May: Clinical Implementation Pilot: Familial Hypercholesterolemia Interventions in Singapore

Recap key insights from May's CRIS Connect Webinar:

For the first CRIS Connect webinar, the speakers underscored how precision medicine is reshaping preventive care in Singapore, highlighting the role of genomics, clinical implementation pilots and economic evaluation in driving sustainable healthcare.

Ms Iraeneus Chia, Manager, PRECISE, outlined the programme's mission to work with the ecosystem in harnessing genomics for preventive health. PRECISE aims to identify individuals and groups at higher genetic risk, uplift these groups with cost-effective treatments and reduce inequities through informed policies. To support this vision, five clinical implementation pilots (CIPs) have been launched, focusing on familial hypercholesterolaemia (FH), breast cancer screening, hereditary cancers, kidney disease and pre-emptive pharmacogenomics.

A major milestone was achieved on 30 June 2025, with the launch of Singapore’s first national FH genetic testing programme. This initiative seeks to detect FH, a common but underdiagnosed genetic condition that increases the risk of premature heart disease, at an early stage, enabling timely interventions. Eligible patients are identified in primary care and referred for genetic testing at the Genetic Assessment Centre.

A/Prof Tavintharan Subramaniam, Senior Consultant, Diabetes Centre, Admiralty Medical Centre, Khoo Teck Puat Hospital (KTPH) and Deputy Director, Clinical Research Unit, KTPH, elaborated on how FH is being integrated into clinical practice through the CIP. While FH patients face a 20-fold higher risk of cardiovascular disease, fewer than 10% display clinical signs, often leading to delayed diagnosis and treatment. The FHCARE team provided a structured pathway, including systematic screening, specialist assessment, genetic testing, and pre-test counselling by trained coordinators. Patients with confirmed genetic results can invite family members for cascade screening, ensuring earlier detection and treatment for at-risk relatives. With the roll-out of the national genetic testing programme, the team plans to expand population-level screening to identify individuals with high LDL cholesterol, paving the way for earlier, definitive diagnosis and comprehensive care.

Bringing an economic lens to the discussion, A/Prof Wee Hwee Lin, Director, Centre for Health Interventions and Policy Evaluation Research (HIPER), Saw Swee Hock School of Public Health, National University of Singapore (NUS), emphasised that healthcare policies must balance unlimited needs with finite resources, “Scarcity is a fundamental concept in economics. Economics is about trade-offs". Cost-effectiveness is assessed through incremental cost-effectiveness ratios (ICER) and quality-adjusted life years (QALYs), which measure the quantity and quality of life gained through interventions. In Singapore, health technology assessment has been strengthened to evaluate high-cost treatments, including precision medicine. While genetic screening and preventive care incur upfront costs, they help avoid the far greater costs of advanced disease management.

Together, the speakers highlighted how precision medicine, clinical innovation and economic evaluation are crucial in advancing preventive health and ensure equitable, sustainable healthcare for Singapore’s population.