Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss

Abstract

Objective: Reproductive genetic carrier screening (RGCS) panels often include genes associated with non-syndromic hearing loss (NSHL) despite a lack of evidence of acceptability. Although some couples take steps to avoid having a child who is deaf, there are effective interventions for children who are deaf. There is no consensus whether deafness is considered a disabling condition.Method: This study explored views of people who had RGCS, without genes for NSHL, about this topic. Online surveys were sent to 2186 people who had a low chance RGCS result and 655 completed the survey (participation rate 30%). Results: Sixty-three percent (N = 412) think deafness is a serious health condition. The majority agreed (60%, N = 391) that with support (i.e. hearing aids/cochlear implants) deafness is a minor condition in children. Most (84%, N = 545) agreed genes for NSHL should be included in RGCS. Thirty-five percent (N = 231) indicated they would make different reproductive decisions if they had an increased chance of having a child born deaf; 31% would not change their reproductive plans and 34%were unsure what they would do. Conclusion:While the majority support inclusion of genes associated with NSHL in RGCS, there was uncertainty about the severity of deafness as a health condition and there was no consensus on whether it is a health condition that warrants changing reproductive decisions. Key pointsWhat is already known about this topic? � Genes for non-syndromic hearing loss are already included in many commercial expanded carrier screening panels, yet little is known on the acceptability or utility of their inclusion.Whether deafness is a disability is continually discussed in the literature and research so far has identified mixed views on the utility of genetic testing for deafness in the reproductive setting.