Australian Genomics Health Alliance, Melbourne, Vic., Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, Vic., Australia.
J Genet Couns. 2021 Feb;30(1):30-41. doi: 10.1002/jgc4.1362. Epub 2020 Nov 25.
Genomic medicine in pediatric acute care is showing great promise, with rapid results from exome and genome sequencing returned within days providing critically important information for treatment and management of seriously ill children. Many have suggested that rapid acute care genomics presents novel genetic counseling issues. This is due to the need for rapid response to referrals, the immense emotional distress that parents are likely to experience when their child is in acute care, and the unfamiliar environment of the acute care setting. To explore the practice of genetic counselors in this setting, we conducted qualitative interviews with 16 genetic counselors (GCs), representing a large proportion of GCs at the frontline of providing genetic counseling in acute care settings in Australia. Interviews revealed themes describing genetic counseling in acute care, including practical challenges of counseling within a rapid turnaround time, similarities with other contexts such as prenatal counseling, and the need for education of other health professionals. Interestingly, GCs did not raise concerns in the interviews for parents' ability to provide informed consent for rapid genomic sequencing. GCs also encountered practical and organizational challenges with counseling in this setting where 24-hr care is provided, at odds with traditional '9 to 5' Genetics service delivery. Working closely in a multidisciplinary team was common and participants believed that GCs are well positioned to take a leading role in the education of other health professionals as rapid acute care genomics becomes routine clinical practice. Despite views that genetic counseling practice in rapid acute care genomics is unique, these exploratory data suggest that GCs are flexible, adaptable, and sufficiently skilled to deliver patient-centered counseling in this setting. Our work indicates GCs are ready and willing to contribute at an early stage of adoption of genomic investigations in acute care.
儿科急症中的基因组医学展现出巨大的潜力,外显子组和基因组测序的快速结果在几天内返回,为重病儿童的治疗和管理提供了至关重要的信息。许多人认为,快速的急性护理基因组学带来了新的遗传咨询问题。这是因为需要对转介做出快速反应,当孩子在急性护理中时,父母很可能会经历巨大的情绪困扰,以及急性护理环境的陌生感。为了探讨遗传咨询师在这种环境下的实践,我们对 16 名遗传咨询师(GC)进行了定性访谈,这些遗传咨询师代表了澳大利亚提供急性护理遗传咨询服务的一线遗传咨询师中的很大一部分。访谈揭示了描述急性护理中遗传咨询的主题,包括在快速周转时间内进行咨询的实际挑战、与其他环境(如产前咨询)的相似之处,以及对其他卫生专业人员进行教育的需求。有趣的是,GC 在访谈中并没有对父母为快速基因组测序提供知情同意的能力表示担忧。GC 在这种 24 小时提供护理的环境中进行咨询也遇到了实际和组织上的挑战,这与传统的“9 到 5”遗传学服务提供方式相悖。密切的多学科团队合作很常见,参与者认为,随着快速急性护理基因组学成为常规临床实践,GC 处于有利地位,可以在教育其他卫生专业人员方面发挥主导作用。尽管有人认为快速急性护理基因组学中的遗传咨询实践是独特的,但这些探索性数据表明,GC 具有灵活性、适应性和足够的技能,可以在这种环境中提供以患者为中心的咨询。我们的工作表明,GC 已经准备好并愿意在急性护理中采用基因组学调查的早期阶段做出贡献。