PETALING JAYA: The sight of helpless parents and children with rare genetic diseases having nowhere to turn to more than three decades ago tugged at the heartstrings of the then-young doctor Prof Dr Thong Meow Keong.
Not one to let others suffer, he took it upon himself to become the first board-certified clinical geneticist in Malaysia back in 1994.
Now serving as a consultant clinical geneticist at the Universiti Malaya Medical Centre (UMMC), Prof Thong has used his platform to significantly advance rare disease (RD) care in Malaysia, where such illnesses have afflicted about 5% of the population.
“Back when I first began training as a medical student in 1983, we didn’t have much training in genetics or children with rare conditions.
“When I first graduated and began work at a few rural hospitals, I came across many disabled children with unknown syndromes who did not get the support they needed.
Hard at work: Prof Thong says he is working closely with WHO to develop a global registry of RD patients. — SAMUEL ONG/The Star
“One of the things I always believed was not to leave anyone behind, which is why when I got the chance, I immediately chose paediatrics for my specialist training back in 1990,” he said in an interview.
He had also undergone three years of training at the Women’s and Children’s Hospital in Adelaide, Australia, and another year at the Royal Children’s Hospital of Melbourne.
“I got many offers to stay on after my training was completed in 1994, but ultimately, I decided to return as I felt many of our children and patients in the country needed help,” he added.
Shortly after, in 1995, Prof Thong founded Malaysia’s first genetic clinic, introduced enzyme replacement therapy and gene therapy for spinal muscular atrophy, and established the Malaysian Rare Disorders Society, and expanded newborn screening.
He also played a key role in making clinical genetics a recognised sub-speciality in Malaysia, for which he was awarded the American Society of Human Genetics Advocacy Award (2022) and the Fulbright Scholar Award (2004).
Prof Thong said before this, there were no genetic services, counselling or laboratory tests for genetic conditions, with many young patients going on to suffer, leaving both their parents and them clueless about their condition.
His dedication to not just highlighting the lack of genetic care in Malaysia but also resolving it spurred the Health Ministry to follow suit – it set up its own genetic clinic in 2000.
“The biggest challenge back then was the lack of public awareness about children with genetic and rare diseases.
“This low level of awareness led to many of these children being stigmatised and discriminated against, causing many of them not to get the help they needed,” said Prof Thong.
To help resolve the issue, he then helped set up the Malaysian Rare Disorders Society (MRDS) with fellow social health advocate Datuk Hatijah Ayob in 2004.
“We were able to train a core group of parents to be advocates for their children, speak up for their rights and fight against discrimination, which has since resulted in many other similar groups forming.
“We want to empower parents to come out and speak up about their issues as well as get funding for their children for the treatment they deserve,” he added.
Through MRDS, Prof Thong helped raise over RM50mil for rare diseases treatment for the benefit of poor and disadvantaged families and patients.
He also helped set up one of the first public hospitals with available newborn screening services in the country at UMMC in 2015 to test for rare diseases and conditions, charging only RM80.
His combined efforts saw 20,000 unique patients find the help they needed as part of UMMC’s genetic clinic database, while over 12,000 newborns were screened for rare genetic diseases at public hospitals.
“Through a sample heel prick of the baby’s feet, we are able to screen for many genetic conditions or diseases within the first week of the newborn’s birth, before any complications emerge, and treat them accordingly.
“It is currently a paid service, but we hope the government may one day make it a mandatory test for all newborns in Malaysia at all public hospitals nationwide.
“Not only would this help save more children, but it would also reduce the cost of treatments as it becomes a more widespread practice,” he added.
Internationally, Prof Thong also serves as a World Health Organisation (WHO) adviser, where he helped develop the “WHO Principles for Human Genome Data Sharing (2024- 2025)” that now serves as a guiding document for governments worldwide.
He is also an elected member of the Global Genomic Medicine Consortium (G2MC) Steering Committee where he develops tools to enhance genomic medicine, the accuracy of family history taking, and identification of individuals at risk of rare diseases.
Prof Thong now seeks to become one of the pioneers for genomics, with his work resulting in the first gene therapy done at UMMC in 2020.
Despite having spent over 34 years in the medical profession, his work continues through his efforts of spreading awareness of RD patients as an Honorary Professor at UMMC and Dean at Universiti Tunku Abdul Rahman (UTAR).
“I am also working very closely with WHO to develop a global registry of RD patients, making it easier for us to better understand, research and develop better treatment for such conditions,” he said.
For his noble efforts, Prof Thong was named as one of the 10 winners of the Star Golden Hearts Award (SGHA) 2024.
SGHA is an annual award by The Star that honours everyday, unsung Malaysian heroes.
For more details, visit sgha.com.my.
