Notini Lauren, Gaff Clara L, Savulescu Julian, Vears Danya F
Melbourne Law School, University of Melbourne, Carlton, Melbourne 3052, Australia.
Biomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, Melbourne 3052, Australia.
J Clin Med. 2021 Dec 22;11(1):35. doi: 10.3390/jcm11010035.
Exome sequencing (ES) is an effective method for identifying the genetic cause of hearing loss in infants diagnosed through newborn hearing screening programs. ES has the potential to be integrated into routine clinical care, yet little is known about the experiences of clinicians offering this test to families. To address this gap, clinicians involved in a clinical study using ES to identify the cause of infants' hearing loss were interviewed to explore their experiences with offering and returning results to parents. Interview transcripts were analysed using inductive content analysis. Twelve clinicians participated: seven genetic counsellors, four clinical geneticists, and one paediatrician. Most clinicians were supportive of offering ES to infants with hearing loss, primarily because results may inform the child's clinical management. However, some expressed concerns, questioning the utility of this information, particularly for isolated hearing loss. Clinicians had differing views regarding the optimal time to offer ES to families; while some felt that families can manage everything at once, others recommended delaying testing until parents have come to terms with their child's diagnosis. These findings show the complexity involved in determining how ES should be offered to families following the diagnosis of a child with hearing loss, particularly with regards to when testing is suggested.
外显子组测序（ES）是一种有效的方法，用于确定通过新生儿听力筛查项目诊断出的婴儿听力损失的遗传原因。ES有潜力被纳入常规临床护理中，但对于向家庭提供这项检测的临床医生的经历却知之甚少。为了填补这一空白，参与一项使用ES来确定婴儿听力损失原因的临床研究的临床医生接受了访谈，以探讨他们向家长提供检测结果和反馈结果的经历。访谈记录采用归纳性内容分析法进行分析。12名临床医生参与了访谈：7名遗传咨询师、4名临床遗传学家和1名儿科医生。大多数临床医生支持向听力损失婴儿提供ES，主要是因为检测结果可能为患儿的临床管理提供依据。然而，一些人表达了担忧，质疑这些信息的实用性，尤其是对于单纯性听力损失。临床医生对于向家庭提供ES的最佳时机有不同看法；一些人认为家庭可以一次性处理所有事情，而另一些人则建议推迟检测，直到家长接受孩子的诊断。这些发现表明，在确定诊断出听力损失的儿童后应如何向家庭提供ES方面存在复杂性，特别是在建议检测的时间方面。
