Suppr超能文献

医疗保健专业人员在扩大无创产前筛查方面的经验:挑战与解决方案。

Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.

作者信息

Claesen-Bengtson Zoë, van der Meij Karuna R M, Vermeesch Joris R, Henneman Lidewij, Borry Pascal

机构信息

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands.

出版信息

J Community Genet. 2025 Feb;16(1):91-103. doi: 10.1007/s12687-024-00751-6. Epub 2024 Dec 21.

Abstract

Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice. We assessed experiences of 31 healthcare professionals including clinical geneticists, gynecologists, midwives, counselors, and laboratory specialists, in Belgium where NIPT is publicly reimbursed. The interviews were analyzed inductively and iteratively. Key challenges to expanded NIPT were identified and structured under three headings: (1) Pre-test information provision: The more is tested for, the more complex the information provision becomes; (2) Return of results: Knowing more might be worse than knowing less; and (3) Hurdles that complicate setting a (nation-wide) scope. Solutions mentioned included providing additional resources for counseling, implementing value-based counseling, and a uniform scope of NIPT. To minimize potential harms and to retain trust of NIPT-users, it is crucial that best practices for counseling and reporting results are more substantiated. Sustainable lines of communication should be developed across stakeholder groups to navigate transparent implementation of technological developments in prenatal genetic screening.

摘要

全基因组无创产前游离DNA筛查(NIPT)能够早期检测出与胎儿和孕妇健康相关的重要信息。然而,筛查范围的扩大增加了信息的复杂性,并给临床沟通带来了挑战。本研究探讨了比利时医疗保健专业人员的经验,以确定在实践中扩大NIPT面临的挑战及解决方案。我们评估了比利时31名医疗保健专业人员的经验,这些人员包括临床遗传学家、妇科医生、助产士、咨询师和实验室专家,在比利时NIPT是可以获得公共报销的。访谈采用归纳和迭代的方式进行分析。扩大NIPT面临的关键挑战在三个标题下进行了识别和梳理:(1)检测前信息提供:检测的项目越多,信息提供就越复杂;(2)结果反馈:知道得更多可能比知道得更少更糟糕;(3)使确定(全国性)筛查范围变得复杂的障碍。提到的解决方案包括提供额外的咨询资源、实施基于价值的咨询以及统一NIPT的筛查范围。为了将潜在危害降至最低并保持NIPT使用者的信任,对咨询和报告结果的最佳实践进行更充分的论证至关重要。应在各利益相关者群体之间建立可持续的沟通渠道,以推动产前基因筛查技术发展的透明实施。

相似文献

引用本文的文献

本文引用的文献

1
Where is the "counseling" in prenatal genetic counseling?产前遗传咨询中的“咨询”在哪里?
Patient Educ Couns. 2024 Jul;124:108278. doi: 10.1016/j.pec.2024.108278. Epub 2024 Mar 29.
5
High-Resolution and Noninvasive Fetal Exome Screening.高分辨率无创胎儿外显子组筛查
N Engl J Med. 2023 Nov 23;389(21):2014-2016. doi: 10.1056/NEJMc2216144.
6
Cell-free DNA methylome analysis for early preeclampsia prediction.用于早期子痫前期预测的游离DNA甲基化组分析
Nat Med. 2023 Sep;29(9):2206-2215. doi: 10.1038/s41591-023-02510-5. Epub 2023 Aug 28.
9
Informed Decision-Making and Capabilities in Population-based Cancer Screening.基于人群的癌症筛查中的知情决策与能力
Public Health Ethics. 2022 Oct 3;15(3):289-300. doi: 10.1093/phe/phac023. eCollection 2022 Nov.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验