School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia.
Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.
J Genet Couns. 2024 Jun;33(3):566-577. doi: 10.1002/jgc4.1757. Epub 2023 Aug 2.
Many commercial reproductive genetic carrier screening (RGCS) panels include genes associated with non-syndromic hearing loss (NSHL), however little is known about the general acceptability of their inclusion. Although some couples wish to avoid having a deaf child, there are effective interventions and supports available for deafness, and no consensus on whether it is appropriate to reproductively screen NSHL genes. This study explored views of people with personal experience of deafness regarding carrier screening for genes associated with NSHL. We interviewed 27 participants; 14 who identified as deaf and 13 hearing parents of a deaf child. Thematic analysis was undertaken on transcripts of interviews. The findings reveal the complexity of attitudes within these groups. Some vacillated between the wish to support prospective parents' reproductive autonomy and concerns about potential harms, especially the expression of negative messages about deafness and the potential loss of acceptance in society. While some participants felt carrier screening could help prospective parents to prepare for a deaf child, there was little support for reproductive screening and termination of pregnancy. Participants emphasized the need for accurate information about the lived experience of deafness. The majority felt deafness is not as severe as other conditions included in RGCS, and most do not consider deafness as a disability. People with personal experience of deafness have diverse attitudes towards RGCS for deafness informed by their own identify and experience, and many have concerns about how it should be discussed and implemented in a population wide RGCS program.
许多商业性生殖遗传携带者筛查 (RGCS) 面板包含与非综合征性听力损失 (NSHL) 相关的基因，但对于其纳入的普遍可接受性知之甚少。虽然有些夫妇希望避免生育聋儿，但对于耳聋有有效的干预和支持措施，而且对于是否适当进行 NSHL 基因的生殖筛查也没有共识。本研究探讨了有耳聋个人经历的人对与 NSHL 相关基因的携带者筛查的看法。我们采访了 27 名参与者；14 名自认为是聋人，13 名是聋儿的听力正常父母。对访谈记录进行了主题分析。研究结果揭示了这些群体内部态度的复杂性。一些人在支持准父母生殖自主权的愿望和对潜在危害的担忧之间摇摆不定，特别是对耳聋的负面信息的表达以及在社会中可能失去接受的担忧。虽然一些参与者认为携带者筛查可以帮助准父母为聋儿做好准备，但对生殖筛查和终止妊娠的支持很少。参与者强调需要有关耳聋真实体验的准确信息。大多数人认为耳聋并不像 RGCS 中包含的其他疾病那样严重，而且大多数人不认为耳聋是一种残疾。有耳聋个人经历的人对 RGCS 有不同的态度，这是由他们自己的身份和经历所决定的，并且他们对如何在广泛的 RGCS 计划中讨论和实施它存在许多担忧。
