Advancing Human Security and Community Resilience

Focus Area: Resilient Healthcare
Genomics for KIDS in ASEAN

15 November 2021

Improving Maternal and Child Health

Families form the best start to a healthier future. Launched in 2021, the Singhealth Duke-NUS Maternal and Child Health Research Institute (MCHRI) seeks to address prevailing maternal and child health issues such as increasing obesity, low fertility rates, mental health problems, and early childhood development through digital strategies and innovations for healthier populations. For positive gains on maternal and child health, the institute adopts a life course approach that looks at interventions from preconception to postpartum care and throughout early childhood and adolescence, using scalable strategies and partnerships to enlarge its reach.

A Diagnostic Odyssey for ASEAN Patients with Rare Diseases

In ASEAN, one in 20 babies born every year and more than ten million individuals suffer from rare diseases. Genetic disorders remain a leading cause of infant and child mortality, and it is estimated that patients with rare diseases see an average of eight physicians, receive two to three wrong diagnoses and face a diagnostic odyssey of seven and a half years before they receive a diagnosis. The challenges throughout the diagnostic cycle in ASEAN are further compounded by a lack of access to genomic services, including a dearth of genomic testing capabilities, prohibitive cost of testing, and scarce numbers of genetic counsellors to advise patients and their families on their health conditions. Current genetic studies are also largely Western-centric with other genetic diseases found in ASEAN populations neglected.

Advancing Genomics Technologies in ASEAN

Harnessing advances in genomic technologies through this 3-year programme, MCHRI aims to provide genetic testing for 740 underserved families in ASEAN, impacting over 2000 individuals, and ending their diagnostic odyssey with appropriate treatment and care. Starting with one ASEAN country and expanding to two more countries subsequently, the programme intends to facilitate the building up of genomics infrastructure and improve genomic literacy through education and training for healthcare professionals. Lastly, an ASEAN-specific genomics database shall be established to enable efficient use of healthcare resources and precision care to tackle genetic diseases in ASEAN and support discovery of new genes and therapies.