March 9, 2020

Results from the Melbourne Genomics clinical project investigating the impact of genomic testing for the heart condition dilated cardiomyopathy (DCM) have now been published.

DCM is one of 16 areas of health investigated by Melbourne Genomics. This condition reduces the heart’s pumping function – the heart muscle stretches and thins (dilates) – which can cause heart failure and sudden cardiac death.

The clinical project team – led by A/Prof Paul James, Clinical Geneticist from the Royal Melbourne Hospital, with key coordination from cardiologist Dr Jay Ramchand of Austin Health – have now published two peer-reviewed papers detailing key findings from the study.

The team’s investigation of whole exome sequencing as a first-line test for patients with DCM in a real-world setting found that genomic testing with targeted analysis was time-efficient and overall an effective diagnostic tool for patients with DCM.

This publication, in the Journal of the American Heart Association, concludes that genomic testing is most beneficial for paediatric patients or patients who have a family history of cardiomyopathy or sudden cardiac death.

The team also completed a cost-effectiveness analysis led by health economics researcher Max Catchpool (The University of Melbourne).

In usual care, medical monitoring (surveillance) is generally offered to all relatives of someone diagnosed with DCM. This can mean regular cardiology specialist appointments and monitoring, or defibrillator implantation in some cases.

Findings from our study show that surveillance guided by genomic sequencing (for the patient) and 'cascade' genetic testing (for relatives) is more cost-effective than usual care. This is because genomic test results offer the opportunity to target surveillance to only the relatives who carry the genetic change responsible for DCM.

Prioritising molecular diagnostic testing (whole exome sequencing or multi-gene panel testing) for adults with a family history and children with DCM would enable the relatives of patients who received a diagnosis to definitively identify whether they require ongoing medical monitoring for DCM.

The Dilated Cardiomyopathy Clinical Flagship recruited a total of 94 adult and child patients between April 2016 and August 2017. Patients were from Austin Health, Monash Health, The Royal Melbourne Hospital and the Royal Children’s Hospital. They are among more than 3,800 adult and paediatric patients who have received genomic testing through Melbourne Genomics.

A multidisciplinary team of 21 health professionals from across the Melbourne Genomics member organisations were directly involved in this project.


Profile of the Dilated Cardiomyopathy Clinical Flagship

What is dilated cardiomyopathy and how can genomics help?

Melbourne Genomics list of publications



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