A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
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DOI：
10.1016/j.ajhg.2020.10.004
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发表时间：
2020-11-05
影响因子：
9.8
通讯作者：
Bloss, Cinnamon S.
中科院分区：
文献类型：
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作者：
Cakici, Julie A.;Dimmock, David P.;Bloss, Cinnamon S.
快速诊断基因组测序最近成为可行的重症监护病房（ICU）的婴儿。然而，关于父母的感知效用，同意的充分性，以及潜在的危害和好处的研究是缺乏的。在此，我们报告了来自第二次基因组医学和公共卫生新生儿测序（NSIGHT 2）研究的这些领域的父母调查结果，这是一项在区域ICU中进行的婴儿快速诊断基因组测序的随机对照试验。超过90%的父母报告说，他们对诊断性基因组测序感到足够知情。尽管117名接受基因组诊断的婴儿中只有23%（27），但161名父母中有97%（156）的人报告说测试至少有些用处，50.3%（88/161）的人报告说没有决定性后悔（中位数0，平均值10，范围0-100）。117个家庭中有5个（4.3%）报告了伤害。随访时，1例（1%）确认对儿童和父母的伤害与阴性结果/未诊断有关，2例（2%）报告压力或困惑，2例（2%）否认伤害。在111名婴儿中，81%（89）的家庭和临床医生同意基因组结果是有用的。在临床医生认为基因组检测有害的家庭中，没有父母报告有害。阳性检测/基因组诊断更经常被父母认为是有用的，有利于他们的婴儿，并有助于管理潜在的症状（p
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived utility, adequacy of consent, and potential harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs. More than 90% of parents reported feeling adequately informed to consent to diagnostic genomic sequencing. Despite only 23% (27) of 117 infants receiving genomic diagnoses, 97% (156) of 161 parents reported that testing was at least somewhat useful and 50.3% (88/161) reported no decisional regret (median 0, mean 10, range 0-100). Five of 117 families (4.3%) reported harm. Upon follow-up, one (1%) confirmed harm to child and parent related to negative results/no diagnosis, two (2%) reported stress or confusion, and two (2%) denied harm. In 81% (89) of 111 infants, families and clinicians agreed that genomic results were useful. Of the families for whom clinicians perceived harm from genomic testing, no parents reported harm. Positive tests/genomic diagnosis were more frequently perceived to be useful by parents, to benefit their infant, and to help manage potential symptoms (p