Genomics for Kids in ASEAN programme to set up registry to further tackle rare diseases in region

SINGAPORE – A genetic registry will be set up under the Genomics for Kids in ASEAN programme to help deepen understanding of rare genetic diseases in South-east Asia.

Announcing this at the annual KK Women’s and Children’s Hospital (KKH) Rare Disease Day, Dr Janil Puthucheary, Senior Minister of State for Education, said: “As Singapore develops our precision medicine capabilities, we will continue to share our experience with our ASEAN neighbours.

“Every genome sequenced and every variant discovered will strengthen knowledge that will benefit children across the region for years to come.”

Dr Janil, who is a trained paediatrician, added: “No single country sees enough cases to interpret every genetic variant or recognise every rare condition.

“By pooling our expertise and resources, we create something more powerful than the sum of our individual efforts. For families, this means that their child’s condition is studied not by one team, but by a network of regional experts committed to finding answers.”

He was speaking via video link at the event held on Feb 27 at KKH.

This ASEAN-specific genomic database is the first dedicated to understanding rare diseases and tailoring diagnostics and medical practices to the multi-ethnic populations in Singapore and the region.

Rare diseases are usually genetic and affect fewer than one in 200,000 individuals worldwide. In South-east Asia, it is estimated that more than 10 million people, including children, live with undiagnosed rare diseases.

Many, including parents of children with rare conditions, said it has not been easy diagnosing them because of low awareness, a lack of scientific knowledge and the complexity of the ailments, resulting in an ordeal that can last several years.

Take the case of undergraduate Raphaella Gautama, 21, who was in limbo for two years before she was diagnosed with fibrodysplasia ossificans progressiva.

Her condition, which causes her muscle and tissue to gradually change into bone, affects approximately one in a million to one in two million people.

Ms Gautama is currently the only person with the condition in Singapore.

She is on Gleevec, used primarily for treating cancers, to minimise the flare-ups and control new flare-ups when they happen.

Separately, Mr Andrew, father of three-year-old Ann, who was diagnosed with Coffin-Siris syndrome, a rare genetic disorder characterised by developmental delays, intellectual disability, distinctive coarse facial features and an underdeveloped fifth finger or toe nails, said: “Rare conditions feel invisible until it touches your family.”

Ann, an Indonesian whose father declined to give their family name, was the first patient to be diagnosed through the Genomics for Kids in ASEAN programme in 2023. She is receiving care from several specialists at KKH.

To ensure the journey to getting properly diagnosed is shortened, the programme extended its DNA sequencing services for research and medical applications to the region in 2023.

Since its launch in 2022, the programme, a joint effort by philanthropic organisation Temasek Foundation and KKH, has reduced the time to diagnosis from a global average of 7.6 years to just weeks.

Associate Professor Tan Ee Shien, who leads the programme, said: “We are creating a sustainable network of hospitals and research communities and establishing a genomic database unique to our ASEAN population.

“By improving access to genetics services, we are enhancing clinical capacity and capability to care for patients and families with rare disorders.”

Prof Tan, who also heads the Department of Genomic Medicine at KKH, added: “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 make-up of our multi-ethnic population.”

The programme has achieved a diagnostic success rate of 52 per cent, higher than the international benchmarks of 25 per cent to 40 per cent, and provided genetic testing to 510 families across Singapore, Malaysia, the Philippines and Vietnam.

In partnership with the University of Malaya Medical Centre and Hospital Kuala Lumpur, the programme diagnosed more than half (52 per cent) of 171 families in Malaysia.

In the Philippines, about half (49 per cent) of 66 families were diagnosed in collaboration with the Institute of Human Genetics as well as the National Institute of Health at the University of the Philippines Manila.

In Vietnam, together with the Centre of Clinical Genetics and Genomics at Hanoi Medical University Hospital and the Department of Medical Biology and Genetics at Hanoi Medical University, the programme diagnosed more than half (53 per cent) of the 59 families enrolled, enabling optimised treatment and early monitoring for genetically predisposed conditions such as cancer and heart diseases.

“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,” said Mr Kee Kirk Chuen, head of health and well-being at Temasek Foundation.

Patients with rare conditions have to help themselves too.

Ms Abigail Chua, 20, a student of visual communications at the Nanyang Academy of Fine Arts, was diagnosed in 2019 with myoclonus epilepsy with ragged-red fibres syndrome, which affects her muscles and causes seizures.

Currently on “a battery of pills daily”, she said procrastinating in getting things done “is no longer a choice because I never know when I would suffer seizures or blackouts or when I needed to be warded at the hospital”.