Project 2: Psychosocial impact of autism genetic risk information on parents

项目总结 通过基于测序的基因测试进行基于人群的新生儿筛查以预测以前患自闭症的风险 出现症状可能会使家庭受益，例如，通过促进早期评估和干预，但前景 这也引发了人们对这些信息对父母的影响的质疑。进度中心项目2将检查 告知父母新生儿遗传风险升高的行为和心理社会影响 患上自闭症的风险。由有丰富研究经验的研究人员领导，研究基因的影响 信息，该项目将收集经验数据，以表征基因的直接影响 信息和了解其影响在儿童的头两年过程中如何展开 生活。我们将调查那些得知他们的新生儿在遗传上易患自闭症的父母。 他们接收这种遗传信息，并将他们的反应与那些没有孩子的父母的反应进行比较 被确定为自闭症的遗传风险，以评估遗传信息对父母情绪的影响， 关系、人生计划、意图和期望。我们还将通过以下方式调查这些影响的稳定性 在第一次调查完成12个月后对父母进行复查。此外，我们还将研究如何 最终接受自闭症诊断的颜色回溯性评估接受基因治疗的效果 通过调查已识别的遗传风险(IGR)组的父母在新生儿期的信息 儿童在24个月大时被诊断为自闭症，也没有被诊断为自闭症。我们将探索父母的反应 通过定性访谈进一步深入了解获得遗传信息的影响和价值。 访谈将对来自IGR小组的儿童的父母进行不同的抽样，探索他们的 情绪反应，对孩子生活期望的影响，对父母行为的影响，以及观点 关于将来是否应该以及如何将这些信息传递给父母。其他采访内容： 孩子在研究期间被诊断为自闭症的父母将探讨他们对早产的看法 收到遗传风险信息。项目2将是中心不可分割的一部分，并将与 项目1(将确定IGR新生儿队列)和项目3(项目2将与其共享数据 研究量化心理社会措施与观察到的亲子互动之间的关系)，如 以及评估核心(该中心将确定其子女符合自闭症标准的家庭和 合作进行诊断后调查)、统计和计算分析核心(将协助 量化数据分析)，以及传播和外联核心(将在 将S的研究成果及其对社会、生物伦理和政策的影响传达给相关人员 利益相关者)。项目2：S的研究结果将使临床医生能够预测为父母提供服务的后果 与自闭症易感性有关的基因信息的新生儿，为更有效地进行奠定了基础 沟通，减轻负面影响，加强积极适应。

PROJECT SUMMARY Population-based newborn screening through sequencing-based genetic testing to predict risk of autism before symptoms emerge may benefit families, e.g., by facilitating early assessment and intervention, but the prospect also raises questions about the effects of this information on parents. PROGRESS Center Project 2 will examine the behavioral and psychosocial impact of informing parents about their newborn’s elevated genetic risk of developing autism. Led by researchers with extensive experience investigating the impact of genetic information, the project will collect empirical data both to characterize the immediate effects of the genetic information and to understand how its impact unfolds over the course of the first two years of the child’s life. We will survey parents who learn that their newborn is genetically susceptible to autism immediately after they receive this genetic information, comparing their responses to those of parents whose children were not identified as being at genetic risk of autism to assess the impact of the genetic information on parents’ emotions, relationships, life plans, intentions, and expectations. We will also investigate the stability of these effects by resurveying the parents 12 months after completion of the initial survey. In addition, we will examine how ultimately receiving an autism diagnosis colors retrospective evaluations of the effects of receiving the genetic information during the newborn period by surveying parents from the identified genetic risk (IGR) group whose children did and did not receive an autism diagnosis at 24 months of age. We will explore parental reactions in further depth using qualitative interviews to understand the impact and value of receiving genetic information. Interviews will be conducted with a diverse sample of parents of children from the IGR group, exploring their emotional reactions, impact on expectations about their children’s lives, impact on parenting behavior, and views about whether and how such information should be delivered to parents in the future. Additional interviews with parents whose children receive an autism diagnosis during the study will explore their views on having earlier received genetic risk information. Project 2 will be an integral part of the Center and will be closely linked to Project 1 (which will identify the cohort of IGR newborns) and Project 3 (with which Project 2 will share data to study the relationship between quantitative psychosocial measures and observed parent-child interactions), as well as with the Assessment Core (which will identify families whose children meet criteria for autism and collaborate on post-diagnosis surveys), the Statistical and Computational Analysis Core (which will assist in the analysis of quantitative data), and the Dissemination and Outreach Core (which will collaborate on the communication of Project 2’s findings and their social, bioethical, and policy implications to relevant stakeholders). Project 2’s findings will allow clinicians to anticipate the consequences of providing parents of newborns with genetic information regarding susceptibility to autism, setting the stage for more effective communication, mitigation of negative effects, and enhancement of positive adaptations.