Cardiovascular diseases affecting children, adolescents and young adults are often genetic. Genetic testing is a key part of management, however, gaps in knowledge limit its use. At 10 years post-PhD, I am an international leader in cardiac genetic testing and counselling. I am a cardiac genetic counsellor with >18 years’ experience which directly informs my research.
My overall research objective is to find ways to use genomics and genetic counselling to improve care, clarify diagnosis and refine risk information in an equitable way for families with inherited cardiovascular diseases. Finally, I will implement these findings into healthcare, ultimately improving patient care. Specifically, the aims of my work are to (1) Use genomics to diagnose rare cardiac diseases, (2) Investigate genotype-guided clinical management and risk prediction, (3) Guide implementation of genomics into cardiology, and (4) Support patients who live with inherited cardiac diseases and their families.
Last updated17 January 2023