TY - THES ID - 147264569 TI - Attitudes of genetic healthcare professionals regarding the reporting of results from the BeGECS: an interview study AU - Goossens, Kaat AU - Van Steijvoort, Eva AU - Borry, Pascal AU - KU Leuven. Faculteit Geneeskunde. Opleiding Master in de biomedische wetenschappen (Leuven) PY - 2024 PB - Leuven KU Leuven. Faculteit Geneeskunde DB - UniCat UR - https://www.unicat.be/uniCat?func=search&query=sysid:147264569 AB - Background & objectives: Reproductive genetic carrier screening for monogenic conditions (RGCS) aims to identify asymptomatic carriers of autosomal recessive (AR) or X-linked (XL) conditions, with the goal of increasing individuals’ reproductive autonomy, by allowing them to make informed reproductive decisions. Since its introduction in Belgium in 2019, multiple studies have been performed to gauge stakeholders’ perspectives on the implementation of RGCS. However, there is a lack of literature evaluating the views of these stakeholders based on their experience with the test. In this thesis, we focused on the views of trained genetic professionals towards the reporting of results from the Belgian Genetic Expanded Carrier Screening (BeGECS), the Belgian RGCS initiative. More specifically, we evaluated the opinions of clinical geneticists, genetic counsellors and laboratory staff members regarding the reporting of individual versus couple-based outcomes, incidental findings (IFs) and variants of unknown significance (VUSs). Methods: In-depth qualitative interviews were conducted with Belgian genetic professionals experienced in RGCS, from December 2023 until April 2024. All interviews were transcribed verbatim and were subjected to analysis using NVivo 1.7.2. Results: Our study sample consisted of 18 participants affiliated to six genetic centres in Belgium. The majority of our participants were female (n= 14) and practiced the profession of genetic counsellor (n= 10). On average participants were 44 years of age (IQR: 36-50, Range: 30-61), with varying degrees of experience in their profession. Notably, counselling dynamics exerted a significant influence on the views of our study sample towards the reporting of results from the BeGECS. While the majority of genetic professionals agreed with couple-based reporting, opinions varied regarding the provision of an opt-in or opt-out option for individual results. There was a general agreement in favour of the reporting of IFs, although some discussion existed about exactly which of these should be reported. Most participants were of the opinion that couples should have the option to receive IFs. Despite being opposed to the reporting of VUSs in the context of RGCS, the majority of participants still were in favour of reanalysis of these variants. Conclusion: This study yields valuable insights into the attitudes of Belgian genetic professionals towards to reporting of test results in the context of RGCS. While not unanimous, prevailing practices received support from most participants. Emphasis was placed on the pivotal role of counselling, underscoring the imperative for an enhanced counselling capacity to navigate future challenges. ER -