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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Published on: September 15, 2018

Implementing a primary-tertiary shared care model for enhancing cascade testing for familial hypercholesterolaemia:

Mitchell Sarkies1,2, Madeline Calder3, David Sullivan4,5

  • 1Faculty of Medicine and Health, School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia. mitchell.sarkies@sydney.edu.au.

Implementation Science Communications
|June 6, 2026
PubMed

Insights

A new shared care model significantly increased cascade genetic testing for Familial hypercholesterolaemia (FH) relatives. This approach enhances early detection of FH, a genetic condition causing high cholesterol and heart disease.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Public Health

Background:

  • Familial hypercholesterolaemia (FH) is an underdiagnosed genetic disorder leading to elevated LDL cholesterol and premature cardiovascular disease.
  • Cascade genetic testing is underutilized for identifying affected relatives.
  • Implementation strategies are crucial for integrating genetic medicine into non-specialty settings.

Purpose of the Study:

  • To evaluate a multifaceted implementation strategy aimed at increasing cascade genetic testing for relatives of individuals with FH.
  • To assess the effectiveness of a primary-tertiary shared care model in promoting FH cascade testing.

Main Methods:

  • A multisite effectiveness-implementation hybrid type III pre-post study conducted between 2022 and 2024.
  • Comparison of a control period (genetic counsellor-led testing) with an implementation period (index cases distributing EOI forms to relatives).
  • Relatives were contacted by genetic counsellors and received pre- and post-testing packages, shared with their GPs.

Main Results:

  • The number of cascade genetic tests per index case significantly increased from 0.24 to 0.52 (IRR=4.62, p=0.032) in the implementation period.
  • No significant difference was observed in the proportion of relatives with a confirmed FH gene change per index case (IRR=2.15, p=0.207).
  • No significant difference was found in the proportion of index cases with at least one cascade test (OR=1.49, p=0.442).

Conclusions:

  • The implemented shared care model successfully increased FH cascade testing compared to standard care.
  • Findings support a greater role for cascade testing within primary care settings.
  • This model offers opportunities for integrating genetic screening into routine general practice for autosomal dominant conditions like FH.
Abstract

Keywords:
Care pathwayGenetic screeningGenomic medicineHealth system researchHealthcare innovationImplementation scienceModel of careMultidisciplinaryPrimary careResearch translation

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