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Abstract
The purpose of reproductive genetic carrier screening (RGCS) is to inform prospective parents of their chances of having a child with the conditions being screened so they can consider their reproductive decision making. Genes associated with non-syndromic hearing loss (NSHL) are often included in RGCS panels, which are now routinely offered in preconception and prenatal care in many countries. This is despite a lack of evidence of acceptability by stakeholders. There is considerable debate about whether hearing loss should be considered a medical condition that is appropriate for screening, given the lack of consensus on whether deafness is a disabling condition. Although some couples wish to avoid having a deaf child, there are effective interventions and supports available. This research explores stakeholder views regarding the inclusion of genes associated with NSHL in RGCS. Firstly, a systematic review identified the various attitudes regarding genetic testing for deafness in the reproductive setting and highlighted a lack of data on RGCS and the reproductive option of pre-implantation genetic testing (PGT-M). My research then involved surveying two stakeholder groups on their views on including genes for NSHL in RGCS: (i) Australian healthcare professionals; and (ii) individuals in the general public who participated in RGCS through an Australian government funded pilot study exploring the acceptability of RGCS (called Mackenzie’s Mission). I also interviewed 27 people who are deaf themselves or are parents of a deaf child to explore their views on this topic. There was support across all stakeholder groups for including genes associated with NSHL in RGCS as they viewed inclusion of these genes would uphold prospective parents’ reproductive autonomy and provides information to couples planning pregnancy. However, all stakeholder groups expressed significant concerns about the harms that could come from including these genes in a government-funded population-wide carrier screening program. Results also highlighted the minimal support for using reproductive options to avoid having a child born deaf. These findings underline the complexity of arguments on the inclusion of deafness in RGCS, and how different reproductive options are viewed from different perspectives. For deafness to be included in RGCS, ideally there should be a consensus from stakeholders that the benefits outweigh the harms, and this was not clearly demonstrated in this thesis. What was clearly demonstrated is that there continue to be divided views on whether deafness is a disability. If policy makers consider that inclusion of deafness in a population wide offer of RGCS has utility to society, then they should consider how to do this responsibly, preventing potential harms to the Deaf community and broader society.
