A new survey from Melbourne institutions has revealed Australians with inherited retinal disease (IRD) have a strong interest in undergoing gene therapy – but there’s a critical need for education programs to help them make informed choices about future treatments.
The survey also found patients with IRDs were more likely to obtain information from the internet, rather than an ophthalmologist, while out-of-pocket costs and potential side effects of treatment were perceived as barriers to treatment.
The study, led by the Centre for Eye Research Australia and University of Melbourne and published in Gene Therapy on 2 October, reveals the results of the first national survey of Australians living with IRD and their carers.
IRD is the umbrella term for broad group of genetic eye conditions – including retinitis pigmentosa and Stargardt’s disease – that cause progressive vison loss and blindness. They are the most common cause of blindness in working-age Australians, affecting more than 13,000 people nationally.
The study was led by Associate Professor Heather Mack and Associate Professor Lauren Ayton and provides new insight into patients’ knowledge of emerging gene therapies, the methods used, their willingness undergo future treatments and their views on the potential costs and logistics.
“Until recently, someone diagnosed with an IRD would be told their condition was incurable and advised to prepare for a life of progressive, irreversible vision loss,” Ayton said.
“But rapid advances in gene therapy are for the first time offering the potential of treatments that will stall, or even reverse vision loss. There is now an approved gene therapy for a rare form of retinitis pigmentosa and there are multiple clinical trials of gene therapies for other genetic eye conditions underway around the world.
“It’s essential that patients have the information they need to make informed choices in the future.”
An estimated 5% of Australians with IRD, almost 700 people, completed the survey. Key findings included:
- 92% said they would be interested in having a gene therapy if one became available for their condition in future
- 28% said they had a good understanding of gene therapies
- 49% got their information about gene therapy from the internet than their ophthalmologist, 37.9%
- 60% identified one or more barriers to receiving gene therapy including out-of-pocket costs (30.5%) or fear of side effects (27%)
- 79% said a government subsidy for gene therapy was a good use of taxpayer money but less than half believed the government or private health insurance should pay all of the costs.
- 77% would travel interstate for treatment.
Mack said the findings demonstrated the need for continuing, targeted education about the outcomes and risks of gene therapy, and the difference between clinical research and approved treatments.
“Education of both patients and eyecare professionals will be critical to fill knowledge gaps and a lack of confidence in understanding treatment options,’’ she said.
“This will require continually evolving education of both potential recipients of gene therapy and eyecare providers as new technologies and treatments are rolled out.’’
This inherited retinal disease survey of Australians was funded by National Health and Medical Research Council and Retina Australia. CERA receives Operational Infrastructure Support from the Victorian Government.
More reading
Detection of inherited retinal diseases in primary care
Inherited retinal diseases – the patient journey
