Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
J Genet Couns. 2022 Feb;31(1):218-229. doi: 10.1002/jgc4.1475. Epub 2021 Jul 26.
Much emphasis has been placed on participant's psychological safety within genomic research studies; however, few studies have addressed parental psychological health effects associated with their child's participation in genomic studies, particularly when parents meet the threshold for clinical concern for depression. We aimed to determine if parents' depressive symptoms were associated with their child's participation in a randomized-controlled trial of newborn exome sequencing. Parents completed the Edinburgh Postnatal Depression Scale (EPDS) at baseline, immediately post-disclosure, and 3 months post-disclosure. Mothers and fathers scoring at or above thresholds for clinical concern on the EPDS, 12 and 10, respectively, indicating possible Major Depressive Disorder with Peripartum Onset, were contacted by study staff for mental health screening. Parental concerns identified in follow-up conversations were coded for themes. Forty-five parents had EPDS scores above the clinical threshold at baseline, which decreased by an average of 2.9 points immediately post-disclosure and another 1.1 points 3 months post-disclosure (both p ≤ .014). For 28 parents, EPDS scores were below the threshold for clinical concern at baseline, increased by an average of 4.7 points into the elevated range immediately post-disclosure, and decreased by 3.8 points at 3 months post-disclosure (both p < .001). Nine parents scored above thresholds only at 3 months post-disclosure after increasing an average of 5.7 points from immediately post-disclosure (p < .001). Of the 82 parents who scored above the threshold at any time point, 43 (52.4%) were reached and 30 (69.7%) of these 43 parents attributed their elevated scores to parenting stress, balancing work and family responsibilities, and/or child health concerns. Only three parents (7.0%) raised concerns about their participation in the trial, particularly their randomization to the control arm. Elevated scores on the EPDS were typically transient and parents attributed their symptomatology to life stressors in the postpartum period rather than participation in a trial of newborn exome sequencing.
人们非常重视基因组研究中参与者的心理安全感；然而，很少有研究探讨与父母心理健康相关的问题，特别是当父母的抑郁症状达到临床关注的阈值时。我们旨在确定父母的抑郁症状是否与他们的孩子参与新生儿外显子组测序的随机对照试验有关。父母在基线、披露后立即和披露后 3 个月时完成了爱丁堡产后抑郁量表（EPDS）。母亲和父亲的 EPDS 评分分别为 12 分和 10 分（表明可能存在围产期发病的重度抑郁症）或以上，研究人员会联系他们进行心理健康筛查。在随访对话中确定的父母关注点被编码为主题。45 名父母在基线时 EPDS 评分高于临床阈值，披露后立即平均下降 2.9 分，披露后 3 个月时又下降 1.1 分（均 p ≤.014）。对于 28 名父母，基线时 EPDS 评分低于临床关注阈值，披露后立即平均增加 4.7 分进入升高范围，披露后 3 个月时又降低 3.8 分（均 p <.001）。9 名父母仅在披露后 3 个月时评分高于阈值，从披露后立即增加了平均 5.7 分（p <.001）。在任何时间点评分高于阈值的 82 名父母中，有 43 名（52.4%）被联系到，其中 30 名（69.7%）的父母将他们的高分归因于育儿压力、平衡工作和家庭责任以及/或孩子的健康问题。只有 3 名父母（7.0%）对他们参与试验表示担忧，特别是对他们被随机分配到对照组表示担忧。EPDS 评分升高通常是短暂的，父母将其症状归因于产后生活压力源，而不是参与新生儿外显子组测序试验。
