Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.
School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.
Genet Med. 2020 Feb;22(2):416-422. doi: 10.1038/s41436-019-0644-5. Epub 2019 Aug 30.
In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to standard clinical evaluations of infants with suspected genetic disorders. This study aimed to understand parental response to the use of GS for their newborn babies.
Twenty-three of 128 parents whose infant had enrolled in the RCT completed a retrospective survey and interview addressing attitudes about GS and responses to receiving diagnostic information. We also collected information about participants' genetic literacy, genetic knowledge, numeracy, and symptoms of anxiety and depression.
The majority reported positive (13; 56.5%) or neutral 4 (4; 17.4%) feelings when approached about GS for their infant and 100% felt that GS was generally beneficial. The 12 participants who had received a unifying diagnosis for their child's symptoms described personal utility of the information. Some reported the diagnosis led to changes in medical care. Participants showed understanding of some of the psychological risks of GS. For example, 21 (91.3%) agreed or strongly agreed that genetic testing could reveal disturbing results.
Parents who enrolled their newborn in a RCT of GS demonstrated awareness of a psychological risk, but generally held positive beliefs about GS and perceived the benefits outweighed the risk.
2014 年，我们机构启动了一项随机对照试验（RCT），比较快速基因组测序（GS）与疑似遗传疾病婴儿的标准临床评估。本研究旨在了解父母对新生儿使用 GS 的反应。
在 RCT 中，128 名婴儿中有 23 名父母完成了一项回顾性调查和访谈，调查他们对 GS 的态度以及对接受诊断信息的反应。我们还收集了参与者的遗传素养、遗传知识、计算能力以及焦虑和抑郁症状的信息。
当被问及是否对婴儿进行 GS 时，大多数人表示积极（13；56.5%）或中立（4；17.4%），并认为 GS 总体上是有益的。12 名参与者对其孩子症状的统一诊断描述了信息的个人效用。一些人报告说诊断导致医疗保健的改变。参与者对 GS 的一些心理风险有一定的了解。例如，21 名（91.3%）参与者同意或强烈同意基因测试可能会揭示令人不安的结果。
参加新生儿 GS RCT 的父母意识到存在心理风险，但普遍对 GS 持有积极的信念，并认为其益处大于风险。
