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NIHEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT

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

Active
Institution
COLUMBIA UNIVERSITY HEALTH SCIENCES, NY
Principal investigator
Paul Stuart Appelbaum
Funding
$175K
Duration
2022–2027
Open portfolio

Moonbase score

Still being scored

Abstract

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.

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EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENTP50Special Emphasis Panel[ZRG1-IDIB-T]parentsautismgenetic informationgenetic riskidentified geneticparents childrennewborninformation project

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