The Power of Genomics

Thousands of Australians die every year from sudden cardiac death (SCD).

We’re using genomics to better understand how to prevent diseases and their potentially traumatic outcomes, such as SCD.

Sudden cardiac death (SCD) occurs when the heart goes into cardiac arrest. We know that when this happens in young people, the cause is often an underlying inherited heart disease such as hypertrophic cardiomyopathy (HCM). But there is so much we don’t yet understand about the genetics of inherited heart diseases, which can have life-changing impacts on individuals and their families. 

Associate Professor Jodie Ingles, Head of the Clinical Genomics Lab at the Center for Population Genomics, has been a genetic counsellor for over 18 years. She’s witnessed firsthand the significant trauma and grief caused by SCD in the young. A/Prof Ingles’ pioneering work in cardiac genomics aims to understand how we can use genomics to find a diagnosis for people and predict who will experience the most severe outcomes of these diseases – and to translate these findings into real-world clinical settings.

A/Prof Jodie Ingles

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2 Australians every hour die of SCD
One in Two
35 years and over

For those with a diagnosis of HCM, there is a 1 in 2 risk that each family member has also inherited the disease, but there is very little predictability around who is at a greater risk of SCD. These families not only often have to live with the experience of a young person passing suddenly, but 50% will also live with a condition where the rare outcome can be SCD and not knowing if or when or to whom in the family that will happen. 

A/Prof Ingles aims to use the power of genomics and big data to uncover the genetic indicators of cardiac arrest in those diagnosed with HCM, enabling interventions, preventing SCD, and giving certainty and answers to families. Her research is an essential step forward in discovering how to better diagnose and treat these rare yet potentially devastating genetic diseases. Ultimately, A/Prof Ingles aims to prevent the tragedy of SCD for young people and their families. 

The power of big data to find answers 

To achieve these ambitious goals, A/Prof Ingles aims to build and utilise large patient cohorts that pose diverse genetic data that will help us explore inherited heart disease more comprehensively than ever before. 

Big data has the potential to power unparalleled advancements in human health, but this progress will be limited by the quality, magnitude and diversity of the genomic data available to researchers and clinicians. A/Prof Ingles’ work is groundbreaking in so many ways, not least because of her focus on closing the equity gap and including diverse and too-often overlooked parts of our population. 

A/Prof Ingles’ first mission is to widen her pool of data by recruiting families with inherited heart disease beyond our current recruitment methods. This means reaching out to the broader population and forming partnerships that encourage awareness in harder-to-reach parts of our community, such as remote and regional areas, and families from non-English speaking backgrounds. 

The next decade will be a game-changer for genomic medicine, informed by the explosion in our understanding of the connection between differences in our genetics and our individual physical traits and health. Here at Garvan, we are working to accelerate the pace of genetic discoveries like these to bring better treatments directly to the clinic – but we can’t do it without your help.