Claesen-Bengtson Zoë, van der Meij Karuna R M, Vermeesch Joris R, Henneman Lidewij, Borry Pascal
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.
J Community Genet. 2025 Feb;16(1):91-103. doi: 10.1007/s12687-024-00751-6. Epub 2024 Dec 21.
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.
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。