Advanced Genetic Diagnostics

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Project title: Genetic tests to identify people at high risk of heart disease 

We have made a breakthrough in the field of analysing genetic data, and developed a world- leading method that defines "Genetic Risk Signatures" that predict a person's risk of disease outcomes, based only on their genetic variants. 

Our test for prediction of risk of heart attack outperforms the Framingham Risk Score, and even identified people who had heart attacks despite being at low risk by coronary CT angiography. We will validate our test for heart attack risk (developed with data from a European cohort) in the Australian population, and also use our method to develop tests that predict a person's risk of most of the conditions requested in this Opportunity: coronary atherosclerosis; heart failure; risk of sudden death from acute myocardial infarction (MI); and arrhythmias. Our methods are unique in the world and our tests outperform other published genetic tests in every measure; most tests have a Relative Risk less than 2; our test for MI has a RR of 18.

This project combines our expertise with leading cardiologists at the Baker Institute and Harry Perkins Institute. We will obtain and genotype patient DNA samples from the Baker Institute BioBank and from the Cardiology Clinic at Fiona Stanley Hospital, WA. We will analyse the data to derive new tests that identify people at high risk of each of the above conditions, and in hypertensive and normotensive subjects separately.

At the end of the project, we will have tests for risk of several heart disease conditions, in hypertensive and normotensive individuals, validated for the Australian population, and will proceed to obtain TGA approval for the commercialisation of the test.

BMTH Round: Two

State: Western Australia

Project partners: The Harry Perkins Institute for Medical Research (WA), Fiona Stanley Hospital (WA) & The Baker Institute (VIC)


  • MTPConnect grant: $967,208
  • Industry contribution: $561,165

Duration: April 2020 - March 2023 (Completed)

Visit Advanced Genetics Technologies for more information.

Contact: Prof Grant Morahan