Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
Pediatrics
; 152(2)2023 08 01.
Article
in En
| MEDLINE
| ID: mdl-37470118
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 â¼5 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-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.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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parents
/
Life Style
Type of study:
Guideline
Limits:
Child
/
Humans
Language:
En
Journal:
Pediatrics
Year:
2023
Document type:
Article