Parents' perceptions of personal utility of exome sequencing results
Parents' perceptions of personal utility of exome sequencing results
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DOI：
10.1038/s41436-019-0730-8
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发表时间：
2020-04-01
影响因子：
8.8
通讯作者：
Skinner, Debra
中科院分区：
文献类型：
--
作者：
Mollison, Lonna;O'Daniel, Julianne M.;Skinner, Debra
临床基因组或外显子组测序（GS/ES）为许多疑似遗传性疾病的个体提供了诊断，但对大多数人来说也会产生阴性或不确定的结果。本研究探讨了父母如何与一个未确诊的条件属性的儿童个人效用的所有类型的ES结果。方法在门诊期间观察31个外显子组测序结果的返回，然后在一个月后与父母进行半结构式访谈。对观察和访谈进行了记录和转录。数据显示矩阵用于内容分析和系统比较父母的效用的看法。结果ES结果不能提供所有家长问题的答案，特别是在临床上没有信息的结果的情况下，但家长仍然认为有用的知识。所有结果类别的父母都使用基因组信息来排除可能的原因，结束或推迟诊断过程，并将重点转移到症状的治疗和管理上。结论本研究表明，父母价值，即使是没有信息ES结果，同时表示希望未来的发现。随着儿科遗传学向GS/ES作为第一层测试的方向发展，父母如何看待阴性或不确定结果的个人效用是遗传咨询和进一步研究的重要课题。
Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child with an undiagnosed condition attribute personal utility to all types of ES results. Methods Return of 31 exome sequencing results was observed during clinic sessions, followed by semistructured interviews with parents one month later. Observations and interviews were recorded and transcribed. Data display matrices were used for content analysis and systematic comparisons of parents' perceptions of utility. Results ES results could not provide all the answers to parents' questions, especially in cases of clinically uninformative results, but parents nonetheless attributed utility to the knowledge gained. Parents across all results categories used the genomic information to rule out possible causes, end or postpone the diagnostic odyssey, and shift focus to treatment and management of symptoms. Conclusion This study suggests that parents value even uninformative ES results while expressing hope for future discoveries. As pediatric genetics moves toward GS/ES as a first-tier test, how parents perceive the personal utility of negative or uncertain results is an important topic for genetic counseling and further research.