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

Abstract

ObjectiveBetween 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.DesignEmpirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion.SettingThe Netherlands.Participants7 Dutch GPs in the Netherlands, interviewed in 2019–2020.ResultsTwo 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’.ConclusionThe 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.

Societal implications of expanded universal carrier screening: a scoping review

“…Table 1 gives an oversight of the main characteristics of the articles included. Authors were from the United States and Canada [ 25 – 32 ], Australia and New Zealand [ 13 , 33 , 34 ], the United Kingdom [ 35 , 36 ], the Netherlands, [ 2 , 5 , 20 , 37 – 49 ] Sweden, [ 14 , 50 – 53 ] Belgium [ 10 , 54 ], Israel, [ 6 , 55 – 57 ] France [ 58 ] and Cyprus [ 4 , 7 ], or consisted of a panel of European or international stakeholders [ 3 , 21 ]. Most articles were published after 2011.…”

“…Most articles were published after 2011. [ 2 , 3 , 5 , 9 , 10 , 13 , 14 , 20 , 21 , 25 – 31 , 33 , 35 , 36 , 38 – 41 , 43 – 55 , 58 ] Multiple article types were present in this selection, including primary data of quantitative survey studies [ 30 , 38 , 44 , 48 , 50 , 58 ] and qualitative studies, [ 2 , 6 , 29 , 39 , 46 , 49 , 51 – 55 ] a witness seminar [ 41 ], a workshop with experts [ 3 ], descriptions of previous screening offers or evaluations thereof [ 21 , 40 , 42 , 43 , 57 ], theoretical papers [ 4 , 7 , 13 , 14 , 20 , 27 , 28 , 31 , 32 , 34 , 35 , 45 , 47 ], literature reviews [ 10 , 33 , 36 , 56 ], an expert consensus paper [ 5 ], cost-effectiveness analyses [ 25 , 26 ] and a sociotechnical analysis [ 37 ].…”

“…It is stated that not attending public health implications may affect the capacity of people to exercise their reproductive autonomy. Morberg Jamterud [ 49 ] 2021 Netherlands Qualitative interview article with general practitioners ( N = 7), compared with a theoretical bioethical analysis study To present an empirical bioethics analysis of the PECS practice from the perspective of GPs. Expanded Two themes were identified in the analysis: (1)‘Choice and its complexity’, which suggests that medical, moral, social and psychological aspects co-shape the complexity of choice regarding EUCS and (2) EUCS as prompting existential concerns’, indicating that it is not possible to analyse existential issues raised by EUCS solely on the level of the couple or family but that a societal level must be included, since these levels affect each other (referred to as ‘entangled existential genetics’).…”

“…Empirical evidence that such implications occur is however scarce (Table 3 ). The potential negative effects related to medicalization listed were: (A) supply push of EUCS [ 2 , 14 , 39 , 40 , 44 , 46 , 50 ], (B) routinization of EUCS or its uncritical use [ 2 , 3 , 6 , 13 , 14 , 27 , 29 , 30 , 32 , 34 , 36 , 38 , 44 , 45 , 49 , 51 – 53 , 55 , 56 ] and (C) that EUCS may contribute to a societal climate where having less than ‘perfect children’ is regarded as problematic. [ 3 , 4 , 14 , 29 , 46 , 51 – 54 ] These subthemes are described in more detail below.…”

“…This concern was also expressed by HCPs and policy makers. [ 2 , 29 , 49 , 51 – 53 ] Stakeholders moreover stated that if EUCS becomes routine, it may impact the perception of health in the sense that risks need to be prevented [ 29 , 52 ]. Ready et al [ 30 ] reported that 33% of women’s HCPs were ambivalent regarding the notion that carrier screening is socially responsible behavior.…”