Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

Abstract

Objectives: The increasing integration of clinical genome sequencing (GS) into pediatric care has the potential to improve diagnostic understanding for children with neurodevelopmental disorders (NDDs), yet questions remain regarding how families interpret and experience genomic information. This study examined caregivers' decision-making regarding GS, their understanding and emotional responses to genetic results, and the perceived significance and utility of GS among families of children with NDDs.

Method: Participants (N = 12) were self-identified Black or Hispanic/Latino(a) caregivers of children with NDDs (ages 8-21 years) recruited from the Pediatric Developmental Clinic at New York City Health and Hospitals/Lincoln who underwent GS through the TeleKidSeq study. Semi-structured interviews were conducted approximately two years after results disclosure and analyzed using iterative thematic analysis. Genetic testing results included four positive, six uncertain, and two negative findings.

Results: Caregivers described provider recommendations, trust in healthcare relationships, and the desire for diagnostic clarity as important factors influencing decisions to pursue GS. The meaning and impact of GS varied by result type. Caregivers of children with positive results described increased understanding of their child's condition, reduced uncertainty, validation of caregiver experiences, and changes in parenting approaches and care planning. Uncertain results were often associated with disappointment and continued uncertainty, and some caregivers had difficulty understanding the implications of uncertain findings and the potential for future reinterpretation. Negative results provided reassurance and clarity for some families, although some caregivers misunderstood negative findings as excluding a genetic contribution.

Conclusions: This study contributes to the literature on the psychosocial impact and utility of GS in pediatric NDD populations. Our findings demonstrate the importance of supporting families throughout the genomic testing process, including decision-making before testing and interpretation of results afterward. Clinical care models that integrate developmental pediatrics, genetics, and behavioral health may help families navigate complex genomic information and ensure that results are meaningfully incorporated into ongoing care.