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

This project, funded by the ESRC (ES/T00908X/1), proposes a new approach to explore ethical issues arising from the clinical implementation of genomics in antenatal care. 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.

Non-invasive prenatal testing (NIPT) is a rapidly developing technology, which is constantly widening its scope in reproductive medicine. According to some authors, NIPT is at the ‘vanguard of genomic 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 researchers expect that, in the future, it could be used to sequence the whole-genome of a foetus. 

In England, France and Germany, NIPT is, or will soon be, freely available to women with a chance of having a baby with a common chromosomal anomaly. Although all three healthcare systems agree that NIPT should be used as a second-tier test (i.e. following initial risk assessment), 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 introduction of NIPT into routine antenatal care carries not only benefits but also raises important ethical questions about the meaning of health, risk, 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. 

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, our research team will investigate the values and socio-political particularities that shape the (future) use and regulation of NIPT within different socio-cultural contexts. This will involve a document analysis (of professional and ethics guidelines, policies, laws, bioethics and social sciences literature, media) and conceptual analysis (of the normative arguments) to examine the views and normative arguments presented in public debates on the ethical and social implications of NIPT in each country-site.

In addition, a comparative empirical research (observations, interviews, focus groups) will help to gain in-depth understanding of the experiences and practical-ethical problems the principal actors (patients, healthcare professionals, scientists, policy makers) encounter in practice and investigate how these are resolved in each country.

Finally, the project will 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.

Events

Non-invasive prenatal testing (NIPT): Supporting pregnant women's personal choices

• 8 December 2022, 13:00 - 14:00 (CET)
• Watch a recording of the webinar on YouTube
• This webinar will focus on the French public health system and will take place in French
• Webinar details

Non-Invasive Prenatal Testing: Implementation in England, France and Germany

• 26 - 27 October 2022
• Big Data Institute, University of Oxford, UK
• Workshop Programme

OUTCOMES

• Ruth Horn, Alison Hall, Anneke Lucassen, Ethical considerations in prenatal genomic testing, Best Practice & Research Clinical Obstetrics & Gynaecology, Volume 97, 2024, 102548, ISSN 1521-6934, https://doi.org/10.1016/j.bpobgyn.2024.102548.

• Nov-Klaiman, T., Bowman-Smart, H. & Horn, R. Negotiating severity behind the scenes: prenatal testing in Germany. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01612-z

• Bowman-Smart, H., Perrot, A. & Horn, R. (2024). Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France. BMC Medical Ethics, 25, 34. https://doi.org/10.1186/s12910-024-01032-0
• Perrot, A., Clarke, A., Vassy, C. & Horn, R. (2023). Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices. Journal of Genetic Counseling, 00, 1–11. https://doi.org/10.1002/jgc4.1839
• Bowman-Smart, H., Wiesemann, C. & Horn, R. Non-invasive prenatal testing in Germany: a unique ethical and policy landscape. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01256-x
• Boardman, F., Horn, R. Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing. Eur J Hum Genet (2022). doi.org/10.1038/s41431-022-01225-4
• Perrot A, Horn R (2022) Health professionals and scientists’ views on genome-wide NIPT in the French public health system: Critical analysis of the ethical issues raised by prenatal genomics. PLOS ONE 17(11): e0277010. doi.org/10.1371/journal.pone.0277010
• Horn, R. NIPT and the concerns regarding ‘routinisation’. Eur J Hum Genet (2022). doi.org/10.1038/s41431-022-01053-6
• Perrot, A, Horn, R. 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. J Med Ethics. (2022). doi: 10.1136/medethics-2021-107912
• Perrot, A, Horn, R. The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review. Eur J Hum Genet (2021). doi.org/10.1038/s41431-021-00970-2

Other outputs

• Ethical issues in prenatal genetic diagnosis: guidance for clinical practice from the Joint Committee on Genomics in Medicine (comprising the Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine) (2022). The document was written by Ruth Horn (chair), Alison Hall, and Anneke Lucassen, in collaboration with the working group.
• Blog post: Public reactions to non-invasive prenatal testing funding in England, France and Germany: The case of Heidi Crowter and Maire Lea-Wilson in England (Journal of Medical Ethics, March 2022)

Project Team

Ruth Horn (PI) 

Adeline Perrot (Researcher) 

Hilary Bowman-Smart (Researcher)

Tamar Nov Klaiman (Researcher)

Carine Vassy (Co-I, France)

Claudia Wiesemann (Co-I, Germany)