医疗保健专业人员扩大无创产前筛查的经验:挑战和解决方案。

IF 1.5 Q4 GENETICS & HEREDITY
Zoë Claesen-Bengtson, Karuna R M van der Meij, Joris R Vermeesch, Lidewij Henneman, Pascal Borry
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引用次数: 0

摘要

全基因组无创产前无细胞DNA筛查(NIPT)可导致早期发现胎儿和孕妇的重要健康相关信息。然而,筛查范围的扩大增加了信息的复杂性,并为临床相互作用带来了挑战。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的挑战和解决方案。我们评估了31名医疗保健专业人员的经验,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是公共报销的。对访谈进行归纳和迭代分析。扩展NIPT的主要挑战被确定并结构化为以下三个标题:(1)测试前信息提供:测试越多,信息提供就越复杂;(2)结果返回:知道的多可能比知道的少更糟糕;(3)使设定(全国)范围复杂化的障碍。提到的解决方案包括为咨询提供额外的资源,实施基于价值的咨询,以及统一NIPT的范围。为了最大限度地减少潜在的危害并保持npt使用者的信任,咨询和报告结果的最佳做法必须得到更充分的证实。应在利益相关者群体之间建立可持续的沟通渠道,以引导产前遗传筛查技术发展的透明实施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.

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.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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