Joshua Kraindler - A microsimulation model to estimate the quality of life and cost of inherited retinal diseases

  • Presenting author: Joshua Kraindler (GenIMPACT, Macquarie University)

  • Authors: Deborah Schofield, Joshua Kraindler, Owen Tan, Rupendra Shrestha, Diana Jelovic, Sarah West, Natalie Hart, Alan Ma, John Grigg, Robyn V Jamieson

  • Session: C02B - Health [3] - Wednesday 11:00-12:30 - Marietta-Blau Hall

  • Slides: PDF


There is significant quality of life impacts, and societal and health costs for patients and families with inherited retinal diseases. With one currently approved gene therapy and many in trials, comprehensive data and modelling is required to support funding of therapies for patients.


We developed a microsimulation model to estimate the quality of life, and health and societal costs of inherited retinal diseases. Primary data was collected from a clinical cohort of IRD patients and their carers and spouses. This data was linked with administrative health data in a microsimulation model to estimate costs across different categories and over time as patients age and the diseases progress. The model can produce estimates of quality of life impacts of IRDs at different ages and progression of the disease, as well as health and societal costs during these stages.


Health related quality of life for patients and carers declines as vision loss progresses. Similarly, the costs of IRDs rise as vision loss progresses, though this varies by age. The microsimulation model can capture these impacts at different stages of the disease.


A microsimulation model of IRDs allows for policy relevant simulations of costs and quality of life outcomes for both patients and families at different ages and disease progression. This provides a platform for evaluating the cost-effectiveness for testing and targeted interventions for IRDs, including genomic testing, gene therapies and IVF with PGD.