Evidence map›Paper›PMID 42251384›Full record

ArticleImplementation science communications2026

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

Mitchell Sarkies, Madeline Calder, David Sullivan, Shubha Srinivasan, Catherine Spinks, Emile Belramoul, Ronald J Trent, Claire Trumble, Charlotte Hespe, Stephen C H Li and 3 more

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Article in Implementation science communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Mitchell SarkiesFaculty of Medicine and Health, School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia. mitchell.sarkies@sydney.edu.au.
Madeline CalderInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia.
David SullivanDepartment of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Shubha SrinivasanInstitute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Catherine SpinksFaculty of Medicine and Health, School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.
Emile BelramoulFaculty of Medicine and Health, School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.
Ronald J TrentInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia.
Claire TrumbleInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia.
Charlotte HespeSchool of Medicine Sydney, The University of Notre Dame Australia, Sydney, New South Wales, Australia.
Stephen C H LiLipid Clinic, Westmead Hospital, New South Wales, Australia.
Luke EliasHealth Consumer, FH Australia, Sydney, New South Wales, Australia.
Brendan GoodgerCentral and Eastern Sydney Primary Health Network, Sydney, New South Wales, Australia.
Karen BirkenheadFaculty of Medicine and Health, School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial 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.

methodsA 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.

resultsA 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 case increased significantly from 0.24 in the control period to 0.52 in the implementation strategy period (incident rate ratio = 4.62; 95% CI: 0.39, 8.84; p = 0.032). Among relatives tested, there was no difference in the proportion with a confirmed FH gene change per index case (IRR = 2.15; 95% CI: 0.65, 7.01; p = 0.207). There was no difference in the proportion of index cases with at least one cascade test (OR = 1.49; 95% CI: 0.53, 4.19; p = 0.442).

conclusionsImplementation of our model increased FH cascade testing compared to previous standard care. These findings suggest a greater role for cascade testing in primary care settings. This opens new opportunities for integrating genetic screening into routine general practice, particularly for autosomal dominant conditions such as FH.

Indexed as

Care pathwayGenetic screeningGenomic medicineHealthcare innovationHealth system researchImplementation scienceModel of careMultidisciplinaryPrimary careResearch translation

Identifiers

PMID42251384
PMCPMC13491835

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.