Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

• Published in: Pediatrics (Evanston) 2023-08, Vol.152 (2), p.1
• Main Authors: Smith, Hadley Stevens, Ferket, Bart S, Gelb, Bruce D, Hindorff, Lucia, Ferar, Kathleen D, Norton, Mary E, Sahin-Hodoglugil, Nuriye, Slavotinek, Anne, Lich, Kristen Hasmiller, Berg, Jonathan S, Russell, Heidi V
• Format: Article
• Language: English
• Subjects: Child; Genomics; Humans; Life Style; Parents; Parents & parenting; Pediatrics; Surveys and Questionnaires
• ISSN: 0031-4005; 1098-4275; 1098-4275
• DOI: 10.1542/peds.2022-060318

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. 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 χ2 tests. A total of 1188 respondents completed survey measures on recommended medical actions (n = 1187) and/or parent-initiated actions (n = 913). Most parents who completed recommended medical actions questions (n = 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 = 79, 39.1%) more frequently than for those with inconclusive (n = 31, 12.4%) or negative results (n = 44, 11.9%; P < .001). Many parents discussed (n = 152 completed, n = 135 planned) implications of GS results for future pregnancies with a clinician. Aside from clinical recommendations, 13.0% (n = 119) of parents initiated changes to their child's health or lifestyle. 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.