Clinical Genetic Testing

Comprehensive clinical genetic testing covering cancer predisposition, cardiovascular genetic risk, hereditary disease screening, and pharmacogenomics — supported by accredited genetic counselling at Mount Elizabeth Novena Hospital.

The Mount Elizabeth Novena Centre for Genomic Health offers a full spectrum of clinical genetic testing services designed to identify hereditary disease risk, guide preventive management, and inform treatment decisions. Unlike direct-to-consumer genetic tests, all testing at the centre is clinically ordered and interpreted by specialists, with results fed directly into an actionable care pathway. Cancer predisposition testing is the centre's flagship service. Multi-gene hereditary cancer panels screen for high-penetrance variants associated with significantly elevated lifetime cancer risk — including BRCA1 and BRCA2 (breast, ovarian, and prostate cancer), Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2) linked to colorectal, endometrial, and other cancers, CDH1 (hereditary diffuse gastric cancer), and TP53 (Li-Fraumeni syndrome), among others. Patients may be referred for testing based on personal or family cancer history, or may seek testing proactively. Cardiovascular genetic risk assessment identifies inherited conditions that increase the risk of sudden cardiac death, premature heart disease, or treatment-resistant high cholesterol. Key panels cover familial hypercholesterolaemia (FH), inherited cardiomyopathies (hypertrophic, dilated, arrhythmogenic), and channelopathies (Long QT syndrome, Brugada syndrome). Identifying a causative variant enables cascade testing of at-risk family members and early preventive intervention. Pharmacogenomic (PGx) testing examines variants in drug-metabolising enzymes — including CYP2D6, CYP2C19, and CYP2C9 — to predict how a patient will respond to commonly prescribed medications such as antidepressants, antiplatelet agents, anticoagulants, and pain medications. This reduces trial-and-error prescribing and adverse drug events. All tests are supported by pre-test genetic counselling to ensure informed consent and contextualise risk, and post-result counselling to translate findings into a personalised management plan. The centre works in close collaboration with oncology, cardiology, and other specialties within the Parkway network to ensure continuity of care following genetic diagnosis.