Project summary
Monogenic retinal diseases can lead to progressive visual deterioration and blindness with a significant impact on children and young people. There are emerging genetic therapies aimed at saving vision in patients that would otherwise go blind. However, there is no research on the cost-effectiveness of ocular genomic testing in Australia. This new Luminesce Alliance project is designed to address the gap in economic evidence required to implement genomic medicine for patients with blinding retinal diseases in the Australian healthcare system.
What is the issue for NSW?
Monogenic retinal diseases can lead to progressive visual deterioration and blindness with a significant impact on children and young people. There are emerging genetic therapies aimed at saving vision in patients that would otherwise go blind. However, there is no research on the cost-effectiveness of ocular genomic testing in Australia.
However, despite this potential, there is no research on the cost of genetic blindness or the cost-effectiveness of genomic testing in Australia and few relevant international studies, all of which have significant limitations. The significant gap between the promise of genomic medicine and the economic evidence needed to make it accessible to all families who need it, presents a significant road-block for new and emerging gene therapies. This Luminesce Alliance project will fill this gap by capturing data about the cost of retinal dystrophies and the use of genomic sequencing in a clinical cohort and using this data to develop a world first economic model to provide critical evidence of the cost-effectiveness of genomic medicine for genetic blindness.
What does the research aim to do and how?
The aims of the research project are:
- To determine the costs of genetic retinal eye disease in children and across the lifespan; and,
- The cost-effectiveness of routine genomic testing
This will be the first project of its type to collect quality of life and health cost data to develop an economic model as a means to estimate the cost-effectiveness of the use of genomic testing for genetic eye conditions. It will provide a model of health economic impact of genetic blindness and the benefits that could be achieved with precision medicine.
It will also provide the economic evidence to support future Medical Services Advisory Committee (MSAC) applications for retinal dystrophies related to genetic testing and future delivery of these new clinical therapies. This will have a tangible clinical outcomes for patients and their families by directing sustainable healthcare system pathways to genetic diagnoses and the potential towards new therapeutic possibilities.
Read more about the work of Luminesce Alliance.
Partnering institutions
- Children’s Medical Research Institute
- Children’s Cancer Institute
- Sydney Children’s Hospitals Network
- University of Sydney
- Macquarie University