Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Meibergdreef 9, Amsterdam, Netherlands.
Amsterdam UMC, University of Amsterdam, Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, Netherlands.
Mol Genet Metab. 2019 Jan;126(1):14-22. doi: 10.1016/j.ymgme.2018.12.004. Epub 2018 Dec 10.
A substantial number of severely debilitating and often ultimately fatal inborn errors of metabolism (IEMs) still lack an effective disease-modifying treatment. Informing couples before a pregnancy about an increased risk of having a child with an inherited disorder is now feasible by preconception expanded carrier screening (ECS). While knowledge about carrier status enhances reproductive autonomy, it may also result in ethical dilemmas. The purpose of this study was to assess the attitudes of the general Dutch population towards preconception ECS and to investigate which factors influence these attitudes.
Data collection was carried out in collaboration with a market research agency. In total, 1188 Dutch individuals of reproductive age (18-45 years) were invited by email to complete an online ECS questionnaire in 2016. Prior to the start of the questionnaire, a written explanation of the concepts of autosomal recessive (AR) inheritance, carrier status and ECS was presented.
The questionnaire was completed by 781 individuals (65.7%), of whom 31% indicated they would take an ECS test themselves. In addition, 55% agreed that ECS should be offered to all prospective parents. The most frequently selected argument in favor of ECS (47.2%) was that participants want to spare a child from a life with a severe hereditary disorder. The reason most often mentioned not to participate in ECS (48%) was that participants reported not having a hereditary disorder in the family. The majority preferred receiving individual test results above a couple-based disclosure method in which participants receive the carrier status results only when they are a carrier couple of the same disorder. Participants with religious beliefs were less likely to participate in ECS, whereas participants who were considering a (future) pregnancy were more likely to participate.
Our study demonstrates an overall positive attitude among participants of reproductive age in the general Dutch population towards preconception ECS. A striking misconception is that many of the participants believe that ECS is of interest only for those with a positive family history of one of the hereditary disorders. This finding emphasizes the importance of providing understandable, balanced information and education to the general public regarding the concepts of inheritance when presenting the option of carrier screening. Our results provide valuable insights that can be used in the debate about the responsible implementation of preconception ECS for AR disorders, including IEMs.
大量严重的、常常是致命的先天性代谢缺陷（IEMs）仍然缺乏有效的疾病修正治疗。通过孕前扩展携带者筛查（ECS），夫妇在怀孕前了解生育遗传疾病患儿的风险现在已经成为可能。虽然对携带者状态的了解增强了生殖自主权，但也可能导致伦理困境。本研究旨在评估荷兰普通人群对孕前 ECS 的态度，并探讨哪些因素影响这些态度。
数据收集与一家市场研究机构合作进行。2016 年，通过电子邮件邀请 1188 名处于生育年龄（18-45 岁）的荷兰人完成一项在线 ECS 问卷。在开始问卷之前，先呈现关于常染色体隐性（AR）遗传、携带者状态和 ECS 的书面解释。
有 781 人（65.7%）完成了问卷，其中 31%表示他们自己会接受 ECS 测试。此外，55%的人同意应该向所有准父母提供 ECS。选择支持 ECS 的最常见理由（47.2%）是参与者希望孩子免受严重遗传性疾病的困扰。不参与 ECS 的最常见理由（48%）是参与者报告自己的家族中没有遗传性疾病。大多数人更喜欢收到个体测试结果，而不是夫妇共同披露的方法，在这种方法中，只有当参与者是同一疾病的携带者夫妇时，他们才会收到携带者状态结果。有宗教信仰的参与者不太可能参与 ECS，而考虑怀孕的参与者则更有可能参与。
我们的研究表明，荷兰普通人群中处于生育年龄的参与者对孕前 ECS 的总体态度是积极的。一个引人注目的误解是，许多参与者认为 ECS 只对有某种遗传性疾病阳性家族史的人有兴趣。这一发现强调了在提出携带者筛查的选择时，向公众提供关于遗传概念的可理解、平衡的信息和教育的重要性。我们的研究结果提供了有价值的见解，可用于负责任地实施 AR 疾病的孕前 ECS，包括 IEMs。
