This project will establish a nationally consistent and ethically defensible approach to embed genomic testing in Australian primary care. Many non-genetic health professionals (eg, general practitioners (GPs) and other specialists) have limited experience with such testing. Current tests—both subsidised and consumer-paid—target a range of genes and conditions, making appropriate selection challenging. A structured implementation approach is therefore crucial. We will develop, test, refine and evaluate internationally relevant tools to support GPs and consumers in using genomics effectively.

Aims of the project are to (1) develop, implement and evaluate key supports for GPs offering tests through three interventions: primary health point-of-care resources, a practical guide to dealing with ethical issues affecting clinicians and established recommendations for a national approach for genetic counsellors to support GPs providing genetic testing; (2) develop and evaluate consumer resources and plan the implementation strategies; (3) evaluate real-world utilisation and equity of access to genetic testing in primary care using linked Medicare and population data.

This project will focus on two genomic applications recently made available in Australia on the universal insurance scheme (Medicare): a reproductive genetic carrier screen (an example of the role of genetics in reproductive testing) and genetic testing for familial hypercholesterolaemia (an example of a condition-specific test). Both tests can be complex for GPs to understand and explain to consumers and have potential implications beyond the purpose of the test (eg, personal health implications for carriers and results are also relevant to genetic relatives). Developing a robust clinical pathway and process for these tests will prepare GPs for future more complex applications of clinical genomics. The study will take place from January 2024 to December 2026.

Ethical approval for this work has been received from the Macquarie University Human Research Ethics Committee (Ref: 520241849560183) and the Royal Children’s Hospital Research Ethics and Governance (HREC/112451). Findings will be disseminated via publications, conferences and engagement with primary care networks and policymakers.