CHD-GEN: Genetic and environmental factors in congenital heart disease and psychosocial outcomes

Ms Bridget O'Malley, University of Sydney

Postgraduate Scholarship

Years funded: 2025 - 2027

Genetic and environmental factors in CHD recurrence

The cause of most congenital heart disease is unknown and due to a combination of genetic and environmental factors. With most affected babies (over 90%) now surviving to adulthood, it is crucial to understand the causes of congenital heart disease to prevent them from passing on their heart defects to their children.

Investigating risk factors for CHD recurrence

This thesis will examine environmental risk factors (fetal-placental-maternal) and genetic contributors to CHD recurrence using epidemiology approaches, including datalinkage of clinical (including prenatal and maternal) and health outcomes, and existing genomic data to investigate genetic and environmental contributors to disease recurrence. Using linked data, environmental risk factors in key clinical and population groups will be compared to investigate environmental correlations with CHD recurrence. Genetic and variant burden associations will be identified through genomic analyses. Burden analyses will analyse contributory gene sets and pathways, and polygenic risk scores will be used to compare specified groups (e.g those with a family history and controls).

Psychosocial needs and patient preferences in CHD care

This will generate important novel data on prenatal, maternal and genetic factors associated with congenital heart disease recurrence in pregnancy. Further, psychosocial analysis in adults and adolescents with CHD will identify currently unknown patient preferences and needs regarding family planning, genetic testing, counselling in pregnancy, education and service availability surrounding these topics. Data gathered will inform clinical service delivery and the implementation of a specialised genetics education program. Further, this work will identify patient preferences and needs to facilitate the development of appropriate referral practices for genetic testing, counselling and support in the rapidly expanding adult congenital heart disease population.