Genomic testing is a powerful new tool for identifying risk of coronary heart disease, to enable early detection, treatment and prevention. Yet we are not currently harnessing the full potential of genomics, due to a lack of testing access, awareness and implementation. My project addresses a critical unmet need – identifying more high-risk individuals and families affected by early-onset coronary heart disease caused by genetic variants (most of whom do not currently qualify for genetic testing through the public healthcare system). My project is designed to translate emerging new genomic detection strategies, including population DNA screening to identify risk of genetic heart disease (familial hypercholesterolemia) in young adults, and the use of polygenic risk scores to improve risk stratification and intervention use. My project provides a new translational opportunity to improve early detection and prevention of coronary heart disease in Australia using genomics.
Last updated12 March 2024