Genetic testing for heritable heart disease cost effective

Dr Jodie Ingles

Dr Jodie Ingles

Genetic testing for the most common genetic heart disorder, hypertrophic cardiomyopathy, can save money as well as lives, according to a study from the Centenary Institute just published in the British journal Heart.

The research was based on data from the National Genetic Heart Disease Registry. Lead author was National Registry Coordinator, Dr Jodie Ingles and senior author, the Registry Advisory Chair, Professor Chris Semsarian.

Although genetic testing is marginally more expensive at present than the current practice of regular clinical screening, the researchers from the Centenary Institute and University of Sydney, with colleagues from Griffith University and the Royal Brisbane and Womens Hospital, showed that it increased the quality of life of patients and had the potential in the near future to save money as the price of testing came down. “The good news is that this is expected to happen within the next year due to vast improvements in technologies,” Jodie says.

Genetic testing can also identify family members who do not the genetic fault which puts them at risk. “This can also free up resources to help people with disease and reduce demands on our healthcare budget,” Chris Semsarian says.

Hypertrophic cardiomyopathy is an inherited disorder which leads to thickening of the heart muscle and affects about one in 500. Those who have it may never show any symptoms, but it can lead to sudden death, especially under the stress of competitive sport.

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