Genomics for KIDS in ASEAN

Programme Partner: SingHealth Duke-NUS Maternal and Child Research Institute, Temasek Foundation

Region: Southeast Asia

There are more than 350 million individuals with rare diseases globally; half of the afflicted are children and 30% of the affected children will die before the age of 5. Patients with rare diseases often undergo a diagnostic odyssey, with visits to multiple specialists and given 2 to 3 misdiagnoses, hampering timely treatment and consuming healthcare resources.

Advances in genomics have made it possible for many patients with rare diseases to be diagnosed within weeks. This reduces unnecessary investigations and allows for more precise care and therapy. However, in ASEAN, many children with rare diseases remain undiagnosed, especially those from low-income families and less well-resourced countries.

Genomic studies on rare diseases focus largely on white European populations. This lack of diversity harms scientific understanding of the genetic underpinnings of disease in populations such as ASEAN. This 3-year programme, Genomics for KIDS in ASEAN, leverages the expertise of SingHealth Duke-NUS Maternal and Child Research Institute to bring genomic technologies to the underserved populations of ASEAN to achieve the following:

• Increasing genomic sequencing of patients with serious undiagnosed medical conditions, ending their diagnostic odyssey.
• Building capability and capacity of ASEAN countries in genomics including establishing a network of care and providing relevant genomic education.
• Improving understanding of rare genetic diseases in ASEAN by building an ASEAN-specific genomic database.