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

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.

Grant Number: 5P50HD109879-04
NIH Institute/Center: NIH
Principal Investigator: Paul Appelbaum