Registry Key To Understanding

Registry information is producing award-winning research and unique insight into genetic heart disease in Australia, writes National Coordinator Jodie Ingles.

With more than 1000 people now enrolled on the National Genetic Heart Disease Registry, I’m excited about the progress that has been made over the past four years to establish the first registry of its type in the world.

When I first set this up as part of my PhD in 2007 I didn’t think we would come this far in such a short time. But people have really embraced the Registry as a way to make a difference. Many new participants tell me they’re happy to join if it means it could help other families.

As the world’s first registry for people with genetic heart disease we’re certainly at the forefront in improving our understanding of genetic heart disease.

At the recent national conference for the Cardiac Society of Australia and New Zealand, I presented research on the cost-effectiveness of genetic testing for hypertrophic cardiomyopathy and I was honoured to receive the prestigious CSANZ 2011 Allied Health and Technologists Affiliate Prize at this major meeting for Australian cardiologists. Access to genetic testing is something that impacts a number of our families enrolled in the Registry and we hope our research will aim to change this.

While awards are a great acknowledgement it’s not the reason we established the Registry.

By enrolling every Australian with a genetic heart disease and their close family members in the Registry, we aim to provide a clear picture of how these conditions are diagnosed and treated in Australia. As someone who has worked with families experiencing the diagnosis of genetic heart disease (sadly, sometimes after losing a young family member), I believe the Registry can help lead to new ideas and better ways to prevent, diagnose and treat genetic heart disease.

1000+ people on the Registry is a fantastic achievement but we still have a long way to go. In the past year we’ve noticed a real jump in the number of people who want to be involved and we hope this continues.

I encourage all families with a genetic heart disease to enrol in our Registry. It doesn’t take long and no needles or lengthy surveys are involved (unless you agree to any future research projects 🙂 ). Email or call me on 02 9565 6185 if you’d like to register online or have an enrolment pack mailed to you (or even if you’d just like to chat more before you decide to join).

Dr Jodie Ingles