• Family practice · Aug 2024

    Primary care professionals' views on population-based expanded carrier screening: an online focus group study.

    • Lieke M van den Heuvel, Anke J Woudstra, Sanne van der Hout, Suze Jans, Tjerk Wiersma, Wybo Dondorp, Erwin Birnie, Phillis Lakeman, Lidewij Henneman, Mirjam Plantinga, and Irene M van Langen.
    • Department of Genetics, University Medical Centre Groningen/University of Groningen, Groningen, The Netherlands.
    • Fam Pract. 2024 Aug 14; 41 (4): 571578571-578.

    BackgroundPopulation-based expanded carrier screening (ECS) involves screening for multiple recessive diseases offered to all couples considering a pregnancy or during pregnancy. Previous research indicates that in some countries primary care professionals are perceived as suitable providers for ECS. However, little is known about their perspectives. We therefore aimed to explore primary care professionals' views on population-based ECS.MethodsFour online focus groups with 14 general practitioners (GPs) and 16 community midwives were conducted in the Netherlands.ResultsOur findings highlight various perspectives on the desirability of population-based ECS. Participants agreed that ECS could enhance reproductive autonomy and thereby prevent suffering of the child and/or parents. However, they also raised several ethical, societal, and psychological concerns, including a tendency towards a perfect society, stigmatization, unequal access to screening and negative psychosocial consequences. Participants believed that provision of population-based ECS would be feasible if prerequisites regarding training and reimbursement for providers would be fulfilled. most GPs considered themselves less suitable or capable of providing ECS, in contrast to midwives who did consider themselves suitable. Nevertheless, participants believed that, if implemented, ECS should be offered in primary care or by public health services rather than as hospital-based specialized care, because they believed a primary care ECS offer increases access in terms of time and location.ConclusionsWhile participants believed that an ECS offer would be feasible, they questioned its desirability and priority. Studies on the desirability and feasibility of population-based ECS offered in primary care or public health settings are needed.© The Author(s) 2023. Published by Oxford University Press.

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