Watnick Dana, Odgis Jacqueline A, Suckiel Sabrina A, Gallagher Katie M, Teitelman Nehama, Donohue Katherine E, Gelb Bruce D, Kenny Eimear E, Wasserstein Melissa P, Horowitz Carol R, Dolan Siobhan M, Bauman Laurie J
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
HGG Adv. 2021 Apr 8;2(2). doi: 10.1016/j.xhgg.2021.100027. Epub 2021 Feb 3.
Genetic counselors are trained to deliver complicated genomic test results to parents of pediatric patients. However, there is limited knowledge on how parents perceive this information and what they understand about the results. This research aims to qualitatively explore parents' experiences receiving genomic test results for their children. As part of formative research for the NYCKidSeq Study, we recruited a purposive sample of parents of 22 children stratified by child race/ethnicity and test result classification (positive, uncertain, or negative) and conducted in-depth interviews using a semi-structured guide. Analysis was conducted using grounded theory's constant comparative method across cases and themes. Parents described different elements of understanding: genetics knowledge; significance and meaning of positive, uncertain, or negative results; and implications for the health of their child and family. Parents reported challenges understanding technical details and significance of their child's results but gladly allowed their providers to be custodians of this information. However, of the different elements of understanding described, parents cared most deeply about being able to understand implications for their child's and family's health. These findings suggest that a counseling approach that primarily addresses parents' desire to understand how to best care for their child and family may be more appropriate than an information-heavy approach focused on technical details. Further research is warranted to confirm these findings in larger parent cohorts and to explore ways genetic counseling can support parents' preferences without sacrificing important components of parent understanding and overall satisfaction with their experiences with genomic medicine.
遗传咨询师经过培训,能够向儿科患者的父母传达复杂的基因组检测结果。然而,对于父母如何看待这些信息以及他们对检测结果的理解程度,我们了解得还很有限。本研究旨在定性探索父母接收其子女基因组检测结果的经历。作为纽约儿童测序研究(NYCKidSeq Study)的形成性研究的一部分,我们按照孩子的种族/族裔和检测结果分类(阳性、不确定或阴性),有目的地选取了22名儿童的父母作为样本,并使用半结构化指南进行了深入访谈。分析采用扎根理论的恒定比较法,针对案例和主题展开。父母描述了理解的不同方面:遗传学知识;阳性、不确定或阴性结果的意义;以及对其子女和家庭健康的影响。父母表示在理解孩子检测结果的技术细节和意义方面存在困难,但欣然允许医疗服务提供者保管这些信息。然而,在所描述的理解的不同方面中,父母最关心的是能否理解对其子女和家庭健康的影响。这些发现表明,一种主要满足父母了解如何最好地照顾子女和家庭愿望的咨询方法,可能比侧重于技术细节的信息密集型方法更为合适。有必要进行进一步研究,以在更大规模的父母群体中证实这些发现,并探索遗传咨询如何在不牺牲父母理解的重要组成部分以及对基因组医学体验的总体满意度的情况下,支持父母的偏好。