Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

BACKGROUND AND OBJECTIVES: Genomic sequencing (GS) is increasingly used for diagnostic evaluation, yet follow-up care is not well understood. We assessed clinicians’ recommendations after GS, parent-reported follow-up, and actions parents initiated in response to learning their child’s GS results. METHODS: We surveyed parents of children who received GS through the Clinical Sequencing Evidence Generating Research consortium ~5 to 7 months after return of results. We compared the proportion of parents who reported discussing their child’s result with a clinician, clinicians’ recommendations, and parents’ follow-up actions by GS result type using v² tests. RESULTS: A total of 1188 respondents completed survey measures on recommended medical actions (n 5 1187) and/or parent-initiated actions (n 5 913). Most parents who completed recommended medical actions questions (n 5 833, 70.3%) reported having discussed their child’s GS results with clinicians. Clinicians made recommendations to change current care for patients with positive GS results (n 5 79, 39.1%) more frequently than for those with inconclusive (n 5 31, 12.4%) or negative results (n 5 44, 11.9%; P < .001). Many parents discussed (n 5 152 completed, n 5 135 planned) implications of GS results for future pregnancies with a clinician. Aside from clinical recommendations, 13.0% (n 5 119) of parents initiated changes to their child’s health or lifestyle. CONCLUSIONS: In diverse pediatric clinical contexts, GS results can lead to recommendations for follow-up care, but they likely do not prompt large increases in the quantity of care received.