deliver precision medicine-based treatments,” said Prof Tan.  

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