Peter Michelle, Hill Melissa, Fisher Jane, Daniel Morgan, McInnes-Dean Hannah, Mellis Rhiannon, Walton Holly, Lafarge Caroline, Leeson-Beevers Kerry, Peet Sophie, Tapon Dagmar, Wynn Sarah L, Chitty Lyn S, Parker Michael
North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Eur J Hum Genet. 2025 Mar;33(3):360-367. doi: 10.1038/s41431-024-01700-0. Epub 2024 Oct 3.
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.
在许多发达国家,产前测序检测正被引入临床实践。部分由于其在检测基因变异方面能力更强,提供产前测序可能带来伦理挑战。在此,我们回顾了英国国家医疗服务体系(NHS)实施产前测序后出现的伦理问题。我们分析了对48位接受产前测序的父母以及63位参与提供该服务的医疗专业人员进行的半结构化访谈,以确定所提出的伦理问题。确定了两个主要主题:(1)获取的公平性(包括围绕资格标准、实验室分析流程、临床医生的认知与教育、对诉讼的担忧、地理位置、父母的差旅费用以及获得私立医疗服务的机会等问题),以及(2)及时性及其对孕期父母决策的影响(在有关终止妊娠的法律背景下、在没有产前测序结果时的决策,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。尽管这些问题特定于英国的情况,但我们所确定的许多问题更广泛地适用于产前测序服务。对医疗专业人员和父母的教育将有助于减轻其中一些伦理问题。