Piers Lauren, Wainstein Tasha, Pelligra Gustavo, Osiovich Horacio, Elliott Alison M
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
Children (Basel). 2024 Jul 28;11(8):910. doi: 10.3390/children11080910.
BACKGROUND/OBJECTIVES: Rapid genome-wide sequencing (rGWS) continues to transform the care provided to infants with genetic conditions in neonatal intensive care units (NICUs). Previous research has demonstrated that rGWS has immense benefits on patient care; however, little is known about non-genetic healthcare providers' (HCPs) experiences and perspectives of working with rGWS and supporting families through the rGWS testing process in Canadian NICU facilities. To address this gap, we surveyed and conducted semi-structured interviews with non-genetic HCPs of diverse professions from NICUs in British Columbia.
An interpretive description approach was used to analyze interview transcripts to identify patterns and variations in non-genetic HCPs' experiences and perceptions with rGWS.
Participants had varying degrees of exposure to rGWS and levels of comfort with the testing process. Numerous barriers affecting the implementation of rGWS were identified, including low levels of comprehension of rGWS, longer turn-around times than expected, and having to apply for provincial government approval to access testing. Participants desired more education on rGWS, clear guidelines on the use of rGWS in NICUs, and resources for non-genetic HCPs and parents to support implementation.
The results from this study can inform the development of workflows and educational resources on the use of rGWS in NICUs, helping to ensure that the NICU team is supported to optimize rGWS implementation.
背景/目的：快速全基因组测序（rGWS）持续改变着新生儿重症监护病房（NICU）为患有遗传疾病的婴儿提供的护理。先前的研究表明，rGWS对患者护理有巨大益处；然而，对于加拿大NICU机构中非遗传医疗服务提供者（HCP）在使用rGWS以及在rGWS检测过程中支持家庭方面的经历和观点却知之甚少。为填补这一空白，我们对不列颠哥伦比亚省NICU中不同专业的非遗传HCP进行了调查并开展了半结构化访谈。
采用解释性描述方法分析访谈记录，以确定非遗传HCP在rGWS方面的经历和认知模式及差异。
参与者对rGWS的接触程度不同，对检测过程的舒适度也不同。确定了影响rGWS实施的诸多障碍，包括对rGWS的理解程度低、周转时间比预期长以及必须申请省政府批准才能进行检测。参与者希望获得更多关于rGWS的教育、NICU中使用rGWS的明确指南以及为非遗传HCP和家长提供支持实施的资源。
本研究结果可为NICU中使用rGWS的工作流程和教育资源的开发提供参考，有助于确保NICU团队得到支持以优化rGWS的实施。
