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

这个项目提出了一种新的方法来探索21世纪在产前护理中临床实施基因组学所产生的伦理问题。这项研究位于社会学、生物伦理学和法律/社会政策之间，旨在深入了解关键利益相关者(卫生专业人员、患者、科学家、政策制定者)出现和经历这些问题的情况，并提供对促进这些问题的潜在价值体系的洞察。本研究以英国、法国和德国的无创性产前检测(NIPT)为例进行了比较研究。NIPT是一项发展迅速的基因组技术，它正在不断扩大其范围，并在生殖医学中开辟新的可能性。自2011年以来，使用孕妇血液中无细胞胎儿DNA的NIPT已在全球范围内商业化。NIPT可以在怀孕早期--在怀孕的前三个月--进行，被认为是检测常见染色体异常(如21、18或13三体)的高度可靠的方法。这些异常的NIPT目前还没有被用作诊断试验，因此阳性的NIPT试验需要进行侵入性测试才能确认。还在进行研究，以调查微缺失(例如CRI-DU-ChAT综合征)测试和单基因疾病测试的有用性。一些作者建议，在未来，它可以用来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，而且还提出了关于健康、疾病和残疾的含义、公共卫生干预的范围、社会包容和排斥以及生殖选择等重要的伦理问题。这些问题需要在其特定背景下仔细分析。到2020年，英国、法国和德国将向有常见染色体异常风险的妇女免费提供NIPT。虽然三个医疗保健系统都同意将NIPT用作筛查工具，但它们在以下方面有所不同：它们使用的风险阈值、它们关于基因组学的公开论述、筛查政策、专业法规和关于产前遗传学/基因组学的法律。该项目的目的是深入调查NIPT在欧洲三个不同的社会文化背景下(英国、法国和德国)产生的伦理问题。为了实现这一目标，该项目有三项研究和两个影响目标：1.洞察在不同社会文化背景下塑造(未来)NIPT使用和监管的价值观和社会政治特殊性。2.说明在公开辩论中提出的关于NIPT的伦理和社会影响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行为者。深入了解主要行为者在实践中遇到的经验和实践伦理问题，并调查如何解决这些问题。通过改变我们对国内和国际实践中出现的伦理问题的思考方式，对产前筛查政策产生影响。开发比较实证生命伦理学方法作为医疗研究的创新工具。这一经验性生命伦理学项目包括文献分析(对专业和伦理指导方针、政策、法律、生物伦理学和社会科学文献、媒体)、概念分析(对每个国家提出的规范性论点)，以及与患者、医疗保健专业人员、科学家和政策制定者的比较实证研究(观察、访谈、焦点小组)。所产生的数据将在迭代过程中一起进行分析。其目的是提供对NIPT在其社会文化、法律和结构背景下提出的实际伦理问题的背景理解。这将为在欧洲范围内发展良好做法模式创造重要因素。

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.