Inherited Retinal Diseases – Health Economics and Health Implementation

Project Overview

Inherited retinal diseases (IRDs) can lead to progressive vision loss, particularly affecting children and young individuals. Emerging genetic therapies aim to prevent blindness in these patients, but there is currently no research on the cost-effectiveness of ocular genomic testing in Australia. The Luminesce Alliance project sought to address this gap in economic evidence, aiming to support the integration of genomic medicine into the Australian healthcare system for individuals with blinding retinal diseases.

Through the use of a microsimulation model, the research teams estimated the lifetime cost of living with an inherited eye disease in Australia at $5.2 million per person. Importantly, a significant portion of this financial burden falls on affected individuals and their families, with societal costs (including government support and lost income) accounting for 87% of all costs, while healthcare expenses constitute only 13%

The findings have been published in The Medical Journal of Australia, thanks to the work of teams from Sydney Children’s Hospitals Network, Children’s Medical Research Institute, Save Sight Institute, Macquarie University and the University of Sydney and have confirmed the need for further investment in research for blinding eye conditions.

Notably, this project marked the first of its kind to gather data on quality of life and health-related costs, facilitating the development of an economic model to assess the cost-effectiveness of utilising genomic testing for genetic eye conditions.


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



For the first time, the lifetime cost of living with an inherited eye disease in Australia is estimated at $5.2 million per person. Over one-third of these costs result from lost individual and family income. Increased research funding for blinding eye conditions is urgently needed.

Lead Investigators

  • Robyn_Jamieson@2x

    Professor Robyn Jamieson

    Head, Eye Genetics Research Unit Children’s Medical Research Institute