Genomic Medicine

The Laboratory of Genomic Medicine was established in 2018 and is the translational arm of the broader Inherited Cancer and Rare Disease Translational Research Programme led by Dr Joanne Ngeow, who also leads the NCCS’s Cancer Genetic Service (CGS).

CGS provides genetic risk assessments for patients with familial and/or rare and undiagnosed diseases. Their mission is to serve as the expert base in the principles and practice of genetic and genomic medicine by being a single platform for research, academic clinical practice, and education for the NCCS, so that personalised healthcare, based on rigorously researched, validated genetic information, can be incorporated into all healthcare decisions.

CGS serves as a self- and physician-referral–based clinical centre that provides expert genetic risk assessment for a broad array of diseases, education, genetic counselling, targeted gene testing, medical management recommendations and appropriate multi-specialty referrals. It is unique in that the comprehensive clinical practice of medical genetics and genomic medicine is housed under one roof in proximity to the research on which the evidence-based practice of personalised genetic healthcare is performed. All patients and families seen at CGS are offered research enrolment.

The laboratory focuses on inherited and somatic (body cell) mutations that contribute to cancer susceptibility syndromes as well as rare hereditary disorders, such as metabolic and endocrine disorders. Using state-of-the-art sequencing technologies, we search for causal sequence variants in DNA from inherited cells of at-risk individuals, in human tumour genomes, and in the genomes of model organisms to determine novel susceptibility genes and to better understand gene–gene and gene–environmental interactions. There is a paucity of such data in Asia and in Singapore. Since 2014, the team has published on the role of genetic predisposition in young breast, colon, sarcoma, endometrial, and childhood cancers, and is currently exploring ways to exploit these insights for therapy.

Selected publications

1. Toh MR, Chong ST, Chan SH, Low CE, Ishak ND, Lim JQ, Courtney E, Ngeow J. Functional analysis of clinical BARD1 germline variants. Molecular Case Studies. 2019 Aug 1;5(4):a004093.
2. Chong ST, Tan KM, Kok CY, Guan SP, Lai SH, Lim C, Hu J, Sturgis C, Eng C, Lam PY, Ngeow J. IL13RA2 Is Differentially Regulated in Papillary Thyroid Carcinoma vs Follicular Thyroid Carcinoma. The Journal of Clinical Endocrinology & Metabolism. 2019 Jul 10;104(11):5573-84.
3. Chan SH, Chew W, Ishak ND, Lim WK, Li ST, Tan SH, Teo JX, Shaw T, Chang K, Chen Y, Iyer P. Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours. NPJ genomic medicine. 2018 Nov 15;3(1):30.
4. Ngeow J, Yu W, Yehia L, et al. Exome sequencing reveals germline SMAD9 mutation that reduces PTEN expression and is associated with hamartomatous polyposis and gastrointestinal ganglioneuromas. Gastroenterology. 2015;149:886–889.
5. Ngeow J, Liu C, Zhou K, et al. Detecting germline PTEN mutations among at-risk patients with cancer: An age- and sexspecific cost-effectiveness analysis. J Clin Oncol. 2015;33:2537–2544. [Featured on Hematology/ Oncology Today.]