Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)- a qualitative study

Abstract for poster presentation at the EMPAG 2016 conference, Barcelona 21–24 May, 2016, European Society of Human Genetics. Poster Number EMP1.44D

Amal Matar (presenting), MD, PhD Student
Ulrik Kihlbom, Senior Lecturer in Medical Ethics
Anna T. Höglund, Associate Professor of Ethics, Senior Lecturer in Nursing Ethics & Gender Studies

Centre for Research Ethics & Bioethics (CRB), Uppsala University, Sweden


Introduction: preconception expanded carrier screening (ECS) is a new approach to screen couples without priori risk in the general population, who are planning a pregnancy, for autosomal recessive traits. A couple would be screened for many conditions via expanded screening panels at one go. This technique is currently being piloted in the Netherlands but has not been implemented in Sweden.

Materials and Methods: the study explores perceptions of Preconception ECS among Swedish healthcare providers, with focus on ethical aspects.
Eleven healthcare professionals, including clinicians, geneticists, a midwife and a genetic counselor, from academic and clinical institutions in Sweden were interviewed in depth, using a semi-structured interview guide. Interviews were recorded, transcribed verbatim and content analyzed for categories and subcategories.

Results: participants expressed ethical concerns, such as discrimination, medicalization, prioritization of healthcare resources and effects on reproductive freedom. Finding resources for Preconception ECS was regarded as expensive and burdensome for Swedish healthcare system. To reach informed consent with expanded panels was also seen as a challenge. Furthermore, parents might perceive a pressure to undergo testing, if Preconception ECS was implemented. Finally, participants also expressed worries that Preconception ECS would increase medicalization and strive for control of pregnancy and parenthood. However, it was also mentioned that Preconception ECS might enhance reproductive autonomy, reduces births of affected children and could decrease abortion incidence, since it allows parents to opt for reproductive decisions.

Conclusion: participants nurtured many ethical and non-ethical concerns regarding Preconception ECS that may affect the uptake and use. The results give insight of ethical concerns to consider, should Preconception ECS be implemented in Sweden.

Author Disclosure Information: None

Topic: 13. Other relevant psychological and social topics in genetics
Keywords (Complete): preconception; reproductive autonomy; expanded carrier screening

Download poster