Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
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DOI：
10.3390/jpm13071026
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发表时间：
2023-06-21
影响因子：
--
通讯作者：
Brothers, Kyle B.
中科院分区：
文献类型：
--
作者：
Lemke, Amy A.;Thompson, Michelle L.;Gimpel, Emily C.;McNamara, Katelyn C.;Rich, Carla A.;Finnila, Candice R.;Cochran, Meagan E.;Lawlor, James M. J.;East, Kelly M.;Bowling, Kevin M.;Latner, Donald R.;Hiatt, Susan M.;Amaral, Michelle D.;Kelley, Whitley V.;Greve, Veronica;Gray, David E.;Felker, Stephanie A.;Meddaugh, Hannah;Cannon, Ashley;Luedecke, Amanda;Jackson, Kelly E.;Hendon, Laura G.;Janani, Hillary M.;Johnston, Marla;Merin, Lee Ann;Deans, Sarah L.;Tuura, Carly;Hughes, Trent;Williams, Heather;Laborde, Kelly;Neu, Matthew B.;Patrick-Esteve, Jessica;Hurst, Anna C. E.;Kirmse, Brian M.;Savich, Renate;Spedale, Steven B.;Knight, Sara J.;Barsh, Gregory S.;Korf, Bruce R.;Cooper, Gregory M.;Brothers, Kyle B.
背景：了解基因组测序 (GS) 对 NICU 中父母的广泛临床和非临床影响至关重要。我们评估了家长使用 GS 作为 NICU 疑似遗传性疾病婴儿的一线诊断工具的经验。方法：作为 SouthSeq 研究的一部分，在美国东南部五家医院招募了疑似患有遗传性疾病的新生儿（N = 62）的父母。家长收到孩子的测序结果（阳性、阴性或意义不明的变异）后进行半结构化访谈（N = 78）。对所有访谈进行了主题分析。结果：关键主题包括：(1) 婴儿期 GS 对于生殖决策、为孩子未来的护理做好准备、结束诊断过程以及与护理提供者分享结果非常重要； (2) 大多数家长可以接受披露的时机，尽管许多家长报告新生儿重症监护病房的环境令人难以承受； (3) 父母否认在婴儿期收到 GS 结果会加剧亲子关系，并报告对他们的内疚感产生不同的影响。结论：家长报告说，新生儿期 GS 很有用，因为它为孩子的护理提供了“支柱”。父母并不总是认可干扰亲子关系等负面影响。
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. Methods: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child’s sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. Results: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child’s future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent–infant bonding, and reported variable impact on their feelings of guilt. Conclusion: Parents reported that GS during the neonatal period was useful because it provided a “backbone” for their child’s care. Parents did not consistently endorse negative impacts like interference with parent–infant bonding.
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