Skip to main navigationSkip to main content
The University of Southampton
Clinical Ethics, Law and SocietyResearch

Research project: Expanded Preconception Carrier Screening - Dormant

Currently Active: 

New technological developments in genetics enable efficient testing for carrier state of many recessive conditions simultaneously: expanded carrier screening (ECS). This has the potential to enhance reproductive choice since it can be done before couples embark on a pregnancy. However there are some ethical and practical issues to be addressed before it can be introduced into a public health care system.  


Most recessive conditions are rare, and most carrier states confer no risk to the individual. Only if both members of a couple are carriers for the same condition, is there an increased risk (25%) of conceiving a child with this recessive condition. The research takes place in two clinical settings: general practice (in the Netherlands) and the fertility clinic (in the UK).

This PhD project is jointly funded by the University of Southampton and the University Medical Centre Groningen, the Netherlands. The international supervisory team is multidisciplinary and consists of experts in clinical genetics, clinical ethics and health psychology. The study builds on prior research exploring a hypothetical couple-based ECS test-offer to the general population (see Plantinga et al., 2016 EJHG). 

In the Netherlands, an implementation pilot offered couple-based ECS testing to couples through their general practice. General practitioners were trained to provide the ECS pre-test counselling. The pilot examined the uptake of the test-offer, the psychological impact and the feasibility of a GP-provided test-offer. Couples participated in a longitudinal survey and semi-structured interviews were held with general practitioners. For the first results of this study, see Schuurmans et al., 2019 EJHG.

In Southampton, a qualitative approach was adopted to explore the ethical issues inherent in provision of couple, rather than individual results. Multiple focus groups with health care professionals and semi-structured interviews were held with couple/individuals referred for fertility treatment to examine their views and experiences. Exploring the concept of a couple-based approach in a fertility setting is particularly interesting, because the prospective parents might use an egg/sperm donor to conceive. In that case, the ‘genetic couple’ is not the same as the ‘social couple’. Additionally, a fertility setting might bring particular issues to ECS, which are relevant to understand before testing is implemented routinely.

For further information please contact PhD student Dr Juliette Schuurmans


Share this research project Share this on Facebook Share this on Twitter Share this on Weibo
Privacy Settings