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• W2912275793 abstract "Expanded carrier screening (ECS) aims to inform couples’ reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18–40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant. We evaluated the feasibility of the organizational aspects, GP competence and the content of the pre-test counselling. Participant satisfaction, evaluation of pre-test counselling and degree of IC were measured using a longitudinal survey. We explored GP experiences and their views on future implementation through semi-structured interviews. 130 consultations took place. All participating GPs were assessed by genetic professionals to be competent to conduct pre-test counselling. Most (63/108 (58%)) consultations took place within the planned 20 min (median 20, IQR 18–28). GPs considered couples’ prior knowledge level an important determinant of consultation length. 91% of patients were (very) satisfied with the GP counselling. After pre-test counselling, 231/237(97%) participants had sufficient knowledge and 206/231(88%) had a positive attitude and proceeded with testing. Our pilot demonstrates that offering couple-based ECS through trained and motivated GPs is feasible. Future large-scale implementation requires a well-informed general public and a discussion about appropriate reimbursement for GPs and health care coverage for couples. Providing (more) test information pre-appointment may help reduce average consultation time." @default.
• W2912275793 created "2019-02-21" @default.
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• W2912275793 date "2019-02-11" @default.
• W2912275793 modified "2023-10-18" @default.
• W2912275793 title "Feasibility of couple-based expanded carrier screening offered by general practitioners" @default.
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• W2912275793 doi "https://doi.org/10.1038/s41431-019-0351-3" @default.
• W2912275793 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6462008" @default.
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