Abstract for: Familial Hypercholesterolemia Screening in Singapore

Familial hypercholesterolemia (FH) is a significant yet under diagnosed public health challenge in Singapore. While early detection and treatment can prevent severe cardiovascular complications, scaling up FH screening presents complex logistical and resource allocation challenges. We have developed a two-part system dynamics (SD) modelling framework to assess different implementation strategies and optimize screening and treatment pathways. The development of this model has been highly collaborative, involving input from a broad range of stakeholders across Singapore’s healthcare ecosystem. Over the course of four Oversight Group (OG) meetings held in 2024, the project team engaged with key experts to ensure that the model aligns with real-world clinical workflows and health system constraints. The results indicate that approximately 1,011 FH-positive individuals are identified through testing, while around 475,000 FH-negative individuals are detected during this time. There is a growing backlog of patients awaiting FH testing, primarily due to the existing pool of individuals already diagnosed with HC. 30% of the 20,000 patients screened for HC contribute to this backlog. However, demand for testing continues to outpace availability. Our vision for this modeling work extends beyond immediate policy guidance to establish a dynamic "learning laboratory" that evolves alongside Singapore's precision medicine initiatives. This would require a dedicated group to develop and maintain. By creating a responsive modeling framework that incorporates new data and insights as they emerge, this approach would provide continuous decision support as the population-level genetic testing program matures. AI was used to test the correctness of model construction and fitness to the problem domain.