K. G. Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway.
NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway.
Eur J Hum Genet. 2022 Oct;30(10):1138-1146. doi: 10.1038/s41431-021-00966-y. Epub 2021 Nov 15.
Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families' preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a 'right not to know'. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children's future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a "right not to know". These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.
在自闭症谱系障碍 (ASD) 中，基因检测的临床相关性正在增加。遗传风险信息可能有助于改善诊断、治疗和家庭计划，但也可能被视为一种负担。了解家庭对遗传风险信息的偏好对于医疗保健专业人员和政策制定者都很重要。我们使用问卷调查了挪威自闭症协会 (N = 1455) 的家长成员对分享 ASD 遗传风险信息和了解未来健康的态度，以及与父母和孩子的特征（如年龄、性别和 ASD 严重程度）的关系。大多数人更喜欢自主决定向谁告知 ASD 的遗传风险（74.4%），少数人支持广泛的家族内遗传风险披露（41.1%）。大多数人同意，了解与未来健康相关的尽可能多的信息是一种义务（58.0%），只有 51.7%的人同意“有权不知道”的原则。在回归模型中，这些态度与对基因检测的益处和危害的看法有关（例如，治疗、家庭计划、对 ASD 病理的理解、保险歧视和家庭冲突）。总之，研究结果表明，大多数父母希望尽可能多地了解与孩子未来健康相关的信息，并保持他们对遗传风险信息的自主权和家族内保密性。近一半的父母不关心“有权不知道”。这些态度可以为基因组精准医学时代的指南和生物伦理学的制定提供信息。
