Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Eur J Hum Genet. 2022 Sep;30(9):1036-1043. doi: 10.1038/s41431-022-01140-8. Epub 2022 Jul 13.
Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delivering genomic results in an acute care setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid genomic diagnosis program. The impact of rGS on families was assessed through the PedsQL2.0 Family Impact Module and the State-Trait Anxiety Inventory (STAI-6). Sixty-one parents/carers completed the survey during the study period (response rate 48%; 61/128). Mean parent and family functioning was reduced in this sample, reflecting the stressful conditions facing families with critically unwell children. We found caregivers whose children had received a diagnostic result through rGS reported a reduced family relationships score compared to caregivers of children who did not receive a diagnosis. These findings have implications for genetic counselling practice in this setting.
快速基因组测序（rGS）在新生儿和儿科重症监护病房中被越来越多地使用。虽然有越来越多的临床效用和成本效益的证据，但人们对在急性护理环境中提供基因组结果的影响表示担忧。为了帮助调查这些担忧，我们分析了通过国家快速基因组诊断计划接受 rGS 的患儿的护理人员收集的调查数据。通过 PedsQL2.0 家庭影响模块和状态-特质焦虑量表（STAI-6）评估 rGS 对家庭的影响。在研究期间，有 61 位家长/照顾者完成了调查（应答率为 48%；61/128）。该样本中父母和家庭功能均降低，反映了患有重病儿童的家庭面临的紧张状况。我们发现，与未接受诊断的儿童的照顾者相比，其子女通过 rGS 获得诊断结果的照顾者的家庭关系评分降低。这些发现对该环境中的遗传咨询实践具有重要意义。
