ABSTRACT
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.
Subject(s)
Genetic Testing , Health Knowledge, Attitudes, Practice , Child , Female , Male , Humans , Adult , Genetic Carrier Screening , Belgium , DisclosureABSTRACT
Aim: Despite a considerable interest in expanded carrier screening (ECS) in the general population, actual uptake of ECS remains low. More insights are needed to better understand the perspectives of reproductive-aged individuals. Materials & methods: Nonpregnant women of reproductive age recruited through public pharmacies throughout Flanders (Belgium) were invited to participate in an online survey. Results: Most participants (63.6%) indicated they would consider ECS for themselves in the future. About one in two participants showed a positive attitude toward ECS. Conclusion: This study reports valuable insights in the perspectives of nonpregnant reproductive-aged women in Flanders (Belgium) regarding ECS that can be used in the ongoing debate on the responsible implementation of ECS.
Lay abstract Previous studies have reported a considerable interest in carrier screening for hereditary conditions among individuals in the general population, but actual uptake remains low. This study examines the perspectives of nonpregnant reproductive-aged women in Flanders (Belgium) regarding expanded carrier screening (ECS) for hereditary conditions to gain more insights in factors that possibly influence the opinions of reproductive-aged women. These insights are crucial to ensure a responsible implementation of ECS within healthcare services and to make sure that future parents are making informed choices when they are presented with the choice to accept or decline ECS. The results of this study can be used by healthcare providers interacting with couples planning a pregnancy to improve pre-/post-test counseling services. Which in turn can help to manage expectations and reduce misconceptions among potential users of ECS.