Familial hypercholesterolaemia (FH) is the most common genetic cause of early coronary heart disease, and affects 1 in 250 Australians. Genomic testing for FH can save lives, by identifying risk early and enabling access to proven and safe interventions. However, >90% of at-risk Australians are unaware of their risk, representing a missed opportunity for heart disease prevention.
To improve access to genomic testing in Australia, ethical, legal and social (ELS) issues must be addressed, including privacy and the potential for genetic discrimination. ELS issues affect willingness to participate, and must be addressed to safeguard public trust in genomics, but more research is required to understand these barriers.
Decliners of genomic testing are a key group to understand, but are traditionally hard-to-reach. By leveraging the DNA Screen pilot study of population DNA testing (>5000 decliners and delayers) I will use mixed methods research (content analysis, surveys and qualitative interviews) to identify barriers faced by these individuals.
Last updated14 March 2024