Available online 20 March 2025

Developed a national strategy for improving familial hypercholesterolemia (FH) detection in Australia.

Identified state- and territory-specific models for FH detection.

Recommended standardized lab reports and routine screening in various settings.

Proposed universal screening and centralized family cascade genetic testing.

Suggested policy changes including newborn screening and Medicare expansion.

Familial hypercholesterolemia (FH) is a common and treatable inherited condition of cholesterol metabolism that increases cardiovascular health risk. Less than 10% of people with FH have been detected and few receive recommended treatment.

We report on the development of a national implementation strategy for enhancing the detection of FH in Australia.

A modified intervention mapping study was conducted, through workshops to identify barriers and facilitators of FH detection, models for detection and their objectives. Practical implementation strategies were selected using a constructivist analysis and summaries of the strategies were disseminated for feedback. A case study showcase was used to monitor strategy implementation.

Potential models for FH detection were identified, including (1) use of pathology lab reports and recall; (2) screening in general practice, pharmacy, and Aboriginal Community Controlled Health Organizations; (3) screening in cardiovascular inpatients, outpatients, and rehabilitation; (4) universal screening; and (5) centralized coordination of primary-tertiary shared care. Implementation strategies were selected for each model to support their operationalization into routine care. A list of general implementation strategies was also produced that could support multiple models for FH detection.

We identified multiple FH detection models and strategies that would support implementation across Australia. Centralized coordination of a primary-tertiary shared care model was described as a promising approach for integrating index case detection with family cascade testing. We provide a set of implementation recommendations for policy and practice to enhance the detection of FH in Australia.

Implementation science

Research translation

Evidence-based medicine

Atherosclerosis

Genetics

Lipids

Health policy

Models of care

Cardiovascular

Diagnosis

© 2025 National Lipid Association. Published by Elsevier Inc.