What is the issue for NSW?
The cause of most congenital heart disease (CHD) is unknown and due to a combination of genetic and environmental factors. Following advances in treatment and care, most babies with CHD survive to adulthood resulting in a rapidly expanding adult CHD population. Current estimates suggest more than 46,500 adults live with CHD in Australia, with half of these residing in NSW. Adults with CHD are at increased risk of passing on their heart defects to their children, so it is crucial to understand the causes of CHD to prevent or to lessen the severity of the disease in subsequent generations.
Further, for young adults with CHD their preferences and needs are unknown regarding family planning, genetic testing and counselling in pregnancy. These preferences need to be established to facilitate appropriate referral practices and mental health support, more effective health care service delivery, and guidelines.
What does the research aim to do and how?
This research program will focus on identifying genetic and environmental risk factors in pregnancy associated with CHD recurrence. To identify the risk factors, the research program will use existing data, existing resources and novel multidisciplinary approaches, including data linkage of clinical (including prenatal and maternal) and health outcomes data from more than 20,000 CHD patients in NSW and genomic sequencing from more than 950 patients. The specific aims are to:
- Identify environmental risk factors contributing to CHD recurrence;
- Identify genetic factors contributing or modifying CHD recurrence;
- Identify patient preferences relating to genetic testing, counselling and family planning.