Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

ABSTRACT:

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 χ2 tests.

Results

A total of 1188 respondents completed survey measures on recommended medical actions (n = 1187) and/or parent

SUBMITTER: Smith HS 

PROVIDER: S-EPMC10812387 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature