Van Steijvoort Eva, Devolder Heleen, Geysen Inne, Van Epperzeel Silke, Peeters Hilde, Peeraer Karen, Matthijs Gert, Borry Pascal
Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium.
Department of Human Genetics, KU Leuven, Leuven, Belgium.
Eur J Hum Genet. 2022 Nov;30(11):1255-1261. doi: 10.1038/s41431-022-01082-1. Epub 2022 Mar 18.
Through carrier screening couples at-risk of conceiving a child with an autosomal recessive or X-linked condition can be identified prior to conception. The aim of this study was to assess knowledge, attitudes and preferences regarding reproductive genetic carrier screening (RGCS) among reproductive-aged men and women in Flanders (Belgium). Women and men of reproductive age visiting their pharmacist were invited to answer a self-administered questionnaire. Prior to filling in the questionnaire, participants were asked to read an information leaflet explaining some key concepts about RGCS. Our sample included 387 individuals of reproductive age, of which 68.5% were female and 31.5% were male. Most of the participants were below 34 years old (72.9%), didn't have children (68.6%) and were currently in a relationship (69.1%). Offering RGCS to couples that want to have children was found acceptable by 86% of participants. However, fewer participants would consider RGCS for themselves in the future (61%). We observed a positive correlation between attitude score/knowledge score and the intention to have RGCS. Half of the participants (50.9%) preferred the disclosure of individual test results. Most of participants indicated that RGCS should be offered through the gynecologist (81.1%), followed by the GP (71.5%) and the Centre for Human Genetics (64.8%). About 68.9% of participants were willing to pay out-of-pocket for an RGCS test. We recommend that RGCS should ideally be implemented through a tailored implementation strategy whereby individual needs and preferences can be taken into account.
通过携带者筛查，可以在受孕前识别出有生育常染色体隐性或X连锁疾病患儿风险的夫妇。本研究的目的是评估比利时弗拉芒地区育龄男女对生殖遗传携带者筛查（RGCS）的知识、态度和偏好。邀请到药剂师处就诊的育龄男女填写一份自填式问卷。在填写问卷之前，要求参与者阅读一份解释RGCS一些关键概念的信息传单。我们的样本包括387名育龄个体，其中68.5%为女性，31.5%为男性。大多数参与者年龄在34岁以下（72.9%），没有孩子（68.6%），目前处于恋爱关系中（69.1%）。86%的参与者认为向想要孩子的夫妇提供RGCS是可以接受的。然而，未来会考虑为自己进行RGCS的参与者较少（61%）。我们观察到态度得分/知识得分与进行RGCS的意愿之间存在正相关。一半的参与者（50.9%）倾向于公开个人检测结果。大多数参与者表示，RGCS应由妇科医生提供（81.1%），其次是全科医生（71.5%）和人类遗传学中心（64.8%）。约68.9%的参与者愿意自掏腰包支付RGCS检测费用。我们建议，理想情况下，RGCS应通过一种量身定制的实施策略来实施，以便能够考虑到个人需求和偏好。
