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对于重症监护病房（ICU）的婴儿变得可行。但是，缺乏有关父母的感知效用，同意的充分性以及潜在的危害和益处的研究。本文中，我们报告了来自第二个基因组医学和公共卫生领域新生儿测序（NSIGHT2）研究的父母对这些域的调查结果，该研究是区域性ICU中婴儿快速诊断基因组测序的随机对照试验。超过90％的父母表示感觉足够了解同意诊断基因组测序。尽管117名接受基因组诊断的婴儿中只有23％（27），但161名父母中的97％（156）报告测试至少有所帮助，而50.3％（88/161）报告没有决定性的遗憾（中位数0，平均10，范围0-100）。117个家庭中有5个（4.3％）报告了伤害。随访后，一（1％）确认对儿童和父母的伤害与阴性结果/未诊断有关，两（2％）表示压力或精神混乱，两（2％）否认伤害。在111名婴儿中的81％（89）中，家庭和临床医生认为基因组结果是有用的。在临床医生认为他们因基因组测试而受到伤害的家庭中，没有父母报告有伤害。父母更经常认为阳性检测/基因组诊断对他们的婴儿有益，并有助于控制潜在的症状（p <.05）。总之，绝大多数父母认为，一级，快速，可诊断的基因组测序对缺乏ICU病因诊断的婴儿有益。在这项研究中，大多数父母都认为他们已经充分了解了同意，了解了孩子的结果，并且拒绝接受测序后悔或伤害。