Psychosocial implications of uncertainty in genomic testing of children with autism

Chromosomal Microarray Analysis (CMA) is a genome-wide technology that enables identification of genomic alterations, many of which are of uncertain clinical significance.  Clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD), which occurs in approximately 1% of the US population.  Increasingly, families are offered CMA testing, and many receive complex and uncertain results.  In this study we examined the psychosocial implications for parents of children with ASD who received uncertain results from CMA testing.  We collected data using in-depth interviews and self-report questionnaires.    We used purposive sampling to recruit 57 parents, including three subgroups with positive, negative and uncertain results.  This presentation focuses on the uncertain subgroup (n=20).  Analyses included summary statistics and thematic content analysis.  Many participants reported feeling validated by a concrete (though uncertain) genetic finding, and a shift towards viewing the child’s condition as more permanent.  Both positive and negative psychosocial effects were reported by approximately equal numbers of parents.  Positive implications included acceptance of their child’s disorder, adjustment of expectations, and gaining access to new information about the disorder.  Negative  outcomes included concern for the medical and social futures of the child tested and his/her family members, and increased tensions between parents surrounding blame and guilt for passing on the genetic change that may have caused their child’s ASD.  Needs were identified for information and follow-up with healthcare providers.  Negative effects were reported more often by those who had received results more recently, suggesting a need for support soon after results are received.