Scientists Lead Seminal Series on the Future of Precision Medicine

Precision medicine is transforming our understanding of heart disease – from diagnosis and screening, to delivering new treatments

17 May 2021

The incredible advancements in precision medicine and its impact on heart disease have been published across five landmark papers in the prestigious Journal of American College of Cardiology (JACC).

The Institute’s Executive Director Jason Kovacic was the coordinating author on each of the five papers and for the entire series, with Professor Diane Fatkin as the lead author on one of the papers and Professor Sally Dunwoodie also providing significant input into this highly significant and influential body of work. In addition, Professor Christopher Semsarian from the Centenary Institute led another of the papers.

Professor Jason Kovacic said precision medicine was fundamentally changing the way patients are diagnosed and treated.

“We have seen huge leaps forward in our understanding of this field in just the last two to three years.

“We’ve been able to delve into our genetic make-up in a way that we never would have dreamed possible, and that is now on the cusp of really delivering personalised medicine that will transform the way we treat people with heart disease – from the very rarest of diseases to those that affect millions of Australians every single day.”

It seems very likely that genetic testing to predict risk factors for developing a whole range of diseases will become far more accurate in the coming years. The field of genetic therapy is also evolving rapidly, so that common diseases like high cholesterol might be soon treated with a one-off injection rather than years of costly medications.

Professor Kovacic said: “We are not there yet, but we are not far off. ‘Precision medicine’ is becoming the ‘precise’ field it needs to be. Patients will soon be able to know their exact risk for developing a range of different heart diseases, or other diseases such as diseases like prostate cancer. If you were armed with this incredibly valuable knowledge, you can modify other risk factors to stay healthy and be tested regularly. That’s a game changer.”

The world of genetics is also opening many new treatment options for rarer heart diseases caused by a single dominant gene mutation – such as hypertrophic cardiomyopathy. But scientists are now able to drill down into diseases such as coronary heart disease, which has at its heart hundreds of thousands of genetic mutations.

Professor Fatkin said: “We are now beginning to understand which genetic variants are the most significant and likely to cause disease. Now we are starting to identify these types of high-risk variants, we can work on finding new treatments. Our lifestyles are also very important. We can't change our genes, but we can change factors such as diet, exercise, and alcohol consumption that may act together with genetic make-up to promote heart dysfunction.

The series of five papers provide the latest research updates on a range of heart diseases, including heart muscle disease, vascular disorders, and heart rhythm abnormalities such as Atrial Fibrillation.

The final paper focuses on the relatively rare arrhythmic heart disease CPVT (catecholaminergic polymorphic ventricular tachycardia), which can cause sudden cardiac arrest. The paper’s authors propose it should be now classified according to its very recently recognized ‘typical’ or ‘atypical’ forms.

Professor Kovacic said: “We have only just learnt that the genetic make-up of this atypical group of patients differs from those with the more typical form. Not only do they present with subtly different features, but they may also require different treatments.

“By making this important distinction between the typical and atypical forms, it will allow us to better target each of the specific genetic changes that underlies these different forms with precision medicine approaches. That’s vital given how deadly this disease can be.”

A prestigious international team of researchers contributed to the series, including authors from the University of Sydney, University of New South Wales, University of Melbourne, John Hopkins School of Medicine, Mayo Clinic, University College London, University of Pavia, University of Virginia, the Karolinksa Institute, and the Icahn School of Medicine at Mount Sinai.

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