Preliminary results from the implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study

Introduction: Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism and a preventable cause of premature cardiovascular disease. Current detection rates for this highly treatable condition are low. Early detection and management can significantly reduce cardiac morbidity and mortality. This study aims to implement a primary-tertiary shared care model to improve detection rates for FH. The primary objective is to evaluate the implementation of a shared care model and support package for FH genetic testing.

Methods and analysis: We used a mixed-methods pre-post implementation study to evaluate increased detection rates for FH in tertiary and primary care settings. The primary-tertiary shared care model was implemented at NSW Health Pathology and Sydney Local Health District in NSW, Australia, over 12-months. Implementation of the shared care model was evaluated using a modified implementation outcomes taxonomy, focussed on the acceptability, evidence of delivery, appropriateness, feasibility, fidelity, implementation cost, and timely initiation of the intervention. Quantitative pre-post and qualitative semi-structured interview data will be collected.

Results: Since commencement in August 2023, 45 patients have experienced the shared care model. Twenty-nine patients have been genetically diagnosed with FH. Sixteen relatives of these genetically confirmed patients have expressed interest in genetic testing for FH. Three of the 16 relatives have undergone FH genetic testing through their general practitioner.

Conclusions: Preliminary findings suggests the shared care model can be successfully implemented into routine practice across primary and tertiary care and lead to increase detection of FH.