Department of Family Medicine and Public Health, University of California San Diego, San Diego, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA; San Diego State University, School of Public Health, San Diego, CA 92182, USA.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.
Am J Hum Genet. 2020 Nov 5;107(5):953-962. doi: 10.1016/j.ajhg.2020.10.004.
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 < .05). In summary, the large majority of parents felt that first-tier, rapid, diagnostic genomic sequencing was beneficial for infants lacking etiologic diagnoses in ICUs. Most parents in this study perceived being adequately informed to consent, understood their child's results, and denied regret or harm from undergoing sequencing.
快速诊断基因组测序最近已可用于重症监护病房（ICU）中的婴儿。然而，关于父母感知的效用、同意的充分性，以及潜在的危害和益处的研究还很缺乏。在此，我们报告了第二项新生儿测序在基因组医学和公共卫生（NSIGHT2）研究中这些领域的父母调查结果，该研究是一项对区域性 ICU 中婴儿进行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，他们感到自己有足够的信息来同意进行诊断性基因组测序。尽管只有 23%（27 个）的 117 个婴儿接受了基因组诊断，但 97%（156 个）的 161 个父母报告说，检测至少在某种程度上有用，50.3%（88/161）的父母报告说没有决策后悔（中位数为 0，均值为 10，范围为 0-100）。117 个家庭中有 5 个（4.3%）报告了伤害。随访时，有 1 个（1%）家庭确认与阴性结果/无诊断相关的对孩子和父母造成了伤害，2 个（2%）报告了压力或困惑，2 个（2%）否认了伤害。在 81%（111 个）的婴儿中，家庭和临床医生都认为基因组结果有用。在临床医生认为基因组检测有危害的家庭中，没有父母报告受到了伤害。父母认为阳性检测/基因组诊断更常有助于他们的婴儿，并有助于管理潜在症状（p<.05）。总之，绝大多数父母认为，对在 ICU 中缺乏病因诊断的婴儿进行一线、快速、诊断性基因组测序是有益的。本研究中的大多数父母都认为自己有足够的信息来同意，理解了孩子的结果，并否认进行测序带来了后悔或伤害。
