Boggs Kirsten, Lynch Fiona, Ward Michelle, Bouffler Sophie E, Ayres Samantha, Forbes Robin, Springer Amanda, de Silva Michelle G, Lynch Elly, Gallacher Lyndon, Davis Tenielle, Rakonjac Ana, Stallard Kirsty, Brett Gemma R, Stark Zornitza
Australian Genomics, Melbourne, Australia.
Sydney Children's Hospitals Network, Westmead, Sydney, Australia.
Genet Med Open. 2024 Jul 23;2(Suppl 2):101878. doi: 10.1016/j.gimo.2024.101878. eCollection 2024.
Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice. Rapid genomic testing (rGT) is increasingly becoming standard of care in acute care. GCs are well placed to support families through the rGT process. Despite this, there is a lack of consistency in the provision of comprehensive acute care genetic counseling globally and a subsequent need for professional guidance in this area. The Acute Care Genomics study piloted a national approach to delivering rGT for infants and children admitted to intensive care units in Australia with suspected genetic conditions between 2018 and 2022. GCs from across Australia were involved in both pre- and post-test counseling for the families of these critically unwell children. Based on our collective experience of delivering this national rGT program, this article provides a discussion of common challenges for health professionals new to delivering rGT in intensive care. We share some practical solutions and make recommendations for supporting families in this area of practice.
遗传咨询师在急症护理环境中面临着独特的挑战。急症护理环境，如新生儿和儿科重症监护病房，具有紧迫性、复杂性和快速决策的特点。这些环境要求遗传咨询师在满足患者即时临床需求和向家庭提供全面遗传信息之间找到微妙的平衡，同时需要调整现有技能以适应实际工作。快速基因组检测（rGT）在急症护理中越来越成为标准治疗方法。遗传咨询师非常适合在rGT过程中为家庭提供支持。尽管如此，全球范围内在提供全面的急症护理遗传咨询方面缺乏一致性，因此在这一领域需要专业指导。“急症护理基因组学”研究在2018年至2022年期间试点了一种全国性方法，为澳大利亚重症监护病房中疑似患有遗传疾病的婴幼儿提供rGT。来自澳大利亚各地的遗传咨询师参与了这些病情危急儿童家庭的检测前和检测后咨询。基于我们实施这个全国性rGT项目的集体经验，本文讨论了重症监护中初次进行rGT的卫生专业人员面临的常见挑战。我们分享一些实际解决方案，并就这一实践领域中支持家庭的工作提出建议。
