Title: Non-invasive prenatal genetics and genomics in England, France and Germany - Exploring practical ethical issues 'on the ground'
Funder: Economic and Social Research Council

Abstract: The aim of this project is to conduct an in-depth comparative investigation of the practical ethical issues arising from NIPT, and more broadly from the introduction of reproductive genomic medicine in public health services in 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. This will be achieved by comparative case studies using an empirical bioethics approach. The strength of this approach is that it highlights similarities and differences between the countries, and emphasises the values, norms and moral arguments at stake in each country-site. In-depth comprehension of each country's value-systems will help develop a better understanding of the ways new genomic technologies in reproductive medicine are implemented in practice. 2. Describe the views and normative arguments presented in the public debates on the ethical and social implications of NIPT, and identify the principal actors who influence these debates in each country-site. This will require document analysis focusing on normative key concepts and arguments used, and on regulations of prenatal testing and genomics (with focus on NIPT) in each country in: legal and regulatory texts; public reports; parliamentary debates; medical press; academic literature in healthcare, bioethics, sociology, anthropology and law; and the media. The goal of this objective is to analyse and conceptualise normative arguments and regulations of prenatal genomics, and to develop context-sensitive accounts of concepts such as reproductive autonomy, disability, illness and (public) health. 3. Gain in-depth understanding of the experiences and practical-ethical problems the principal actors encounter in practice and investigate how these are resolved. This will involve ethnographically informed research combining direct observations (consultations) with semi-structured interviews (health professionals) and focus groups (women). It will provide an opportunity to understand how participants' experiences might be informed by discourses, beliefs or ideas that exist in wider society, and to further explore the value systems and cultural frames in which participants operate. 4. Impact on prenatal screening policy by changing the way relevant ethical issues arising in practice are approached, nationally and internationally. The comparative approach will highlight similarities and generate workable approaches to improve the implementation of genetic tests (NIPT) in each country. Recommendations for good ethical practice can have a positive impact when they address ethical issues that are encountered in practice. By using qualitative methods, running public engagement events and involving policy-makers, we can avoid making claims that are primarily based on theoretical arguments. This will have a positive impact on the use and regulation of NIPT and inform good ethical standards that are adapted to each country's context, and beyond. 5. Develop a comparative empirical bioethics approach as an innovative tool in healthcare research. This will combine document analysis, conceptual analysis and comparative empirical research. Bringing together sociology, bioethics and law/policy will provide a contextualised understanding of how ethical problems arise and are addressed in clinical settings where ethically sensitive, and sometimes controversial, decisions are made. The comparative perspective allows for the development of ethical practice in healthcare nationally, and internationally. This approach can be applied to other bioethical problems, especially in the field of genetics.

Lay abstract: 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.

Research activity codes: 8.3 POLICY, ETHICS AND RESEARCH GOVERNANCE
Health categories: GENERIC HEALTH RELEVANCE