• Dana B Gal, Natalie Deuitch, Sandra Soo Jin Lee, Rosalie Tang Simon, and Danton S Char.
• Division of Pediatric Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA.
• Pediatr Crit Care Me. 2021 Aug 1; 22 (8): e419e426e419-e426.

ObjectivesThrough improving diagnostics and prognostics genomic sequencing promises to significantly impact clinical decisions for children with critical cardiac disease. Little is known about how families of children with critical cardiac disease perceive the impact of genomic sequencing on clinical care choices.DesignQualitative interview study.SettingA high-volume, tertiary pediatric heart center.SubjectsFamilies of children with critical cardiac disease.InterventionsNone.Measurements And Main ResultsThematic analysis of interview response content. Thirty-five families were interviewed. Three themes emerged: 1) benefits versus challenges of having genomic sequencing results, and 2) fears of clinical applications of genomic sequencing, and 3) nonclinical fears related to genomic sequencing. Participants struggled with perceived uses of genomic sequencing-derived knowledge. They described comfort in foreknowledge of their child's likely disease course but articulated significant apprehension around participating in care decisions with limited knowledge of genomic sequencing, genomic sequencing uses to inform clinical resource rationing decisions, and genomic sequencing uses by third parties impacting financial pressures families experience caring for a child with critical cardiac disease.ConclusionsFamilies' perceptions of genomic sequencing uses in critical cardiac disease appear to strain their overall trust in the health system. Erosion of trust is concerning because the potential of genomic sequencing in critical cardiac disease will be unrealized if families are unwilling to undergo genomic sequencing, let alone to participate in the ongoing research needed to link genomic sequencing variants to clinical outcomes. Our findings may have implications for genomic sequencing use in children with other critical, high-acuity diseases.Copyright © 2021 by the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

10 keywords...

hide…