Chair of Bioethics

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Prenatal Genomic Testing

What are the ethical and social implications of clinical translation of prenatal genomic testing approaches in Switzerland?

Over 50 years ago, prenatal diagnosis began with the advent of amniocentesis as a way to diagnose Down Syndrome (Trisomy 21) during pregnancy. Since then, prenatal screening and diagnosis has evolved significantly and has recently become a genomic screening process; examples include non-invasive prenatal testing (NIPT) and even prenatal exome sequencing (pES) (collectively, “prenatal genomic testing”). These methods allow testing for an increasingly expansive range of conditions, including for conditions with milder phenotypes and diverse age of onset. Genetic screening is also now feasible through non-invasive approaches with varying sensitivity and specificity, making the procedural risk low and influencing the rigor of the informed consent process. It has also expanded from high-risk pregnancies to the general pregnancy population, although availability to average-risk pregnancies may be limited by regulations, insurance status, or self-payment possibilities.  

Prenatal genomic testing raises many ethical issues: human rights, dignity, the potential for eugenics, autonomy and decision-making rights, how one practically achieves informed consent and informed choice, and questions of distributive justice in regard to access to prenatal testing. Our understanding of patient and provider experiences and how to evaluate the ethical and social implications of decisions related to prenatal genomic testing continues to be underexplored, and this research has not kept pace with the expansion of genomic technologies. The majority of this research has also centered in a small number of North American and European countries (e.g., U.S., U.K., the Netherlands), meaning there is little data that reflects the unique social, medical, and regulatory contexts that shape the offer of and decision-making of prenatal genomic technologies in less studied regions, including Switzerland.  

The Ethics of Prenatal Genomic Testing in Switzerland: Understanding Stakeholder Views

(Funded by SNSF, Sept 2024-Aug 2028)

Stakeholder views and experiences have yet to be described for either NIPT and pES in Switzerland. As genetic testing and genetic counselling for prenatal testing is federally regulated in Switzerland, it is important to understand how this counselling is occurring, including pre-test and post-test counselling, follow-up care, and provision of supportive resources to families after a diagnosis, including whether this law covers all of the potential ethical challenges that prenatal genomic testing will raise. This project will address the following research question through a multi-phased approach:

“What are the ethical and social implications of clinical translation of prenatal genomic testing approaches in Switzerland?”

Phase 1:
We will describe the current landscape of prenatal genomic testing in Switzerland, using a combination of literature review and law/policy review.
 

Phase 2:
We will complete an empiric assessment of expert and patient/family member attitudes towards prenatal genomic testing via qualitative interviews with the following groups:

1) Prenatal and genetic healthcare providers
2) Pregnant persons currently offered genetic screening and testing
3) Patients and families with lived experience of genetic conditions  
 

Phase 3:
We will synthesize the empiric and normative work from the prior two phases and propose a Swiss framework towards prenatal genomic testing that combines the social and ethical issues that have been identified. This framework will be evaluated through a broad scale survey of medical genetics and obstetrics providers across Switzerland. We will disseminate this comprehensive ethical framework for the use of policymakers and professional medical societies as prenatal genomic testing approaches continue to be offered in Switzerland

 

Project Partners:

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