Temasek Foundation–KKH Genomics for Kids in ASEAN programme expands access to genomic services for rare diseases in Singapore and the region

• Transformed genetic testing and diagnostic capability for rare diseases,  and expanded services to the region
• Achieved 52 per cent diagnostic success rate: exceeding international benchmarks and reducing diagnostic time from years to weeks
• Launched ASEAN’s first genomic database for precision medicine: tailored for the local population

SINGAPORE, 27 February 2026 – The Genomics for Kids in ASEAN programme, a regional collaboration between the KKH Maternal and Child Health Research Institute (MCHRI) and Temasek Foundation is transforming the landscape for rare disease diagnosis in the region.

Since its launch in 2022, the programme has provided genetic testing to 510 families across Singapore, Malaysia, the Philippines and Vietnam. It has achieved a diagnostic success rate of 52 per cent, higher than the international benchmarks of 25 to 40 per cent, and reduced the time to diagnosis from a global average of 7.6 years to weeks.

The programme’s achievements were shared at the annual KKH Rare Disease Day, graced by guest-of-honour Dr Janil Puthucheary, Senior Minister of State, Ministry of Education & Ministry of Sustainability and the Environment.

“Genomics for Kids in ASEAN programme represents a new model for regional healthcare collaboration. By improving access to genetics services, we are enhancing clinical capacity and capability to care for patients and families with rare disorders. We are creating a sustainable network of hospitals and research communities and establishing a genomic database unique to our ASEAN population,” said Associate Professor Tan Ee Shien, Programme Lead, and Head and Senior Consultant, Department of Genomic Medicine, KKH, “The ultimate goal is to advance precision medicine, using data from the ASEAN genomic database to ensure diagnostics and treatments are specifically tailored to the unique genetic makeup of our multi-ethnic population.”

Rare diseases are usually genetic and affect fewer than one in 200,000 individuals globally. In ASEAN, it is estimated that over 10 million people live with undiagnosed rare diseases¹. Many children afflicted with rare diseases remain undiagnosed. Without successful diagnosis and appropriate support, families often face years of uncertainty, multiple misdiagnoses and visits to different specialists. Genetic expertise remains critically limited in ASEAN, with most countries having under one specialist per million people.

Regional impact: Ending the diagnostic “odyssey”

Genomics for Kids in ASEAN has delivered targeted life-saving interventions, reducing a prolonged diagnostic journey -- averaging seven years, visiting eight different specialists and two to three misdiagnoses:

• Singapore: 53 per cent of 214 families have received diagnosis. Among them, a child with skeletal dysplasia was diagnosed with Morquio A syndrome due to GALNS gene mutations², who now receives enzyme replacement therapy.
• Malaysia: Partnering with the University of Malaya Medical Centre and Hospital Kuala Lumpur, the programme diagnosed 52 per cent of 171 families. In one instance, an infant with severe malnutrition was diagnosed with DGAT1 gene mutations³. Immediate dietary changes led to significant improvements within days.
• The Philippines: 49 per cent of 66 families were diagnosed in collaboration with the Institute of Human Genetics, and National Institute of Health at the University of the Philippines Manila. One of the families ended a 20-year search for answers for their child with intellectual disability, enabling them to connect with relevant support groups and empowering them to help others diagnosed with the Menke-Hennekam Syndrome⁴. 
• Vietnam: Together with the Centre of Clinical Genetics and Genomics, Hanoi Medical University Hospital, and Department of Medical Biology and Genetics, Hanoi Medical University, the programme diagnosed 53 per cent of the 59 families enrolled, enabling optimisation of treatment as well as early surveillance for genetically predisposed conditions including cancer and cardiac arrhythmias.

Building a sustainable ecosystem for the future

Beyond diagnosis, Genomics for Kids in ASEAN is driving a self-sustaining ecosystem for genomic medicine, through:

• ASEAN-specific genomic database: Launching the region’s first such database dedicated to understanding rare diseases and tailoring diagnostics and medical practices relevant to the multi-ethnic populations in Singapore and the region.
• Specialised education: Strengthening capability through comprehensive education and training – The Genetic Education for Medical Staff course, Executive Certificate Programme in Clinical Genomics, and Genomic Medicine Symposiums.
• Knowledge transfer: Building local expertise for genomics research and patient care through a network of regional physicians for regular case discussions and workshops.   
• Infrastructure development: Equipping partner countries with capabilities for genetic screening, diagnosis and management, and research.

A KKH-led study⁵ has shown that early use of genomic sequencing in paediatric genetic diseases can save an average of at least US$5,000 per patient by avoiding prolonged diagnostic journeys, reducing the burden on healthcare systems.

“The most meaningful outcome of this programme is the relief it brings to families, as a confirmed diagnosis can end years of uncertainty and repeated consultations. At the same time, its broader significance is systemic. Genomics for Kids in ASEAN is building the clinical capabilities, knowledge networks, and genomic data foundations that ASEAN needs for the future of precision medicine. This is how we create durable impact — not only solving today’s cases, but enabling healthcare systems to diagnose and care for many more patients over time,” said Kee Kirk Chuen, Head of Health & Well-being at Temasek Foundation.

Launched in 2022 with more than S$2.8 million support from Temasek Foundation, the three-year Genomics for Kids in ASEAN programme aims to improve access to genetic services for under-served families whose children are suspected to have rare diseases. These families receive comprehensive genetic testing and support tailored to their diagnoses, as well as genetic counselling to help affected families make informed choices in family planning and care for the diagnosed patients.

The programme has boosted the KKH’s in-house genetic testing and laboratory capacity to sequence, analyse and interpret test results. With enhanced capability, KKH is extending this know-how to partner institutions in ASEAN.

¹ https://www.genome.gov/dna-day/15-ways/rare-genetic-diseases, National Human Genome Research Institute.

² A rare condition where the body lacks a specific enzyme to break down sugar molecules, leading to a buildup that causes progressive bone deformities, short stature and joint issues.

³ DGAT1 gene mutations cause a rare condition where the body lacks a specific protein to process dietary fats, leading to severe chronic diarrhoea and malnutrition.

⁴ A rare condition that affects how the body grows and develops, typically resulting in distinct facial features, short stature, and varying levels of intellectual disability.

⁵ “Reduced resource utilisation with early use of next-generation sequencing in rare genetic diseases in an Asian cohort”, American Journal of Medical Genetics, Nuraini Nazeha et al, 2022.