Qualitative study of GPs' views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives

Objective Between 2016 and 2017, a population-based preconception expanded carrier screening (PECS) test was developed in the Netherlands during a pilot study. It was subsequently made possible in mid-2018 for couples to ask to have such a PECS test from specially trained general practitioners (GPs). Research has described GPs as crucial in offering PECS tests, but little is known about the GPs' views on PECS and their experiences of providing this test. This article presents a thematic analysis of the PECS practice from the perspective of GPs and a bioethical discussion of the empirical results. Design Empirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion. Setting The Netherlands. Participants 7 Dutch GPs in the Netherlands, interviewed in 2019-2020. Results Two themes were identified in the thematic analysis: 'Choice and its complexity' and 'PECS as prompting existential concerns'. The empirical bioethics discussion showed that the first theme highlights that several areas coshape the complexity of choice on PECS, and the need for shared relational autonomous decision-making on these areas within the couple. The second theme highlights that it is not possible to analyse the existential issues raised by PECS solely on the level of the couple or family. A societal level must be included, since these levels affect each other. We refer to this as 'entangled existential genetics'. Conclusion The empirical bioethical analysis leads us to present two practical implications. These are: (1) training of GPs who are to offer PECS should cover shared relational autonomous decision-making within the couple and (2) more attention should be given to existential issues evoked by genetic considerations, also during the education of GPs and in bioethical discussions around PECS.

Automated summary

The study focuses on the development and implementation of population-based preconception expanded carrier screening (PECS) test in the Netherlands and its provision by general practitioners (GPs). The thematic analysis of interviews with 7 Dutch GPs highlights the complexity of choice on PECS and the need for shared decision-making within couples, as well as the existential concerns prompted by PECS. The bioethical discussion emphasizes the importance of training GPs in shared decision-making and addressing existential issues raised by genetic considerations.