Krabbenborg L, Schieving J, Kleefstra T, Vissers L E L M, Willemsen M A, Veltman J A, van der Burg S
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Clin Genet. 2016 Feb;89(2):244-50. doi: 10.1111/cge.12601. Epub 2015 May 21.
As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient experiences and preferences with regard to counselling are relatively underexplored. This article explores experiences and preferences of parents with pre-test and post-test counselling in a trial that uses WES for diagnostics. Second, it maps information and communication needs which exceed the counselling protocol, in order to acquire insight into how it can be improved. Data were gathered through in-depth interviews with parents of 15 children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to (i) the type and amount of information provided about WES research, (ii) incidental findings, (iii) communication about progress of the study, and (iv) the communication of the results. Furthermore, parents preferred to have more of a communicative exchange with health care providers about their daily struggles and concerns related to their life with a diseased child and wanted to know how a diagnosis could offer help. There are different ways to meet parental needs, but we suggest that assigning a case manager might be a helpful option that deserves further exploration.
由于全外显子组测序（WES）刚刚开始在儿科神经病学中用作诊断患有神经系统疾病儿童的工具，因此关于咨询方面患者的经历和偏好相对较少被探索。本文探讨了在一项使用WES进行诊断的试验中，父母在测试前和测试后咨询方面的经历和偏好。其次，它梳理了超出咨询方案的信息和沟通需求，以便深入了解如何改进该方案。通过对纳入该试验的15名儿童的父母进行深入访谈收集数据。父母的信息和沟通需求在以下方面与方案不同：（i）提供的关于WES研究的信息类型和数量；（ii）偶然发现；（iii）关于研究进展的沟通；（iv）结果的沟通。此外，父母更希望与医疗保健提供者就他们与患病孩子生活中的日常困难和担忧进行更多的交流，并想知道诊断如何提供帮助。满足父母需求有不同的方法，但我们建议指定一名个案管理员可能是一个值得进一步探索的有益选择。
