Importance Newborn genomic sequencing (nGS) may provide health benefits throughout the life span, but there are concerns that it could also have an unfavorable (ie, negative) psychosocial effect on families. Objective To assess the psychosocial effect of nGS on families from the BabySeq Project, a randomized clinical trial evaluating the effect of nGS on the clinical care of newborns from well-baby nurseries and intensive care units. Design, Setting, and Participants In this randomized clinical trial conducted from May 14, 2015, to May 21, 2019, at well-baby nurseries and intensive care units at 3 Boston, Massachusetts, area hospitals, 519 parents of 325 infants completed surveys at enrollment, immediately after disclosure of nGS results, and 3 and 10 months after results disclosure. Statistical analysis was performed on a per-protocol basis from January 16, 2019, to December 1, 2019. Intervention Newborns were randomized to receive either standard newborn screening and a family history report (control group) or the same plus an nGS report of childhood-onset conditions and highly actionable adult-onset conditions (nGS group). Main Outcomes and Measures Mean responses were compared between groups and, within the nGS group, between parents of children who received a monogenic disease risk finding and those who did not in 3 domains of psychosocial impact: parent-child relationship (Mother-to-Infant Bonding Scale), parents' relationship (Kansas Marital Satisfaction Scale), and parents' psychological distress (Edinburgh Postnatal Depression Scale anxiety subscale). Results A total of 519 parents (275 women [53.0%]; mean [SD] age, 35.1 [4.5] years) were included in this study. Although mean scores differed for some outcomes at singular time points, generalized estimating equations models did not show meaningful differences in parent-child relationship (between-group difference in adjusted mean [SE] Mother-to-Infant Bonding Scale scores: postdisclosure, 0.04 [0.15]; 3 months, -0.18 [0.18]; 10 months, -0.07 [0.20]; joint P = .57) or parents' psychological distress (between-group ratio of adjusted mean [SE] Edinburgh Postnatal Depression Scale anxiety subscale scores: postdisclosure, 1.04 [0.08]; 3 months, 1.07 [0.11]; joint P = .80) response patterns between study groups over time for any measures analyzed in these 2 domains. Response patterns on one parents' relationship measure differed between groups over time (between-group difference in adjusted mean [SE] Kansas Marital Satisfaction Scale scores: postdisclosure, -0.19 [0.07]; 3 months, -0.04 [0.07]; and 10 months, -0.01 [0.08]; joint P = .02), but the effect decreased over time and no difference was observed on the conflict measure responses over time. We found no evidence of persistent negative psychosocial effect in any domain. Conclusions and Relevance In this randomized clinical trial of nGS, there was no persistent negative psychosocial effect on families among those who received nGS nor among those who received a monogenic disease risk finding for their infant. Trial Registration ClinicalTrials.gov Identifier: NCT02422511.

中文翻译：

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BabySeq 项目中新生儿基因组测序对家庭的心理社会影响：一项随机临床试验。

重要性 新生儿基因组测序 (nGS) 可能会在整个生命周期内提供健康益处，但有人担心它也可能对家庭产生不利（即负面）的心理社会影响。目的 从 BabySeq 项目评估 nGS 对家庭的心理社会影响，该项目是一项随机临床试验，评估 nGS 对来自健康婴儿托儿所和重症监护病房的新生儿的临床护理效果。设计、地点和参与者 在这项于 2015 年 5 月 14 日至 2019 年 5 月 21 日期间在马萨诸塞州波士顿 3 家地区医院的婴儿护理室和重症监护室进行的随机临床试验中，共有 325 名婴儿的 519 名父母完成了调查。 nGS 结果披露后立即注册，结果披露后 3 个月和 10 个月。从 2019 年 1 月 16 日到 2019 年 12 月 1 日，按方案进行了统计分析。干预 新生儿被随机分配接受标准新生儿筛查和家族史报告（对照组）或相同加上 nGS 童年报告-发病条件和高度可操作的成人发病条件（nGS 组）。主要结果和措施 比较了各组之间以及在 nGS 组内接受单基因疾病风险发现的儿童的父母与未接受单基因疾病风险发现的儿童的父母之间的平均反应，在心理社会影响的 3 个领域：亲子关系（母婴关系）亲情量表）、父母关系（堪萨斯婚姻满意度量表）和父母心理困扰（爱丁堡产后抑郁量表焦虑分量表）。结果共有519名父母（275名女性[53.0%]；本研究包括平均 [SD] 年龄，35.1 [4.5] 岁）。尽管在奇异时间点，某些结果的平均得分不同，但广义估计方程模型并未显示出亲子关系的有意义差异（调整后的组间差异 [SE] 母婴结合量表得分：披露后，0.04 [ 0.15]；3 个月，-0.18 [0.18]；10 个月，-0.07 [0.20]；联合 P = .57）或父母的心理困扰（调整后的组间比值 [SE] 爱丁堡产后抑郁量表焦虑分量表得分: 披露后, 1.04 [0.08]; 3 个月, 1.07 [0.11]; 联合 P = .80) 研究组之间随时间推移对这两个领域中分析的任何措施的反应模式。一位家长的反应模式 随着时间的推移，各组之间的关系测量有所不同（调整后的组间差异 [SE] 堪萨斯婚姻满意度量表得分：披露后，-0.19 [0.07]；3 个月，-0.04 [0.07]；和 10 个月，-0.01 [0.08] ; 联合 P = .02)，但效果随着时间的推移而降低，并且随着时间的推移，冲突测量响应没有观察到差异。我们在任何领域都没有发现持续的负面心理社会影响的证据。结论和相关性 在这项关于 nGS 的随机临床试验中，在接受 nGS 的患者和接受婴儿单基因疾病风险发现的患者中，对家庭没有持续的负面心理社会影响。试验注册 ClinicalTrials.gov 标识符：NCT02422511。-0.01 [0.08]；联合 P = .02），但随着时间的推移，效果会下降，并且随着时间的推移，冲突测量响应没有观察到差异。我们在任何领域都没有发现持续的负面心理社会影响的证据。结论和相关性 在这项关于 nGS 的随机临床试验中，在接受 nGS 的患者和接受婴儿单基因疾病风险发现的患者中，对家庭没有持续的负面心理社会影响。试验注册 ClinicalTrials.gov 标识符：NCT02422511。-0.01 [0.08]；联合 P = .02），但随着时间的推移，效果会下降，并且随着时间的推移，冲突测量响应没有观察到差异。我们在任何领域都没有发现持续的负面心理社会影响的证据。结论和相关性 在这项关于 nGS 的随机临床试验中，在接受 nGS 的患者和接受婴儿单基因疾病风险发现的患者中，对家庭没有持续的负面心理社会影响。试验注册 ClinicalTrials.gov 标识符：NCT02422511。在接受 nGS 的人或接受婴儿单基因疾病风险发现的人中，对家庭没有持续的负面心理社会影响。试验注册 ClinicalTrials.gov 标识符：NCT02422511。在接受 nGS 的人或接受婴儿单基因疾病风险发现的人中，对家庭没有持续的负面心理社会影响。试验注册 ClinicalTrials.gov 标识符：NCT02422511。