Project summary
Working towards a genetic diagnosis for the majority and identifying the benefits.
What is the issue for NSW?
Congenital heart disease (CHD) is the most common human congenital defect, occurring in just under 1% of live-births. CHD is the biggest single cause of child mortality and hospitalisation, excluding communicable diseases. Despite this, only a minority of CHD cases are genetically diagnosed, partly because about 90% of families are not offered the opportunity of having a genetic diagnostic test through the Australian healthcare system. Thus, families are denied the real and the potential benefits enabled by such a genetic diagnosis. Moreover, they are unaware of the impact that CHD will have on their child, and on their lives, as the broad impact has not been studied.
What does the research aim to do and how?
Precision medicine in congenital heart disease care
A genetic diagnosis brings immediate benefits to families as they receive information concerning the chance of CHD occurring in subsequent pregnancies. In Australia, with the growing adult CHD population (64,000 living with CHD, half now adults) such family-specific information to manage reproduction is becoming increasingly relevant. Moreover, a genetic diagnosis can in some cases inform a child’s clinical care or predict complications and risk factors for surgery or treatment.
The purpose of this research is to improve the lives of patients and families with congenital heart disease. We will tackle this by: 1) providing families with a genetic diagnosis, 2) improving the rate of genetic diagnosis, and 3) studying the health and education outcomes of CHD patients.
The project makes use of cutting-edge technologies. For example, whole-genome sequencing will determine the sequence of each of 6 billion base pairs of DNA in each patient and their parents so that we can find the genetic mutation that caused their CHD. Likewise, CRISPR technology will improve the rate of genetic diagnosis by helping us rapidly test gene function (in a mouse model) not previously known to cause CHD.
Once we find mutations that cause CHD in each family, this genetic diagnosis will be given to the families’ clinician so that they can be counselled concerning the ramifications of the diagnosis. We will also study aspects of the journey and outcomes associated with the life of a child with CHD in the hope of identifying key points where various activities might improve their lives long-term. In these ways, this research aims to benefit the health of NSW society by improving the quality of life of people with CHD and their families.