产前伦理测序服务有效性的公平性和及时性因素:来自父母和专业人士的思考。

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY European Journal of Human Genetics Pub Date : 2024-10-03 DOI:10.1038/s41431-024-01700-0
Michelle Peter, Melissa Hill, Jane Fisher, Morgan Daniel, Hannah McInnes-Dean, Rhiannon Mellis, Holly Walton, Caroline Lafarge, Kerry Leeson-Beevers, Sophie Peet, Dagmar Tapon, Sarah L Wynn, Lyn S Chitty, Michael Parker
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引用次数: 0

摘要

许多发达国家正在将产前测序检验引入临床实践。由于产前测序具有更强的基因变异检测能力,因此在提供产前测序服务的同时也带来了伦理方面的挑战。在此,我们回顾了英国国家医疗服务系统(NHS)实施产前测序后出现的伦理问题。我们分析了对 48 名接受产前测序的父母和 63 名参与提供该服务的医疗专业人员进行的半结构式访谈,以确定所提出的伦理问题。我们确定了两大主题(1) 获得服务的公平性(包括资格标准、实验室分析流程、临床医生的认识和教育、对诉讼的恐惧、地理位置、父母的交通费用以及获得私人医疗服务的机会等方面的问题),以及 (2) 及时性及其对父母怀孕决策的影响(与终止妊娠有关的法律、在没有产前测序结果的情况下的决策以及产前测序结果的 "重要性")。认识到提供全国性产前测序服务所产生的实际和系统性伦理问题至关重要。尽管这些问题是英国特有的,但我们发现的许多问题也适用于更广泛的产前测序服务。对医疗专业人员和父母的教育将有助于缓解其中的一些伦理问题。
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Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.

Prenatal sequencing tests are being introduced into clinical practice in many developed countries. In part due to its greater ability to detect genetic variation, offering prenatal sequencing can present ethical challenges. Here we review ethical issues arising following the implementation of prenatal sequencing in the English National Health Service (NHS). We analysed semi structured interviews conducted with 48 parents offered prenatal sequencing and 63 health professionals involved in delivering the service to identify the ethical issues raised. Two main themes were identified: (1) Equity of access (including issues around eligibility criteria, laboratory analytical processes, awareness and education of clinicians, fear of litigation, geography, parental travel costs, and access to private healthcare), and (2) Timeliness and its impact on parental decision-making in pregnancy (in the context of the law around termination of pregnancy, decision-making in the absence of prenatal sequencing results, and the "importance" of prenatal sequencing results). Recognising both the practical and systemic ethical issues that arise out of delivering a national prenatal sequencing service is crucial. Although specific to the English context, many of the issues we identified are applicable to prenatal sequencing services more broadly. Education of health professionals and parents will help to mitigate some of these ethical issues.

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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
期刊最新文献
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