Genetic testing and/or screening for cystic fibrosis in Israel and Germany: The interplay of policies and socio-ethical considerations

• Applicant: Privatdozentin Ruth Horn, Ph.D.
• Subject Area: Empirical Social Research ; Human Genetics ; Public Health, Healthcare Research, Social and Occupational Medicine
• Term: since 2023
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 529272624

Cystic Fibrosis (CF) is a progressive inherited disease. Due to improved medical treatments and care, people with CF live into their 30s, 40s, and beyond. Genetic screening and/or testing for CF can be done pre-conceptionally (on individuals/parents), prenatally (on the foetus), or postnatally (on the newborn). Testing policies vary across countries, reflecting their socio-cultural, historical, and political contexts, and give rise to practical and ethical questions as well as public discourses that are both specific to a particular country yet may also reflect common conditions of healthcare and reproductive choices. This project proposes to explore the interplay of policies and socio-ethical considerations in the context of genetic testing and/or screening for CF in Israel and Germany, two countries that are exemplary for adopting contrasting approaches to genetic testing. While CF screening and/or testing in Israel is offered pre-conceptionally and/or prenatally to allow for prevention of CF, in Germany it is part of newborn-screening (NBS) with a focus on early treatment and care. The decision when and how to test for CF provides a window into diverse and sometimes opposing normative considerations and policies. Situated at the interface between sociology, bioethics and law/policies, the aim of this empirical bioethics project is to gain in-depth understanding of the contexts that shape national policies and public perspectives, and of the situations that are experienced by the key-stakeholders (professionals, parents and patients). Seeking to provide insight into each context’s underlying value system, the project has the following objectives: 1) Identify principal actors, their arguments and normative claims, and the influence they exert on discussions regarding the ethical and social implications of CF screening and/or testing. 2) Gain in-depth understanding of the practical-ethical challenges in the interplay of values, practices and regulations, by exploring the linkage of screening and testing as experienced by affected individuals who navigate between public health screening and individual testing, and by identifying stakeholders’ perceptions of the ethical issues they identify in everyday life and at a societal/policy level. 3) Provide insight into the underlying value systems regarding genetic screening/testing for CF and its use in either prenatal testing and/or NBS within the broader socio-cultural contexts. 4) Contribute to the development of coordinated models of good practice together with relevant stakeholders through comparative approaches to the ethics of prenatal genetics. This will inform the ethical analysis and policymaking nationally and internationally. This project involves policy research, conceptual analysis and comparative empirical research with professionals, parents and adult patients. The data generated will be analysed qualitatively, aiming at better coordination of health policies.

• DFG Programme: Research Grants
• International Connection: Israel
• International Co-Applicant: Professor Dr. Aviad Raz