Gynecologists Practice Hasselt

[Waneta]

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Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular monogenic recessive condition. The information gained through RGCS can be used to make informed reproductive decisions when planning for a future pregnancy [1].

Following the introduction of the Belgian RGCS offer, we implemented a small-scale longitudinal study with three specific objectives. First, we wanted to assess the intention to have RGCS among non-pregnant couples in the general population recruited via a group practice of fourteen gynecologists located in a city in Flanders (Belgium). Secondly, we wanted to assess the extent to which couples make informed choices regarding participation in RGCS. Findings related to the first two objectives have been described elsewhere [2, 3]. Within our study, most nonpregnant women visiting their gynecologist (81%) showed the intention to have RGCS [2]. However, not everyone decided to accept the free RGCS offer. We have reported high rates of informed choice (82%) among couples who did choose to have RGCS [3].

Here, we present the results related to the third objective of the research project which assessed the level of satisfaction, anxiety, knowledge retention, and psychosocial and counseling-related aspects among couples who choose to have RGCS and obtained their screening test results.

As information gained through RGCS can have certain social consequences (e.g., informing family members) and could also have an impact on psychological well-being and health perception (e.g., feeling less healthy after being identified as a carrier) we aimed to learn from the lived experiences of couples who underwent RGCS and received their screening test results. Anxiety levels might for example increase while waiting for screenings results or after being identified as a carrier or an at-risk couple [1]. Earlier studies focusing on preconception RGCS for larger test panels reported favorable psychosocial outcomes and high satisfaction among participants who chose to have RGCS [4, 5]. Nevertheless, some studies did report increased anxiety levels like the American study by Kraft et al. [6] where participants had increased anxiety while waiting for screening results but no negative impact in the long term [6]. Another example is a Dutch study by van Dijke et al. [5] where high-risk individuals (with an a priori high risk of being a carrier or carrier couple) and pregnant women had significantly higher anxiety before receiving screening test results compared to individuals within the general-risk group and non-pregnant.

Nonpregnant women of reproductive age visiting their gynecologist were invited to answer a self-administered questionnaire assessing the intention to have RGCS (objective 1). Prior to filling in the questionnaire, participants were briefly informed about RGCS. Participants who showed the intention to have RGCS were asked to consider participation in a follow-up clinical study where RGCS was offered free of charge. At least one week after the initial contact moment, the researcher re-contacted the female participants to inquire about their decision to accept or decline the RGCS offer. If participants (=two reproductive partners) were interested to participate, they were sent an extensive information leaflet prior to a pre-test counseling session. Both reproductive partners had to be present during this counseling session. If couples agreed to have RGCS they were asked to complete an individual self-administered questionnaire (objective 2) after their blood samples were taken and another individual self-administered questionnaire (objective 3) when receiving back their test results. Women who were pregnant, >40-year-old women, individuals with a history of bone marrow transplantation, minors, and those not able to read and write in Dutch or not able to give informed consent were excluded from participation in this study. A more detailed overview of the recruitment strategy and study set-up of this longitudinal study has been described earlier [2, 3].

Participants were initially informed about their RGCS screening results over the phone by a researcher (EVS) between September 2019 and January 2021. Subsequently, a written report of test results was sent by registered mail to all participants. Each participant received an individual report including their couple-result, their individual test results for seven autosomal recessive conditions (ACADM, CFTR, DHRC7, GJB2, HBB, PAH, and SMN1) and X-linked conditions (female participants). If there were any ambiguities or questions, participants were free to contact the researcher for further explanation. Together with the written report of test results, participants also received the final questionnaire of the research project. Participants were asked to return the completed questionnaires by using the prepaid envelope that was provided to them. A one-time reminder email was sent to all the participants to help improve the response rate.

Statistical analyses were performed using IBM SPSS Statistics 28 for Windows. Descriptive analysis was used to report on all items included in the questionnaire. Analyses were based on complete case analysis. Each participant was treated as an individual study subject.

Future RGCS screening programs should ideally include a long-term monitoring and evaluation (M&E) process that helps to gain more insights into the potential impact of RGCS on the subsequent reproductive decision-making of couples with an increased likelihood of conceiving a child with a genetic condition. In addition, there should also be a close M&E of the clinical utility of the RGCS offer. Especially considering that to date the clinical significance of pathogenic variants rests incomplete [20]. Future research projects should also focus on the decision-making process of individuals/couples who are uncertain/undecided about RGCS or who decline RGCS. This would allow to gain more in-depth insights into the reasoning of these particular groups, to understand their concerns, their doubts/remaining questions, etc.

Our results show that most participants were satisfied with their choice to have RGCS. Overall, anxiety levels were low while knowledge levels were generally high. The decision to have RGCS did not impact the relationship of participants or their desire to have children in the future. Only a small proportion of participants felt worried while waiting for the test results. Most participants positively evaluated the information/counseling and reporting strategy that was used in the context of this study.

Approval to conduct this human subjects research was obtained by the Research Ethics Committee UZ/KU Leuven (S62558, S63243). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Written informed consent for genetic testing was obtained from all individuals undergoing testing.

The authors would like to thank all individuals that participated in this study. In addition, they would like to express their gratitude to the team of gynecologists who have contributed to this study.

EVS, HP, HV, JV, KP, GM, and PB designed the study. The data collection was carried out by EVS. The data analysis was performed by EVS. A first draft of the manuscript was written by EVS and critically discussed and revised by PB, HP, HV, JV, KP, and GM. PB coordinated the study. All the authors have approved the final version.

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