How parents and community care professionals use a genetic diagnosis to inform care: expanding the concept of utility.

Abstract

Research on genomic testing outcomes for children with neurodevelopmental conditions often emphasizes clinical and personal utility, but rarely considers how a genomic diagnosis impacts care from non-physician community-based professionals such as those in private practice, early intervention, or school settings. Therefore, this study explored how caregivers and community care professionals use a genomic diagnosis to inform care. Semi-structured interviews were conducted with 23 caregivers of children with a genomic diagnosis and 30 community care professionals providing care to the child. Directed and summative content analysis was performed. Reported impacts included (1) improved care provision, (2) informed future planning, (3) enhanced social and community support, (4) enhanced understanding, (5) increased access to therapy-related services and equipment, (6) improved service quality and 5) elevated patient advocacy and engagement. Potential disutility arose from limited diagnostic information, provider knowledge gaps, insurance denials, and provider fear of treating rare conditions. A key neutral/mixed finding was that the diagnosis did not always impact care. Barriers to potential utility included financial burden, confusion about next steps, provider knowledge gaps, and lack of evidence-based guidance for rare diagnoses. Findings highlight that caregivers and community professionals may experience impacts from a genomic diagnosis (positive, negative, or neutral) that are understudied in empirical research, potentially because traditional concepts of utility fail to incorporate these domains. Broadening this conceptual framing could inform empirical research focused on identifying these effects and informing potential interventions. Further work is needed to characterize and quantify genomic test utility and disutility across diverse contexts.