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

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.

Knowledge exchange with various researchers will play an important role throughout this project. A two-way dialogue will allow this research to have an impact on stakeholders and practices. At the same time it will help us to embed our research in practice which will enable us to frame our research questions and improve our analysis.

Who might benefit from this research?
We will engage with pregnant women/couples, health professionals in foetal/reproductive genomics medicine (midwives, consultants, counsellors, geneticists) and policy-makers in England, France and Germany.
NIPT raises important ethical and practical questions. It is imperative that those using, providing and regulating this test (women/couples, health professionals and policy-makers) understand its potential impact and are involved in relevant discussions about its implementation. In addition to this, this project seeks to gain in-depth understanding of ethical questions that arise in practice in three national contexts. It is therefore important that we engage with the relevant stakeholders to refine our research questions, improve and confirm our understanding of ethical issues that arise in practice, but also discuss our findings and reflect together with the stakeholders on models of good practice.

How might they benefit from this research?
We will run a series of dialogue events in the three countries that will involve guided conversations with a broad range of pregnant women/couples and health professionals. Our team will propose talks that include information about the scientific issues as well as the ethical and social aspects of NIPT. These talks will give women/couples and professionals the opportunity to discuss, share and reflect upon their experiences, and ethical and social questions raised by the use of NIPT. These exchanges will enable pregnant women/couples and front-line professionals to make their voice heard, be listened to, take active influence on our research and the issues we will address, and to feed into policy debate.
Furthermore, our team will hold two one-day international workshops with health professionals, policy-makers and patient representative from the three countries. The workshops will present an opportunity for these actors to share their experience with our team and learn from our empirical findings and theoretical analysis.
Recommendations for good ethical practice can have a positive impact, but only when they address ethical issues that concerned groups encounter in practice. By involving the relevant stakeholders, we will avoid making claims that are based on purely theoretical arguments that are distanced from practical contexts. This will have a positive impact on the use and regulation of NIPT and inform good ethical standards in each country.
In addition to the events and workshops, we will disseminate our findings and write a policy-focused paper that we will present to and discuss with women through e.g. the UK charities ARC (Antenatal Results and Choices) and Down's Syndrome Association, and with doctors through e.g. the BSGM (British Society for Genetic Medicine). We will also reach out to the UK National Screening Committee and Public Health England (PHE) Screening. Similar dissemination channels will be used in Germany and France. Our policy-focused paper will address the emerging ethical issues including women's and health professionals' needs and concerns regarding the use of NIPT. Such issues will include recommendations e.g. for improved patient communication and information about the test, its possibilities and limitations, and its possible social, ethical and individual impact on women/couples or the future child. The recommendations will address country specific issues as well as common issues in the three countries, and beyond.