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
Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
J Pers Med. 2023 Jun 21;13(7):1026. doi: 10.3390/jpm13071026.
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.
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.
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.
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.
了解基因组测序（GS）在新生儿重症监护室（NICU）环境中对父母产生的广泛临床和非临床影响至关重要。我们评估了父母将GS作为NICU中疑似患有遗传疾病婴儿的一线诊断工具的体验。
作为SouthSeq研究的一部分，在美国东南部的五家医院招募了疑似患有遗传疾病的新生儿父母（N = 62）。在父母收到孩子的测序结果（阳性、阴性或意义未明的变异）后，进行了半结构化访谈（N = 78）。对所有访谈进行了主题分析。
关键主题包括：（1）婴儿期的GS对生殖决策、为孩子未来的护理做准备、结束诊断之旅以及与护理人员分享结果很重要；（2）尽管许多父母报告说NICU环境令人应接不暇，但大多数父母认为结果披露的时机是可以接受的；（3）父母否认在婴儿期收到GS结果会加剧亲子关系，并报告了对他们内疚感的不同影响。
父母报告说新生儿期的GS很有用，因为它为孩子的护理提供了一个“支柱”。父母并不一致认可诸如干扰亲子关系等负面影响。
