Profile: Associate Professor Joanne Ngeow: Advancing genomic medicine

By Feng Zengkun, Writer

For LKCMedicine’s Associate Professor Joanne Ngeow, the path to specialising in genomic medicine – the science of using a patient’s genetic information to provide personalised healthcare – began with a love for diagnostic puzzles.

When she was attending medical school at the University of Melbourne in Australia, the case study of British doctor Dr John Snow captured her imagination. In 1854, through keen clinical observation and pattern recognition, he pinpointed a much-frequented street pump as the source of a cholera epidemic in London.

A/Prof Ngeow said, “He demonstrated that such work, coupled with systemic analysis, results in significant impact for population health. That stood out to me as an attractive approach to clinical research.”

She decided to pursue a year of epidemiologic research at Melbourne’s Victorian Infectious Disease Reference Laboratory, and won a scholarship to study the health of newly-arrived refugees and humanitarian entrants from the Horn of Africa to Australia in 2000.

Her research uncovered not only significant health problems among them, including a high prevalence of asymptomatic infections, but many missed opportunities for intervention due to the treating primary care physicians’ lack of familiarity with the issues. 

Her findings formed the basis of the Department of Human Services Australia’s programme for the subsequent medical management of all newly-arrived humanitarian entrants. They also led to clinical guidelines for physicians, and formal vaccination catch-up programmes and vitamin D supplementation strategies for paediatric refugees, among other outcomes.

“It has been gratifying to see my undergraduate thesis work have a long-reaching impact. To me, that is the key strength and attraction of public health research,” said A/Prof Ngeow.

When she completed her medical studies, she returned to Singapore for internal medicine and medical oncology training.

She explained, “I was drawn to oncology for the public health problem that it is, and because of the disease’s complexity. I was also challenged by the far-reaching, devastating effects that cancer has on patients physically and otherwise.”

While her clinical oncology training enabled her to better understand cancer’s development and the patterns of presentation and response in patients through those she treated, it left her with a sense of dissatisfaction.

She shared, “It did not give me an avenue to understand the underlying mechanism of why a patient would present or respond the way he or she did.”

To fill this gap, she chose to go into the sub-speciality of clinical cancer genetics and obtained consecutive fellowships including the National Medical Research Council Research Training Fellowship to train in cancer genomic medicine at the Cleveland Clinic’s Genomic Medicine Institute in Ohio, USA.

“My fellowship is unique in that it combines the ‘bed’ with the ‘bench’,” she said. “During this time, I was exposed to patients with rare cancer syndromes and hereditary cancer, and studied the cancer implications of patients with genetic mutations in the gene PTEN.”

She continued, “These studies are good examples of taking clinical observations into the laboratory. Our results had wide-reaching implications for clinical management strategies aimed at identifying at-risk patients, and sparing not-at-risk patients from unwarranted surveillance. I have been hooked since.”

She noted that genetics has flourished in the past decade, largely due to the complete sequencing of the human genome, and has revolutionised how scientists and clinicians think about disease.

“Moreover, novel technologies and methodologies are increasingly being developed to better measure exposures, allowing us to better study gene-environmental interactions,” she added.

“Despite these advances, we are only just unravelling the impact we can have on public health with the aid of genetic information. It is a wonderful field for any clinician keen on research,” she said. 

Looking back on her own career so far, she said that she has been blessed with good mentors and strives to pay it forward. She added, “I started my clinician-scientist journey relatively late, which makes me very aware of all the challenges clinicians face. This has helped me mentor others, and I am very proud of my trainees and students.”

“I am also very grateful for LKCMedicine’s support, vision and scientific environment. It is wonderful to be surrounded by the brilliant scientific minds at LKCMedicine. Even though it is a young school, it has invested in impactful projects such as the Health for Life in Singapore Study, where I am one of the Principal Investigators.”

“This study will help us understand the determinants of chronic diseases – not only the biological but also the lifestyle and social – all of which are critical for an aging population like Singapore.” 

Besides her research at LKCMedicine, A/Prof Ngeow has led the systematic inclusion of cancer genomics into routine oncology care at the National Cancer Centre Singapore. She established the Cancer Genetics Service (CGS), created new career tracks for genetic counsellors, and organises education symposia for students and residents.

The CGS provides genetic counselling to people with a personal or family history of cancer, or both. It also conducts research to identify and characterise gene variants that increase cancer risks, trains healthcare professionals on hereditary cancers and raises awareness about them.

Underlining the importance of genomics, A/Prof Ngeow concluded, “Understanding genomics gives clinicians the tools to understand why something happens, and how to begin to tackle the disease – how to go about preventing and treating it.”