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本文引用的文献

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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
Clin Genet. 2024 Jan;105(1):13-33. doi: 10.1111/cge.14446. Epub 2023 Nov 6.
2
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.危重症遗传疾病患者的快速基因组检测:澳大拉西亚人类遗传学学会立场声明。
Eur J Hum Genet. 2024 Feb;32(2):150-154. doi: 10.1038/s41431-023-01477-8. Epub 2023 Oct 20.
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Integrated multi-omics for rapid rare disease diagnosis on a national scale.基于一体化多组学的全国范围罕见病快速诊断
Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.
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Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context.快速基因组测序:新生儿重症监护环境下对新技术的同意
Pediatrics. 2022 Dec 1;150(6). doi: 10.1542/peds.2022-058222.
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Co-design, implementation, and evaluation of plain language genomic test reports.通俗易懂的基因组检测报告的协同设计、实施与评估。
NPJ Genom Med. 2022 Oct 22;7(1):61. doi: 10.1038/s41525-022-00332-x.
6
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.在重症监护中进行快速基因组测序后的遗传学随访:当前的服务提供实践和建议。
Eur J Hum Genet. 2022 Nov;30(11):1276-1282. doi: 10.1038/s41431-022-01168-w. Epub 2022 Aug 11.
7
Implementing genomics in the neonatal period: An assessment of parental decision making and anxiety.新生儿期实施基因组学:对父母决策与焦虑的评估
J Genet Couns. 2022 Dec;31(6):1306-1316. doi: 10.1002/jgc4.1605. Epub 2022 Jun 22.
8
Rapid genomic testing for critically ill children: time to become standard of care?危重症儿童的快速基因组检测:是时候成为标准治疗了吗?
Eur J Hum Genet. 2022 Feb;30(2):142-149. doi: 10.1038/s41431-021-00990-y. Epub 2021 Nov 8.
9
Parents' experiences of decision making for rapid genomic sequencing in intensive care.父母在重症监护中对快速基因组测序决策的体验。
Eur J Hum Genet. 2021 Dec;29(12):1804-1810. doi: 10.1038/s41431-021-00950-6. Epub 2021 Aug 23.
10
U.S. Genetic counselors' perceptions of inpatient genetic counseling: A valuable model for medically complex patients.美国遗传咨询师对住院患者遗传咨询的看法:为复杂医疗患者提供有价值的模式。
J Genet Couns. 2021 Dec;30(6):1683-1694. doi: 10.1002/jgc4.1435. Epub 2021 Jun 14.

危重症儿科患者的快速基因组检测:来自一项全国性项目的遗传咨询经验

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

作者信息

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

机构信息

Australian Genomics, Melbourne, Australia.

Sydney Children's Hospitals Network, Westmead, Sydney, Australia.

出版信息

Genet Med Open. 2024 Jul 23;2(Suppl 2):101878. doi: 10.1016/j.gimo.2024.101878. eCollection 2024.

DOI:10.1016/j.gimo.2024.101878
PMID:39712956
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11658312/
Abstract

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.

摘要

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。