Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods...

Area of Science:

• Genomic Medicine
• Primary Health Care
• Health Technology Implementation

Background:

• General practitioners (GPs) and specialists often lack experience with genomic testing, creating challenges in test selection and interpretation.
• Current genomic tests, both subsidized and consumer-paid, cover diverse genes and conditions, complicating appropriate use.
• A structured approach is needed to integrate genomic testing into Australian primary care effectively and ethically.

Purpose of the Study:

• To establish a nationally consistent and ethically sound framework for genomic testing in Australian primary care.
• To develop, test, and evaluate tools supporting GPs and consumers in utilizing genomic information.
• To assess the real-world utilization and equity of access to genetic testing within the primary care setting.

Main Methods:

• Develop and evaluate resources for GPs, including point-of-care tools and ethical guidance.
• Create and assess consumer-facing resources and implementation strategies.
• Analyze linked Medicare and population data to evaluate genomic testing utilization and equity.

Main Results:

• Focus on reproductive genetic carrier screening and familial hypercholesterolaemia testing to build a robust clinical pathway.
• Development of practical support tools for clinicians and consumers navigating complex genomic applications.
• Evaluation of real-world data to understand uptake and accessibility of genetic testing in primary care.

Conclusions:

• Implementing structured support is crucial for integrating genomic testing into primary care.
• This project will enhance GP capacity to manage genomic tests, preparing them for future advancements.
• Findings will inform national strategies for genomic medicine in primary care settings.