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.

The aims of the project are:
1. To determine the costs of genetic retinal eye disease in children and across the lifespan
2. 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.

Collaborations

• Children’s Medical Research Institute
• The Children’s Hospital Network (at Westmead)
• The University of Sydney
• Macquarie University