Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

Abstract

Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

“…Another example to support our argument would be the ability to prepare in advance for the possibility of having a child with a hereditary condition. Within our study sample, up to 75% of participants agreed they would accept RGCS because of this reason while other studies (van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Propst et al., 2018; Schuurmans et al., 2020) – with a different way of questioning – reported that this reason was not often chosen by study participants (2%–33%). Compared with earlier studies, our findings also show a larger share of participants who would elect RGCS to prevent the birth of an affected child or because of the fear of regret afterwards.…”

“…(2018), van Dijke et al. (2021), and Nijmeijer et al. (2019) only very few participants (3%–15%) selected this reason in favor of RGCS.…”

“…Some studies asked participants to elect the factor they considered the most important to either accept or decline RGCS (Plantinga et al., 2016; Schuurmans et al., 2020). In other studies, participants were allowed to elect multiple response options (Cheng et al., 2020; van Dijke et al., 2021; Gilmore et al., 2017; Nijmeijer et al., 2019; Propst et al., 2018). The desire to know the chance of having a child with a genetic condition and the ability to make informed reproductive decisions were mentioned as main reasons to elect RGCS by participants in different studies (Cheng et al., 2020; Propst et al., 2018; Rabkina et al., 2021).…”

“…Similarly, the relief that would be felt following negative test results was an important factor for participants in two Dutch studies (Plantinga et al., 2016; Schuurmans et al., 2020). Different studies also assessed whether individuals would opt for RGCS: to spare the future child a life with a severe genetic condition (30%–53%) (van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020), to prevent the birth of an affected child (6%–50%) (Cheng et al., 2020; van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020), or to prepare for a child with a genetic condition (2%–33%) (van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Propst et al., 2018; Rabkina et al., 2021; Ragnar et al., 2016; Schuurmans et al., 2020). Some individuals (10%–27%) indicated that they viewed RGCS as an act of responsibility as a future parent (Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020).…”

Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders

“…Successful niche developments need scaling up to gradually expand. The two currently available ECS initiatives in the Netherlands can serve as examples of a learning phase and evaluation might provide key insights to consider for potentially scaling up implementation [ 35 , 36 ]. It was expected by professionals in this study that the use of ECS will increase in the future, although currently carrier screening is not widely available and public awareness is low [ 37 ].…”