Implementing a primary-tertiary shared care model for enhancing cascade testing for familial hypercholesterolaemia: an effectiveness–implementation hybrid type III pre–post study

作者：Mitchell Sarkies, Madeline Calder, David Sullivan, Shubha Srinivasan, Catherine Spinks, Emile Belramoul, Ronald J. Trent, Claire Trumble, C. Hespe, S Li, Luke Elias, Brendan Goodger, Karen Birkenhead · 发表于：Implementation Science Communications · 年份：2026 · DOI：10.1186/s43058-026-00988-x · 研究领域：Lipoproteins and Cardiovascular Health、BRCA gene mutations in cancer、Genetic Associations and Epidemiology

BACKGROUND: Familial hypercholesterolaemia (FH) is a common but underdiagnosed genetic condition that leads to high low-density lipoprotein cholesterol and premature cardiovascular disease. Cascade genetic testing remains underutilised as a screening approach. Implementation strategies can increase the diffusion of innovations such as genetic medicine into non-genetic specialty settings more rapidly through dissemination networks. This study aimed to evaluate the success of a multifaceted implementation strategy to increase cascade testing for relatives of a person diagnosed with FH using a primary-tertiary shared care model. METHODS: A multisite effectiveness-implementation hybrid type III pre-post study was conducted between 2022 and 2024 to compare the implementation of a new shared care model for FH cascade testing in NSW, Australia. During the control period, cascade testing of relatives was offered to FH index cases by a genetic counsellor at the lipid clinic. In the implementation strategy period, FH index cases were offered a cascade testing expression of interest form to provide to their relatives. Relatives were contacted by a genetic counsellor and provided with a pre- and post-cascade testing package, which was also provided to their general practitioner. RESULTS: A total of n = 25 index and n = 6 cascade cases were included in the control period and n = 81 index and n = 56 cascade cases in the implementation period. The number of cascade genetic tests per index c...