New discovery a game changer in diagnosing genetic heart disease
Researchers from University of Sydney, , 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聽, 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鈥� genes which were previously not considered important.
The study revealed changes in introns, previously referred to as 鈥渏unk DNA鈥�, 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.
鈥淚t鈥檚 a game-changer in the field,鈥� said lead author聽听蹿谤辞尘 and the Centenary Institute鈥檚 Molecular Cardiology Program.
鈥淭his study shows we can use this incredible technology to diagnose hypertrophic cardiomyopathy in 2-out-of-10 more families.
鈥淏ut there is a lot more information within those whole genomes we haven鈥檛 even had a look at yet, so this is really just scraping the surface of what鈥檚 possible.鈥�
University of Sydney Professor Chris Semsarian AM said: 鈥淭he study is a much more robust approach to genetic diagnosis in cardiomyopathy.
鈥淭his is precision medicine 鈥� finding the exact genetic change which is leading to disease in individual patients.
鈥淭he next step is to then link those genetic changes with the clinical features of these patients,鈥� said Professor Semsarian, who is Head of Centenary鈥檚 Molecular Cardiology Program and a cardiologist at Royal Prince Alfred Hospital.
鈥淲hile 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.鈥�
