The study, led by and , will help researchers learn about the lived experience of those with who have had genetic testing, and better understand how to support those who choose to have genetic testing in the 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.
“We strongly believe that the voices of people with IRDs should help drive future research in this field,” Dr Britten-Jones says.
“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.
“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, we can better understand their experience and identify areas where we can provide people with IRDs with 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 genetic testing and genetic support services.”
This 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, , , Mr Joshua Schultz, Dr Jonathan Ruddle, Dr Aamira Huq, and Prof David Mackey.
Dr Britten-Jones says the can be done anonymously if preferred, and should only take between 10-20 minutes to complete.
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,” Dr Britten-Jones explains. “We can also use this data to advocate for genetic testing and genetic support services for people with IRDs.
Providing support
“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 .”
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.
“We’re hoping that findings from this study can help inform how we as researchers can better support people with IRDs who go through these processes in the future.
“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, are,” Dr Britten-Jones says.
“We are so grateful for the involvement of participants with IRDs who contribute towards our research, both as a part of this study and in the past.”
If you would like to know more about the survey, or you’d like to participate, visit
Five years ago, someone diagnosed with an would have been told that progressive and irreversible vision loss was inevitable.
Inherited retinal diseases (IRDs) are also called inherited retinal degenerations or inherited retinal dystrophy.
