Developing Communication Strategies for Genetic Risk Testing in Glaucoma

Emmanuelle Souzeau, PhD The Flinders University of South Australia


Jamie Craig, FRANZCO, DPhil The Flinders University of South Australia


The goal of this project is to develop patient-friendly reports for risk communication of polygenic risk testing for glaucoma.

Project Details

In Aim 1, I will develop reports to communicate glaucoma polygenic risk scores to patients. I will assess the type of information, the format, the preferred visual components and the language used through interviews of participants. In Aim 2, I will deliver polygenic risk results using reports developed in Aim 1 to individuals at low, medium and high polygenic risk, as well as to individuals carrying rare variants in glaucoma-associated genes. In Aim 3, I will evaluate the psychosocial implications and the comprehension of results related to the communication of results done in Aim 2. 

The recent development of polygenic risk scores (PRS) for glaucoma makes genetic testing an ideal strategy to identify at-risk individuals who can benefit from early management to reduce preventable blindness. However, the current lack in reporting strategies to efficiently communicate PRS to patients impedes the implementation of testing in clinical practice. This proposal aims to develop the first patient-friendly reports and assess impact and comprehension of PRS communication for glaucoma, which will ultimately benefit at-risk individuals globally. 

Polygenic risk testing is a promising and novel strategy in glaucoma testing to guide screening frequency and interventions for patients. This proposal aims to develop polygenic risk score reports that are developed based on participants’ feedback and preferences, in order to be suitable to all patients who will undergo testing. Moreover, the patient-friendly reports will facilitate efficient communication with the different specialists and healthcare professionals who may be involved in ordering the tests or communicating results.