Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

Limited evidence evaluates parents’ perceptions of their child’s clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap. Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure. We assessed outcomes’ associations with child- and parent-related factors: child age; type of GS finding; and parent health literacy, numeracy, and education. 1763 parents completed surveys; 83% met “underserved” criteria based on race, ethnicity, and risk factors for barriers to access. We observed high perceived understanding and personal utility and low test-related distress. Outcomes were associated with the type of GS finding; parents of children with a pathogenic or likely pathogenic finding endorsed higher personal utility and more test-related distress than those whose child had a variant of uncertain significance (VUS) or normal finding. Personal utility was higher in parents who met criteria for “underserved.” Our findings shed light on correlates of parents’ cognitive and emotional responses to their child’s GS findings and emphasize the need for tailored support in disclosure discussions.