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.

中文翻译：

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快速急性护理基因组学：遗传咨询师的挑战和机遇

儿科急症护理中的基因组医学显示出巨大的前景，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。许多人认为快速急性护理基因组学提出了新的遗传咨询问题。这是因为需要对转诊做出快速反应，父母在孩子接受急诊护理时可能会经历巨大的情绪困扰，以及急诊护理环境的陌生环境。为了探索遗传咨询师在这种情况下的实践，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急症护理环境中提供遗传咨询的前线的大部分 GC。访谈揭示了描述急症护理中遗传咨询的主题，包括在快速周转时间内咨询的实际挑战、与其他环境（如产前咨询）的相似性以及对其他卫生专业人员的教育的必要性。有趣的是，GC 并没有在采访中对父母为快速基因组测序提供知情同意的能力表示担忧。在这种提供 24 小时护理的环境中，GC 还遇到了实际和组织上的咨询挑战，这与传统的“朝九晚五”遗传学服务交付不一致。在多学科团队中密切合作很常见，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 可以很好地在其他卫生专业人员的教育中发挥主导作用。尽管认为快速急诊基因组学中的遗传咨询实践是独一无二的，但这些探索性数据表明 GC 具有灵活性、适应性和技能，可以在这种情况下提供以患者为中心的咨询。我们的工作表明，GCs 已经准备好并愿意在急性护理中采用基因组研究的早期阶段做出贡献。