Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder.

Introduction: Advances in clinical genomics have raised the importance of integrating genomic medicine across healthcare systems, including primary care. Primary care presents an ideal environment to offer equitable and efficient access to genetic services. Familial hypercholesterolaemia (FH) is a preventable and treatable cause of premature heart disease and represents a health condition that can be successfully diagnosed and managed in primary care. This study describes a process for tailoring a primary-tertiary shared care model for FH to optimise health professional and patient engagement.

Methods: Data were collected through semistructured interviews (n=10) with stakeholders in New South Wales, Australia. Interviews gathered feedback on how to tailor a shared care model for FH between tertiary and primary care services. Reflexive thematic analysis was used to analyse interview transcripts.

Results: Analysis generated three main themes: (1) current process for genetic testing and management, (2) challenges with genetic testing for FH in primary care and (3) components needed to enable a tertiary-initiated shared care model. Participants considered the model of care acceptable and could be successfully implemented, provided key supports were in place to assist general practitioners. Based on these results, a process model for integrating genetic testing for other conditions into primary care settings was developed, using FH as an exemplar.

Conclusion: The process model for tailoring of a primary-tertiary model of care for FH can be applied across a range of primary care services and treatable genetic conditions.