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Understanding genetic testing support for Aussie IRD patients

People living with an inherited eye disease (IRD) who have received genetic testing are invited to participate in a national survey led by the Centre for Eye Research Australia and the University of Melbourne.

The study, led by Dr Alexis Ceecee Britten-Jones and Associate Professor Lauren Ayton, will help researchers learn about the lived experience of those with IRD who have had genetic testing, and better understand how to support those who have genetic testing in future.

The research team is also seeking input from carers and parents of a child or dependent with an IRD, where that dependent has received genetic testing for their eye condition.

Britten-Jones said the voices of people with IRDs should drive future research in this field.

genetic testing
Dr Alexis Ceecee Britten-Jones is leading a survey into genetic testing and inherited retinal disease. Image: Mathew Lynn

“Knowing the genes that are associated with a person’s IRD is important for researchers to learn more about their specific condition and what future treatments they may be eligible for,” she said.

“Having more people with the same gene involved in our research helps us learn more about how changes to their vision are related to the gene that is associated with their IRD. This can help us develop new treatments and learn new ways to measure vision in clinical trials.

“This survey helps us capture the views of people with IRDs who have had genetic testing, so that we can better incorporate their lived experience into our research.”

By capturing their unique perspectives, Britten-Jones said the profession can better understand their experience and identify areas where people with IRDs can receive better support.

“We’re also hoping that this data will help to enhance genetic support for IRDs, for people to have easy, subsidised access to testing and support services.”

The project is a collaboration with the University of Melbourne and has been approved by the University Human Research Ethics Committee. Co-researchers on the project are Ms Sujani Thrimawithana, Ms Fleur O’Hare, Dr Thomas Edwards, Associate Professor Heather Mack, Mr Joshua Schultz, Ms Lisa Kearns, Dr Jonathan Ruddle, Dr Aamira Huq, Professor Alex Hewitt and Professor David Mackey.

Britten-Jones said the IRD genetic testing survey can be done anonymously if preferred and takes between 10-20 minutes.

It asks about people’s motivations for having genetic testing, experiences and feelings surrounding receiving genetic test results, opinions on the value of the testing, and knowledge of potential new gene therapy treatments.

“This data will be used to identify gaps and areas where we can improve genetic support and education,” Britten-Jones stated.

“We can also use this data to advocate for genetic testing and genetic support services for people with IRDs. We want to provide a strong support framework for people who are having genetic testing, and also people who are part of clinical trials and other clinical research programs.”

A summary of findings will be made available to the participant via email (if provided), and through support groups, social media and academic journals. They will also be presented at national and international scientific conferences.

To know more about the survey, or you’d like to participate, visit Your thoughts on genetic testing for IRDs.

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