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First completed clinical project shows benefit of genomics for families with DCM

The Melbourne Genomics clinical project investigating the impact of genomic sequencing for the genetic heart condition dilated cardiomyopathy (DCM), has become the first of our projects to be finalised – with all activities now delivered.

The DCM project has completed recruitment, returned results to patients, finalised data analysis and submitted an evidence report to the Victorian Government. A workshop for cardiac clinicians was also held last year, enabling more cardiologists to gain skills in genomics.

This project also hosted Melbourne Genomics’ first recipient of a bioinformatics bursary, Ms Jia An Yu (who has subsequently been employed in bioinformatics by another Alliance member, Peter MacCallum Cancer Centre).

Involving a multidisciplinary team of 21 health professionals from The Royal Melbourne Hospital, The Royal Children’s Hospital, Monash Health and Austin Health, the DCM project provided genomic sequencing to 94 adult and child patients.

The project showed that genomics’ ability to improve the targeting of cardiac monitoring for family members has the potential to be cost-effective in Victoria. Health economic analysis indicated that there are benefits for families and the healthcare system.

Cardiac ‘surveillance’ is generally offered to all relatives of someone with a diagnosis of DCM – this can mean regular cardiology appointments and monitoring, or even implantation of a defibrillator in some cases. However, if testing shows a family member hasn’t inherited the gene change responsible for causing DCM in their relative, then such surveillance is not necessary.

“DCM is caused by the heart muscle stretching and becoming thinner (dilating), which can cause heart failure and sudden cardiac death. At least one-third of unexplained DCM cases are believed to be caused by a single gene change,” said cardiac specialist genetic counsellor Ivan Macciocca.

In one notable case, the lives of two siblings were potentially saved by early identification of the genetic change causing DCM in their family: the change was initially identified in one sibling, and subsequently in her brother through ‘cascade’ testing for the single gene change responsible. Both siblings have now been fitted with defibrillator implants to prevent sudden heart failure.

The DCM project was led by Associate Professor Paul James from Royal Melbourne Hospital, and the coordinating clinician was Dr Jay Ramchand, from Austin Health.

This project’s work is now being leveraged for a national Cardiovascular Genetic Disorders project, under the auspices of Australian Genomics.