Non-invasive prenatal genetics and genomics in England, France and Germany - Exploring practical ethical issues 'on the ground'

英国、法国和德国的非侵入性产前遗传学和基因组学——探索“实地”的实际伦理问题

• 批准号: ES/T00908X/1
• 负责人: Ruth Horn
• 金额: $ 94.31万
• 依托单位: University of Oxford
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2020
• 资助国家: 英国
• 起止时间: 2020 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=ES%2FT00908X%2F1
• 关键词: Non; invasive; prenatal; genetics; genomics

This project proposes a new approach to explore ethical issues arising from the clinical implementation of genomics in antenatal care in the twenty first century. Situated at the interface between sociology, bioethics and law/social policy this research seeks to gain in-depth understanding of the situations in which these questions emerge and are experienced by the key-stakeholders (health professionals, patients, scientists, policy-makers), and provide insight into the underlying value systems which promote them. This comparative investigation takes non-invasive prenatal testing (NIPT) in England, France and Germany as a case study. NIPT is a rapidly developing genomic technology that is constantly widening its scope and opening up new possibilities in reproductive medicine. Since 2011, NIPT, which uses cell-free foetal DNA in the maternal blood, has been commercially available worldwide. NIPT can be done early in pregnancy - in the first trimester - and is considered highly reliable for detecting common chromosomal anomalies (e.g. trisomy 21, 18 or 13). NIPT for these anomalies is not used as a diagnostic test at present and so a positive NIPT test requires invasive testing for confirmation. Research is also being done to investigate the usefulness of the test for microdeletions (e.g. cri-du-chat syndrome) and for single gene disorders. Some authors suggest that, in the future, it could be used to sequence the whole-genome of a foetus. The introduction of NIPT into routine antenatal care carries not only benefits but also raises important ethical questions about the meaning of health, illness and disability, the scope of public health interventions, social inclusion and exclusion as well as reproductive choice. These issues require careful analysis within their specific contexts. By 2020 NIPT will be freely available to women at risk of common chromosomal anomalies in England, France and Germany. Although all three healthcare systems agree that NIPT should be used as a screening tool, they differ with regard to: the risk thresholds they use, their public discourses about genomics, screening policies, professional regulations and laws regarding prenatal genetics/genomics. The aim of this project is to conduct an in-depth investigation of the ethical issues arising from NIPT in three different socio-cultural contexts within Europe (England, France and Germany). To achieve this aim, the project has three research and two impact objectives:1. Provide insight into the values and socio-political particularities that shape the (future) use and regulation of NIPT within different socio-cultural contexts. 2. Describe the views and normative arguments presented in public debates on the ethical and social implications of NIPT, and identify the principal actors who influence these debates in each country-site.3. Gain in-depth understanding of the experiences and practical-ethical problems the principal actors encounter in practice and investigate how these are resolved.4. Impact on prenatal screening policy by changing the way we think about the ethical issues arising in practice, nationally and internationally.5. Develop a comparative empirical bioethics approach as an innovative tool in healthcare research.This empirical bioethics project involves document analysis (of professional and ethics guidelines, policies, laws, bioethics and social sciences literature, media), conceptual analysis (of the normative arguments raised in each country) and comparative empirical research (observations, interviews, focus groups) with patients, healthcare professionals, scientists, policy-makers. The data generated will be analysed together in an iterative process. The aim is to provide a contextual understanding of the practical ethical issues raised by NIPT within their socio-cultural, legal and structural context. This will generate important elements for the development of models of good practice within Europe.

本计画提出一种新的方法来探讨基因组学在二十一世纪世纪产前照护临床应用所产生的伦理问题。该研究位于社会学、生物伦理学和法律/社会政策之间的界面，旨在深入了解这些问题出现的情况以及关键利益相关者（卫生专业人员、患者、科学家、政策制定者）所经历的情况，并提供对促进这些问题的潜在价值体系的深入了解。本研究以英国、法国和德国的无创性产前检查（NIPT）为例进行比较研究。NIPT是一种快速发展的基因组技术，正在不断扩大其范围，并为生殖医学开辟新的可能性。自2011年以来，使用母体血液中无细胞胎儿DNA的NIPT已在全球范围内上市。NIPT可以在怀孕早期进行-在前三个月-并且被认为对于检测常见的染色体异常（例如21，18或13三体）非常可靠。目前，这些异常的NIPT未用作诊断测试，因此阳性NIPT测试需要侵入性测试进行确认。还正在进行研究，以调查微缺失（如cri-du-chat综合征）和单基因疾病测试的有用性。一些作者认为，在未来，它可以用于测序胎儿的整个基因组。将NIPT引入常规产前护理不仅带来好处，而且还提出了有关健康，疾病和残疾的含义，公共卫生干预措施的范围，社会包容和排斥以及生殖选择的重要伦理问题。这些问题需要在其具体背景下加以认真分析。到2020年，NIPT将免费提供给英国、法国和德国面临常见染色体异常风险的妇女。虽然所有三个医疗保健系统都同意NIPT应被用作筛查工具，但它们在以下方面存在差异：他们使用的风险阈值，他们对基因组学的公开讨论，筛查政策，有关产前遗传学/基因组学的专业法规和法律。该项目的目的是在欧洲（英国，法国和德国）三个不同的社会文化背景下，对NIPT产生的伦理问题进行深入调查。为了实现这一目标，该项目有三个研究和两个影响目标：1。提供洞察的价值观和社会政治的特殊性，塑造（未来）的使用和不同的社会文化背景下的NIPT的监管。2.描述在关于NIPT的伦理和社会影响的公共辩论中提出的观点和规范性论点，并确定在每个国家/地区影响这些辩论的主要参与者。深入了解主要参与者在实践中遇到的经验和实际伦理问题，并研究如何解决这些问题。通过改变我们对国内和国际实践中出现的伦理问题的看法，对产前筛查政策产生影响。发展一个比较经验的生命伦理学方法作为医疗研究的创新工具。这个经验的生命伦理学项目包括文件分析（专业和伦理准则、政策、法律、生物伦理和社会科学文献、媒体）、概念分析（各国提出的规范性论点）和比较经验研究（观察、访谈、焦点小组）与患者、医疗保健专业人员、科学家、政策制定者。所产生的数据将在一个迭代过程中一起进行分析。其目的是提供一个上下文的理解，实际的伦理问题提出的NIPT在其社会文化，法律的和结构背景。这将为在欧洲发展良好做法模式提供重要的要素。

项目成果

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol

NHS 儿科罕见病基因组医学服务的混合方法评估：研究方案

• DOI: 10.3310/nihropenres.13236.2
• 发表时间: 2022
• 期刊: NIHR Open Research
• 作者: Lewis C

NIPT and the concerns regarding 'routinisation'.

• DOI: 10.1038/s41431-022-01053-6
• 发表时间: 2022-06
• 期刊: EUROPEAN JOURNAL OF HUMAN GENETICS
• 影响因子: 5.2
• 作者: Horn, Ruth

Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison.

• DOI: 10.1038/s41431-022-01247-y
• 发表时间: 2023-03
• 期刊: European journal of human genetics : EJHG

Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing.

• DOI: 10.1038/s41431-022-01225-4
• 发表时间: 2023-02
• 期刊: European journal of human genetics : EJHG

Preserving women's reproductive autonomy while promoting the rights of people with disabilities?: the case of Heidi Crowter and Maire Lea-Wilson in the light of NIPT debates in England, France and Germany.

• DOI: 10.1136/medethics-2021-107912
• 发表时间: 2023-07
• 期刊: JOURNAL OF MEDICAL ETHICS
• 影响因子: 4.1
• 作者: Perrot, Adeline;Horn, Ruth
• 通讯作者: Horn, Ruth