This project will increase the diagnostic yield of genetic testing in people with inherited heart disease.
The main researcher for this project is Dr Richard Bagnall.
What is the issue for NSW?
Genetic testing is an important step in clinical management of families with inherited heart disease. Finding the precise genetic cause of disease allows testing of family members to identify those who are, and are not, at risk of developing disease. This information can be useful in selecting the most appropriate medications or interventions to prevent adverse clinical outcomes. It also allows people who have not inherited the genetic cause of disease to be released from needless lifelong clinical screening. Unfortunately, current genetic testing approaches only identify a genetic cause of disease in approximately 40% of families overall. There is an urgent need for new, improved, approaches to increase the diagnostic yield of genetic testing in inherited heart disease so that all families can receive optimal clinical care.
What does the research aim to do and how?
This project aims to improve the diagnostic yield of genetic testing in inherited heart disease. This will be achieved by developing new computational approaches to sift through the millions of variants in DNA found in each individual, and to find the one change that causes disease. New high-throughput laboratory-based assays will be developed that distinguish between disease-causing variants and those that have no clinical relevance. New cutting-edge technologies that read genetic information will be evaluated to see whether they improve on current approaches. The ultimate goal is to prevent sudden cardiac death from happening in our communities.