PDF(Pubmed)
Abstract：
BACKGROUND: Counseling for whole-exome sequencing (WES) could benefit from aligning parents\' pre- and post-disclosure attitudes. A few studies have qualitatively compared parents\' pre- and post-disclosure attitudes toward receiving WES results for their child in a diagnostic setting. This study explored these attitudes in the context of children with a developmental delay.
METHODS: Semi-structured interviews were conducted with parents (n = 27) of 16 children undergoing diagnostic WES in trio-analysis, both before and after receiving results.
RESULTS: Three key insights emerged. First, the distinction between hoping and expecting was relevant for shaping parents\' experiences with receiving results related to the primary indication. Second, parents of young children whose development of autonomous capacities was uncertain sometimes found themselves in a situation resembling a Catch-22 when confronted with decisions about unsolicited findings (UFs): an important reason for consenting to WES was to gain a better picture of how the child might develop, but in order to make responsible choices about UFs, some ideas of their child\'s development is needed. Third, default opt-ins and opt-outs helped parents fathom new kinds of considerations for accepting or declining UFs in different categories, thereby aiding decision-making.
CONCLUSIONS: Results from this study are relevant for counseling and policy development.
METHODS: Semi-structured interviews were conducted with parents (n = 27) of 16 children undergoing diagnostic WES in trio-analysis, both before and after receiving results.
RESULTS: Three key insights emerged. First, the distinction between hoping and expecting was relevant for shaping parents\' experiences with receiving results related to the primary indication. Second, parents of young children whose development of autonomous capacities was uncertain sometimes found themselves in a situation resembling a Catch-22 when confronted with decisions about unsolicited findings (UFs): an important reason for consenting to WES was to gain a better picture of how the child might develop, but in order to make responsible choices about UFs, some ideas of their child\'s development is needed. Third, default opt-ins and opt-outs helped parents fathom new kinds of considerations for accepting or declining UFs in different categories, thereby aiding decision-making.
CONCLUSIONS: Results from this study are relevant for counseling and policy development.
摘要：
背景：全外显子组测序（WES）的咨询可以受益于父母在披露前后的态度。一些研究定性比较了父母在诊断环境中接受WES结果之前和之后的态度。这项研究在发育迟缓儿童的背景下探讨了这些态度。
方法：在三项分析中，对16名接受诊断性WES的儿童的父母（n=27）进行了半结构化访谈，收到结果之前和之后。
结果：出现了三个关键见解。首先,希望和期待之间的区别与塑造父母接受与主要适应症相关的结果的经验有关。第二,自主能力发展不确定的幼儿的父母有时会在面对有关未经请求的发现（UFs）的决定时发现自己处于类似Catch-22的情况：同意WES的重要原因是要更好地了解儿童如何发展，但是为了对UF做出负责任的选择，他们的孩子的发展需要一些想法。第三，默认选择加入和选择退出帮助父母理解接受或拒绝不同类别UF的新考虑因素，从而帮助决策。
结论：这项研究的结果与咨询和政策制定有关。
方法：在三项分析中，对16名接受诊断性WES的儿童的父母（n=27）进行了半结构化访谈，收到结果之前和之后。
结果：出现了三个关键见解。首先,希望和期待之间的区别与塑造父母接受与主要适应症相关的结果的经验有关。第二,自主能力发展不确定的幼儿的父母有时会在面对有关未经请求的发现（UFs）的决定时发现自己处于类似Catch-22的情况：同意WES的重要原因是要更好地了解儿童如何发展，但是为了对UF做出负责任的选择，他们的孩子的发展需要一些想法。第三，默认选择加入和选择退出帮助父母理解接受或拒绝不同类别UF的新考虑因素，从而帮助决策。
结论：这项研究的结果与咨询和政策制定有关。
