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围产期母亲对基因组新生儿筛查的认知

Perception of genomic newborn screening among peripartum mothers.

作者信息

Prosenc Bernarda, Cizek Sajko Mojca, Kavsek Gorazd, Herzog Marusa, Peterlin Borut

机构信息

Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.

Faculty of Health Sciences, University of Novo mesto, Novo mesto, Slovenia.

出版信息

Eur J Hum Genet. 2024 Feb;32(2):163-170. doi: 10.1038/s41431-023-01497-4. Epub 2023 Dec 19.

Abstract

Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening (gNBS). However, before the implementation of gNBS, it is crucial to address various aspects, including parental attitudes, at the national level. With this aim, we analyzed the attitudes and expectations of Slovenian peripartum mothers regarding gNBS and the acceptability of its implementation into the Slovenian health system. A questionnaire-based study was conducted on a convenience sample of 1136 peripartum mothers (a response rate of 84.1%) in a hospital setting in Slovenia. We measured participants' level of general genetic knowledge, motivation to undergo gNBS, attitude toward its benefits and drawbacks, willingness to participate financially, and factors that would influence their decision to undergo gNBS. Most participants exhibited a positive attitude (83.2%) and were motivated to undertake gNBS (63.4%). They were willing to share genetic data and also contribute to the testing costs. Mothers with better genetic literacy and higher education level, and those with the familial genetic testing experiences were more supportive of gNBS. However, several emotional and socio-ethical concerns were raised regarding how the genetic information would influence family and social life.

摘要

基因组技术的进步为将新生儿筛查从传统程序扩展到基因组新生儿筛查(gNBS)创造了可能性。然而,在实施gNBS之前,在国家层面解决包括父母态度在内的各个方面至关重要。为此,我们分析了斯洛文尼亚围产期母亲对gNBS的态度和期望,以及将其纳入斯洛文尼亚卫生系统的可接受性。在斯洛文尼亚的一家医院,对1136名围产期母亲的便利样本进行了一项基于问卷的研究(回复率为84.1%)。我们测量了参与者的一般遗传知识水平、接受gNBS的动机、对其利弊的态度、经济上参与的意愿以及会影响她们接受gNBS决定的因素。大多数参与者表现出积极态度(83.2%),并有接受gNBS的动机(63.4%)。她们愿意分享遗传数据并承担检测费用。遗传素养较高、教育水平较高以及有家族基因检测经历的母亲对gNBS更支持。然而,对于遗传信息将如何影响家庭和社会生活,人们提出了一些情感和社会伦理方面的担忧。

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Perception of genomic newborn screening among peripartum mothers.围产期母亲对基因组新生儿筛查的认知
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