Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Prenat Diagn. 2022 Aug;42(9):1201-1210. doi: 10.1002/pd.6200. Epub 2022 Jul 9.
Faster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population-based implementation regardless of ancestry or family history. Little is known, however, about the attitudes regarding population-based carrier screening among families with genetic disorders. This study assessed views among parents and patients with a recessive disorder and parents of children with Down syndrome (DS) on expanded carrier screening (ECS).
In total, 85 patients with various recessive disorders, 110 parents of a child with a recessive disorder and 89 parents of a child with DS participated in an online survey in the Netherlands. Severity of recessive disorders was classified as mild/moderate or severe/profound.
The majority of the (parents of) patients with a recessive disorder had a positive attitude towards population-based ECS, including screening for their own or their child's disorder. DS parents were significantly less positive towards ECS. Subgroup analyses showed that the severity of the disorder, rather than being a patient or parent, influences the attitudes, beliefs and intention to participate in ECS.
Our findings have important implications for future implementation initiatives as they demonstrate the different perspectives from people with experiential knowledge with genetic disorders.
更快、更廉价的下一代测序技术使隐性疾病的携带者筛查得以扩展，这使得无论种族或家族史如何，都有可能实现基于人群的实施。然而，对于具有遗传疾病的家庭而言，基于人群的携带者筛查的态度却鲜为人知。本研究评估了具有隐性疾病的父母和患者以及唐氏综合征（DS）患儿的父母对扩展携带者筛查（ECS）的看法。
共有 85 名患有各种隐性疾病的患者、110 名患有隐性疾病儿童的父母和 89 名患有 DS 儿童的父母在荷兰参加了在线调查。隐性疾病的严重程度分为轻度/中度或重度/重度。
大多数（父母）隐性疾病患者对基于人群的 ECS 持积极态度，包括筛查自己或孩子的疾病。DS 父母对 ECS 的积极性明显较低。亚组分析表明，疾病的严重程度而不是患者或父母，影响了对 ECS 的态度、信念和参与意愿。
我们的研究结果对未来的实施计划具有重要意义，因为它们展示了具有遗传疾病经验知识的人之间的不同观点。
