Dr Lucinda Freeman1, Prof Martin Delatycki2,3, Prof Jackie Leach Scully4, Prof Edwin Kirk5
1Graduate School of Health, University of Technology Sydney, , Australia, 2Victorian Clinical Genetics Services, Parkville, Australia, 3Murdoch Children's Research Institute, Parkville, Australia, 4UNSW Sydney, Disability Innovation Institute, Randwick, Australia, 5Sydney Children's Hospital, Randwick, Centre for Clinical Genetics, , Australia
Biography:
Lucinda joined the Graduate School of Health at UTS as Head of Discipline, Genetic Counselling in 2022.
Prior to moving to UTS, Lucinda was a Senior Genetic Counsellor in several large genetic services in metropolitan Sydney and worked as a Research Genetic Counsellor with Mackenzie's Mission. Lucinda is a Churchill Fellow and is a past secretary of the Australasian Society of Genetic Counsellors and Chairperson of the NSW Genetic Counsellor Advisory Board with NSW Health.
Abstract
Background: Some couples wish to avoid having a child born deaf, even though there are effective interventions and supports. There is no consensus on whether deafness should be included in reproductive genetic carrier screening (RGCS). This is problematic as governments consider implementation of population RGCS programs.
Aim: This study explored views of multiple stakeholders regarding the inclusion of genes associated with non-syndromic hearing loss in RGCS.
Methods: This study used both quantitative and qualitative data collection methods to identify key themes across stakeholders. Collective data was analysed using stakeholder analysis theory.
Results: All stakeholder groups showed complex attitudes. A desire to support reproductive autonomy could be in tension with concerns about potential harms, such as sending negative messages about deafness. The findings suggest that inclusion of genes associated with NSHL could cause harm as the offer intrinsically may carry the message that a couple may wish to avoid having a child born deaf and secondly that this could lead to reduced empathy and acceptance for differences in society. Stakeholders however also recognised that inclusion of these genes supports access to information and choice. In addition, all stakeholders acknowledged the complexity of defining the severity of deafness, especially
when compared to other conditions included in RGCS.
Conclusion: The findings provide some support for inclusion of genes associated with NSHL but identified strong concerns that need to be addressed in the development of a RGCS program.