Poster ID
P-37
Poster Title
Building the Model of Care: Five Workstreams for National FH Genetic Testing Implementation in Singapore
Authors
Chiew JM, Yin JN, Yip RW , Lim JY, WM Cham, Chen YT, Wang AS, Chen HL, Chia PS, Ng SS, Klumsathian S, Kam PR, Tang YQ, Koh AL, Ting TW, Yeo TW, CJ Ng*, E.S Tan
all from KKH Department of Genomic Medicine , only *CJ Ng from SingHealth Centre for Population Health Research and Implementation (CPHRI)
all from KKH Department of Genomic Medicine , only *CJ Ng from SingHealth Centre for Population Health Research and Implementation (CPHRI)
Abstract
Background:Familial hypercholesterolemia (FH) increases the risks of premature coronary artery disease and the prevalence of FH in Singapore is 1 in 140. In 2025, Ministry of Health (MOH) launched the national FH genetic testing programme, starting with SingHealth Genomic Assessment Centre (GAC) on 30 June 2025, followed by two other national GACs.
Objective: This poster describes the FH genetic testing programme in SingHealth GAC and its implementation.
Methods:A Precision Medicine Work Group was convened by MOH in 2024 to deliberate the model of care. 5 domain frameworks were deemed key for the implementation of a precision medicine programme. These encompassed (i) Regulatory (ii) Financing (iii) Data and IT Infrastructure (iv) Manpower (v) Ethical & Legal workstreams. Key hurdles included the (i) Regulation of a Genetic Counsellor (GC) and GC Associate led model of care with genetic testing privileges (ii) Funding and subsidies for Probands and related Cascade testing (iii) Development of a data governance and IT system architecture for clinical and laboratory workflows,(iv) Development of a training roadmap for GCs and (v) Moratorium on Genetic information and employing a consent based approach for cascade contact.
Results: Individuals with LDL-C levels of ≥ 5.5mmol/L were referred by their physicians to the GAC for FH genetic testing. MOH subsidies were provided for eligible patients for up to 70% of costs of testing. Mandatory pre-test counselling was provided prior to genetic testing. Testing was performed in batches for LDL-R, ApoB and PCSK9 pathogenic variants. Test results were uploaded to the patient’s National Electronic Health Records (NEHR) for doctors to view directly. Patient access to results was provided via the HealthHub app. Post-test counselling services were offered to all individuals. A closed loop system was employed to contact via email referring doctors. FH +ve individuals were offered a digital link to refer first degree relatives to the GAC for targeted cascade testing. Patients were provided with an option for in-person or video-consult modalities for counselling.
Significance: An LDL cut-off of ≥ 5.5mmol/L resulted in a FH case-detection rate of 20.6% among tested individuals. A whole-of-system approach with multiple workstreams and stakeholders was employed to realize the implementation of genomic data at a population level. Further study will be conducted to determine the effectiveness of the programme in the local context
Objective: This poster describes the FH genetic testing programme in SingHealth GAC and its implementation.
Methods:A Precision Medicine Work Group was convened by MOH in 2024 to deliberate the model of care. 5 domain frameworks were deemed key for the implementation of a precision medicine programme. These encompassed (i) Regulatory (ii) Financing (iii) Data and IT Infrastructure (iv) Manpower (v) Ethical & Legal workstreams. Key hurdles included the (i) Regulation of a Genetic Counsellor (GC) and GC Associate led model of care with genetic testing privileges (ii) Funding and subsidies for Probands and related Cascade testing (iii) Development of a data governance and IT system architecture for clinical and laboratory workflows,(iv) Development of a training roadmap for GCs and (v) Moratorium on Genetic information and employing a consent based approach for cascade contact.
Results: Individuals with LDL-C levels of ≥ 5.5mmol/L were referred by their physicians to the GAC for FH genetic testing. MOH subsidies were provided for eligible patients for up to 70% of costs of testing. Mandatory pre-test counselling was provided prior to genetic testing. Testing was performed in batches for LDL-R, ApoB and PCSK9 pathogenic variants. Test results were uploaded to the patient’s National Electronic Health Records (NEHR) for doctors to view directly. Patient access to results was provided via the HealthHub app. Post-test counselling services were offered to all individuals. A closed loop system was employed to contact via email referring doctors. FH +ve individuals were offered a digital link to refer first degree relatives to the GAC for targeted cascade testing. Patients were provided with an option for in-person or video-consult modalities for counselling.
Significance: An LDL cut-off of ≥ 5.5mmol/L resulted in a FH case-detection rate of 20.6% among tested individuals. A whole-of-system approach with multiple workstreams and stakeholders was employed to realize the implementation of genomic data at a population level. Further study will be conducted to determine the effectiveness of the programme in the local context
Digital Poster