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

项目摘要 通过基于测序的基因检测进行基于人群的新生儿筛查，以预测自闭症风险 出现的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 这也引起了关于这些信息对父母的影响的问题。PROGRESS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 患上自闭症的几率在研究基因影响的丰富经验的研究人员的领导下， 信息，该项目将收集经验数据，以描述遗传因素的直接影响， 信息，并了解其影响如何在儿童的头两年的过程中展开 生活我们将调查那些得知他们的新生儿在遗传上容易患自闭症的父母， 他们接收这些遗传信息，将他们的反应与孩子没有被遗传的父母的反应进行比较， 被确定为有自闭症遗传风险的人，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。我们还将研究这些效应的稳定性， 在初次调查完成后12个月再次调查父母。此外，我们将研究如何 最终接受自闭症诊断的颜色的影响接受遗传的回顾性评估， 通过调查来自已确定遗传风险（IGR）组的父母， 孩子们在24个月大时接受和没有接受自闭症诊断。我们将探讨父母的反应， 使用定性访谈进一步深入了解接收遗传信息的影响和价值。 将对IGR组儿童的父母进行采访，探讨他们的 情绪反应，对孩子生活期望的影响，对育儿行为的影响，以及对 关于将来是否以及如何向父母提供这些信息。其他访谈 在这项研究中，孩子被诊断为自闭症的父母将探讨他们对早期自闭症的看法。 遗传风险信息。项目2将是该中心的一个组成部分，并将与 项目1（将确定IGR新生儿队列）和项目3（项目2将与项目3共享数据， 研究定量心理社会措施和观察到的亲子互动之间的关系）， 以及评估核心（将确定其子女符合自闭症标准的家庭， 合作进行诊断后调查）、统计和计算分析核心（将协助 定量数据分析），以及传播和外联核心（将在 将项目2的研究结果及其社会、生物伦理和政策影响传达给相关人员， 利益攸关方）。项目2的发现将使临床医生能够预测为父母提供 新生儿的遗传信息有关自闭症的易感性，为更有效的 沟通，减轻负面影响，增强积极适应。

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.