Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss. (15th November 2022)

• Record Type: Journal Article
• Authors: Freeman, Lucinda; Delatycki, Martin B.; Leach Scully, Jackie; Kirk, Edwin P.
• Is Part Of: Prenatal diagnosis. Volume 42:Number 13(2022)
• Page Start: 1658
• Page End: 1666
• Publication Date: 2022-11-15
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6253
• Languages: English
• ISSNs: 0197-3851

Abstract

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 points: What 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. What does this study add? Individuals who value the results of expanded carrier screening generally support inclusion of genes for non‐syndromic hearing loss in population screening, but with hesitation regarding support for termination of pregnancy as a reproductive decision for deafness. This group of screen‐interested consumers are also ambivalent whether knowing their chances of having a child born deaf would change their reproductive decision making.