Department of Health, Ethics & Society, CAPHRI-School for Public Health and Primary Care and GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Department of Biomedical Data Sciences, Leiden University Medical Centre, Leiden, The Netherlands.
Eur J Hum Genet. 2023 Nov;31(11):1317-1322. doi: 10.1038/s41431-023-01402-z. Epub 2023 Jun 6.
Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children of consanguineous couples have a higher-than-average risk of manifesting autosomal recessive disorders. This study aims to contribute to the responsible implementation of ECS for consanguineous couples. Seven semi-structured interviews were conducted with consanguineous couples who had recently participated in Whole Exome Sequencing (WES)-based ECS at Maastricht University Medical Center (MUMC+), the Netherlands. The test offered at MUMC+ covers a large number of disease-related genes (~2000), including severe, relatively mild, early- and late-onset disorders. Respondents were interviewed about their views on, and experiences with participation in WES-based ECS. Overall, participation was experienced as worthwhile: it enabled respondents to make informed choices with regard to family planning as well as to take on the presumed parental responsibility to deliver their children as healthy as possible. Furthermore, our findings suggest that (1) true consent for having this test requires timely information about the possible implications of a positive test result for specific categories of findings, as well as about the success rates of the available reproductive options; (2) the clinical geneticist can play a pivotal part in informing participants as well as providing clear information about autosomal recessive inheritance; (3) more research is needed to explore what type of genetic risk information is considered 'meaningful' by participants and actually contributes to reproductive decision-making.
扩展携带者筛查（ECS）同时涉及对多种隐性疾病的筛查，允许对个人或夫妇进行测试，而无需考虑其血统或地理起源。近亲结婚夫妇的子女表现出自体隐性疾病的风险高于平均水平。本研究旨在为近亲结婚夫妇负责任地实施 ECS 做出贡献。对最近在荷兰马斯特里赫特大学医学中心（MUMC+）参与基于全外显子组测序（WES）的 ECS 的近亲结婚夫妇进行了七次半结构化访谈。MUMC+ 提供的测试涵盖了大量与疾病相关的基因（~2000 个），包括严重、相对轻微、早发和晚发疾病。受访者被问及他们对基于 WES 的 ECS 的看法和参与经验。总体而言，参与是值得的：它使受访者能够就家庭计划做出明智的选择，并承担起假定的父母责任，尽可能让他们的孩子健康。此外，我们的研究结果表明：(1) 进行此项测试的真正同意需要及时了解阳性测试结果对特定类别发现的可能影响，以及可用生殖选择的成功率；(2) 临床遗传学家可以在向参与者提供信息以及清楚地说明常染色体隐性遗传方面发挥关键作用；(3) 需要进一步研究来探索参与者认为哪种类型的遗传风险信息是“有意义的”，并实际有助于生殖决策。
