New discovery a game changer in diagnosing genetic heart disease

17 July 2018
Researchers have discovered that whole genome sequencing can boost the diagnostic pick-up rate in people with cardiomyopathy, a common genetic heart condition, by up to 20 percent.

Researchers from University of Sydney, Centenary Institute, and Royal Prince Alfred Hospital have used state-of-the-art technology to significantly improve the diagnosis rate of a potentially deadly heart condition by up to 20 percent.

Hypertrophic cardiomyopathy is a common genetic heart condition, which can affect men and women at any age. It occurs when the heart muscle thickens making it difficult for the heart to pump blood, and can result in sudden cardiac death.

The study, published today in the Journal of the American College of Cardiology, showed for the first time how whole genome sequencing can boost the diagnostic pick-up rate in people with cardiomyopathy by up to 20 percent.

Led by Professor Chris Semsarian AM, the research team used whole genome sequencing to explore hypertrophic cardiomyopathy in 58 Australian families, who are directly affected by the disease. This allows investigation into the regions of patients’ genes which were previously not considered important.

The study revealed changes in introns, previously referred to as “junk DNA”, resulted in changes to the heart muscle, and could lead to disease. Also how changes to mitochondria (the organelles which generate energy for the cell) generated similar changes.

“It’s a game-changer in the field,” said lead author Dr Richard Bagnall from Sydney Medical School and the Centenary Institute’s Molecular Cardiology Program.

“This study shows we can use this incredible technology to diagnose hypertrophic cardiomyopathy in 2-out-of-10 more families.

“But there is a lot more information within those whole genomes we haven’t even had a look at yet, so this is really just scraping the surface of what’s possible.”

University of Sydney Professor Chris Semsarian AM said: “The study is a much more robust approach to genetic diagnosis in cardiomyopathy.

“This is precision medicine – finding the exact genetic change which is leading to disease in individual patients.

“The next step is to then link those genetic changes with the clinical features of these patients,” said Professor Semsarian, who is Head of Centenary’s Molecular Cardiology Program and a cardiologist at Royal Prince Alfred Hospital.

“While this study shows how we can use whole genome sequencing in diagnosis, the technique is also crucial for guiding more effective and targeted therapies in the future.”

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