Dr Karen Liddle1,3, Ms Hannah Byrne2, A/Prof Aideen McInerney-Leo3, Dr Lucinda Freeman2
1Children's Health Queensland, South Brisbane, Australia, 2University of Technology Sydney, Sydney, Australia, 3Frazer Institute, The University of Queensland, Brisbane, Australia
Biography:
Hannah Byrne is a genomics researcher with a Bachelor of Advanced Science in Molecular Biology. She has extensive laboratory experience and is now completing her Masters of Genetic Counselling at the University of Technology Sydney.
Abstract
The purpose of the presentation
This presentation explores the views of laboratory scientists and clinicians on the introduction of Medicare-reimbursed genetic testing for childhood hearing loss (CHL) in Queensland paediatric practice. It aims to identify barriers and facilitators to implementing this testing nationally and contribute evidence for a Medical Services Advisory Committee (MSAC) submission seeking revision of Medicare reimbursement levels.
The nature and scope of the topic
As of November 2023, a Medicare item number allows for CHL genetic testing, including Whole Exome Sequencing (WES). Despite this state laboratories in Queensland and most other states have yet to offer these services. This study captures the perceptions of key stakeholders including clinicians and laboratory staff regarding the feasibility of offering these tests in clinical settings.
The issue or problem under consideration
While Medicare reimbursement is available for CHL genetic testing, barriers are preventing its implementation. This research examines laboratory scientists' views on the feasibility and challenges of offering these tests, as well as potential solutions. It also explores clinicians' attitudes regarding clinical utility, readiness to order genetic tests, and perceived barriers to implementation.
The outcome of the conclusion reached
By identifying barriers and facilitators, this study aims to contribute evidence for an MSAC submission. The findings will support the case for improving access to genetic testing for CHL in Australia, ensuring its integration into paediatric care and enhancing patient outcomes.