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.

该项目提出了一种新方法来探讨二十一世纪产前保健中基因组学临床实施所产生的伦理问题。这项研究位于社会学、生物伦理学和法律/社会政策之间的交叉点，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，并深入了解促进它们的潜在价值体系。本次比较研究以英国、法国和德国的无创产前检测（NIPT）为例。 NIPT 是一项快速发展的基因组技术，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，使用母血中胎儿游离 DNA 的 NIPT 已在全球范围内商业化。 NIPT 可以在妊娠早期（妊娠前三个月）进行，被认为对于检测常见染色体异常（例如 21、18 或 13 三体）非常可靠。目前，针对这些异常的 NIPT 不用作诊断测试，因此 NIPT 测试呈阳性需要侵入性测试来确认。还正在进行研究以调查微缺失（例如cri-du-chat综合征）和单基因疾病测试的有用性。一些作者建议，未来它可以用于对胎儿的全基因组进行测序。将 NIPT 引入常规产前护理不仅带来好处，而且还引发了有关健康、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等重要的伦理问题。这些问题需要结合具体情况进行仔细分析。到 2020 年，英格兰、法国和德国面临常见染色体异常风险的女性将免费获得 NIPT。尽管所有三个医疗保健系统都同意 NIPT 应该用作筛查工具，但它们在以下方面有所不同：使用的风险阈值、关于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。该项目的目的是深入调查欧洲三个不同社会文化背景（英国、法国和德国）中 NIPT 引起的伦理问题。为了实现这一目标，该项目有三个研究目标和两个影响目标：1．深入了解影响不同社会文化背景下 NIPT（未来）使用和监管的价值观和社会政治特殊性。 2. 描述关于 NIPT 的伦理和社会影响的公开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。 3．深入了解主要参与者在实践中遇到的经验和实践伦理问题并研究如何解决。4．通过改变我们对国内和国际实践中出现的伦理问题的思考方式来影响产前筛查政策。5。开发比较经验生命伦理学方法，作为医疗保健研究的创新工具。这个经验生命伦理学项目涉及文件分析（专业和伦理指南、政策、法律、生物伦理学和社会科学文献、媒体）、概念分析（对每个国家）以及与患者、医疗保健专业人员、科学家、政策制定者的比较实证研究（观察、访谈、焦点小组）。生成的数据将在迭代过程中一起分析。目的是在社会文化、法律和结构背景下提供对 NIPT 提出的实际伦理问题的背景理解。这将为欧洲内部良好实践模式的发展产生重要因素。

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