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医疗保健专业人员对儿科急性护理中快速全基因组测序的态度。

Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.

作者信息

Franck Linda S, Scheurer-Monaghan Andrea, Bupp Caleb P, Fakhoury Joseph D, Hoffmann Thomas J, Deshpandey Manasi, Arenchild Madison, Dimmock David P

机构信息

Department of Family Health Care Nursing, University of California, San Francisco, CA 94143, USA.

Neonatal Intensive Care, Bronson Children's Hospital, Kalamazoo, MI 49007, USA.

出版信息

Children (Basel). 2022 Mar 4;9(3):357. doi: 10.3390/children9030357.

DOI:10.3390/children9030357
PMID:35327729
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8947383/
Abstract

We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neonates and children up to 18 years of age meeting clinical criteria for testing. We surveyed 307 healthcare professionals from eight hospitals about their knowledge and attitudes regarding rWGS. We examined survey internal reliability using exploratory factor analysis and associations between respondent characteristics and attitudes toward rWGS with linear regression. We thematically analyzed free-text responses. Views about rWGS implementation in respondents' own setting and respondents' personal capability to implement rWGS were generally neutral (M = 3.44 (SD = 0.74); M = 3.30 (SD = 0.85), respectively). Views about the potential for rWGS in clinical practice were overall positive (M = 4.12 (SD = 0.57)). The degree of positivity of attitudes about rWGS was strongly influenced by perceived knowledge, clinical or non-clinical role, concerns about future insurance coverage for rWGS as a first-tier test, and future adverse impact of genomics health information on patients or families. We identified several actionable factors influencing attitudes toward rWGS of pediatric healthcare professionals. Expanded education and ongoing implementation research are needed for the full potential of rWGS in pediatrics to be realized.

摘要

我们旨在描述参与一项全州范围内倡议的医院中广泛的医疗保健专业人员群体对快速全基因组测序(rWGS)实施的知识和态度。该倡议旨在对符合检测临床标准的住院新生儿和18岁以下儿童实施rWGS。我们对来自八家医院的307名医疗保健专业人员进行了调查,了解他们对rWGS的知识和态度。我们使用探索性因素分析检查了调查的内部可靠性,并通过线性回归分析了受访者特征与对rWGS态度之间的关联。我们对自由文本回复进行了主题分析。受访者对在自己所在机构实施rWGS的看法以及实施rWGS的个人能力总体上呈中性(分别为M = 3.44(标准差 = 0.74);M = 3.30(标准差 = 0.85))。对rWGS在临床实践中的潜力的看法总体上是积极的(M = 4.12(标准差 = 0.57))。对rWGS态度的积极程度受到感知知识、临床或非临床角色、对rWGS作为一线检测未来保险覆盖范围的担忧以及基因组健康信息对患者或家庭未来不利影响的强烈影响。我们确定了几个影响儿科医疗保健专业人员对rWGS态度的可采取行动的因素。要实现rWGS在儿科的全部潜力,需要扩大教育并持续进行实施研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a19/8947383/fc09e2be4241/children-09-00357-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a19/8947383/fc09e2be4241/children-09-00357-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a19/8947383/fc09e2be4241/children-09-00357-g001.jpg

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JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496.
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Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States.利用快速基因组测序改变美国社区医院儿科患者的护理计划。
J Pediatr. 2021 Dec;239:235-239. doi: 10.1016/j.jpeds.2021.08.010. Epub 2021 Aug 12.
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
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