SINGAPORE – Diagnosed with insulin-dependent diabetes at just three months old, Ms Ng Zhuang Shu needed daily insulin injections from infancy and spent most of her childhood being rushed to hospital for hypoglycemia, or dangerously low blood sugar.
When she was planning a family as an adult, genetic testing revealed that she had a mutation in the INS gene, which causes diabetes. This mutation has a 50 percent chance of being passed on to her children.
Not wanting her child to suffer the way she did, Ms Ng, 32, a senior product development manager, and her husband, Mr Luis Teo, 33, a social worker, underwent invitro fertilization (IVF) genetic testing before implantation.
She was implanted with an embryo without the mutation, and later prenatal genetic testing confirmed – with 99.9% accuracy – that her baby would not inherit her condition.
In another case, immunologic and genetic testing revealed a new immunodeficiency syndrome affecting a woman in her 30s, after she was admitted to the intensive care unit for a bacterial infection and did not respond to standard treatments for more than five weeks.
This discovery allowed doctors to provide treatment that targeted the immune system, and the woman was able to get life support within days.
These are just some examples of how genetics – a branch of molecular biology that focuses on the mapping and sequencing of genes – is being used across the National University Health System (NUHS), the public health care team said.
Associate Professor Chin Hui-Lin (left), a geneticist with NUH, and patient Ng Zhuang Shu (centre), her husband Luis Teo and their five-month-old daughter Ellie Teo at the biennial Science and Innovation Conference at the Shangri-La hotel on April 2.
ST PHOTO: KEVIN LIM
On April 2, NUHS launched a new center focused on genomics, as part of efforts to strengthen early diagnosis and allow for more tailored treatments and safer, more accurate prescriptions.
NUHS said that the National University Center for Genomic Medicine (NUGEM) will expand the analysis of genomics beyond the rare cases of children, gathering the knowledge of the team across different specialties, such as oncology and cardiology.
Located within the National University Hospital (NUH), NUGEM will be led by a multi-disciplinary team with experts from various NUHS institutions – including the National University Cancer Institute and the National University Heart Centre, as well as researchers from the National University of Singapore’s Yong Loo Lin School of Medicine.
Supported by NUS researchers, NUGEM will develop new tests for patients with unknown or unclear genetic results.
Although genomics testing is already supporting care in various areas across NUHS, the use of technology is still siloed, said NUGEM director Ng Kar Hui.
The new center aims to streamline its use and bring it closer to patients, said Professor Motsoalle Ng, noting that NUGEM is supported by a combination of institutional funding, partnerships and national research funding, where needed.
“These investments are in line with long-term goals to make the right medicine a part of our care, to improve the quality of care and outcomes,” he said.
Prof Ng noted that among the new facilities of the center is a genomics laboratory, which will enable many genetic tests to be done in-house, allowing greater collaboration in dealing with complex cases.
NUGEM will also enhance NUHS’s focus on pharmacogenomics, where a patient’s genome is used to guide drug selection and dosing, enabling doctors to make safer and more effective prescriptions.
The agency will expand pre-emptive pharmacogenomics testing – where genetic testing is used to determine whether certain medications are appropriate for patients.
“More than 2,000 patients have undergone pharmacogenomics testing at NUHS, with plans to reduce the use of prevention, at the population level,” said NUHS.
NUGEM was launched at the NUHS Scientific and Innovation Conference, held at the Shangri-La Singapore on Orange Grove Road.
Associate Professor Ng Kar Hui, director of NUGEM, at the launch of the National University Center for Genomic Medicine by NUHS.
ST PHOTO: KEVIN LIM
The chairman of the National Research Foundation Heng Swee Keat, who was present at the event, noted that the new center is in line with the goal of the $37 billion project Research, Innovation and Enterprise 2030, to enable healthy aging while controlling health care costs.
“The introduction of NUGEM coincides with us The greatest challenge to fostering a long and prosperous life, as genetic insight increases to understand and address age-related health conditions,” he said.
In his keynote speech, the World Health Organization (WHO) deputy director-general for health promotion and disease prevention and control Jeremy Farrar said the withdrawal of the United States from the WHO has caused an unusually difficult time for the organization.
However, he said, science is still the cause of sustainable economic growth, with Singapore’s investment in science being important to the country’s success.
NUGEM can play an important role in developing global genomic knowledge, which is still largely dominated by data from Europe and North America.
“For Singapore to take a leadership role and share that genomic data will be very important,” he said.
For Ms Ng, whose daughter Ellie was born healthy in November, undergoing genetic testing and IVF was a minor complication that gave her peace of mind about her child’s health.
“You just have to trust the process,” he said.
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