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Published on: August 17, 2022
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing
Hadley Stevens Smith1,2, Bart S Ferket3,4, Bruce D Gelb4
1Center for Medical Ethics and Health Policy.
Insights
Genomic sequencing (GS) results in clinical care can lead to follow-up recommendations. However, these results do not significantly increase the overall amount of medical care received by children.
Area of Science:
- Genomic medicine
- Pediatric diagnostics
- Clinical genetics
Background:
- Genomic sequencing (GS) is increasingly utilized for diagnosing children.
- Understanding the follow-up care and actions prompted by GS results is crucial.
- This study investigates clinician recommendations and parent-reported actions post-GS.
Purpose of the Study:
- To assess clinicians' recommendations following pediatric genomic sequencing.
- To evaluate parent-reported follow-up care and initiated actions after receiving GS results.
- To compare follow-up care based on the type of genomic sequencing result.
Main Methods:
- Survey of parents whose children received GS through the Clinical Sequencing Evidence Generating Research consortium.
- Data collected approximately 5 to 7 months after results were returned.
- Comparison of clinician recommendations and parent actions using chi-squared tests based on GS result type.
Main Results:
- Most parents (70.3%) discussed GS results with clinicians.
- Positive GS results led to more frequent recommendations for care changes (39.1%) compared to inconclusive (12.4%) or negative results (11.9%).
- 13.0% of parents initiated health or lifestyle changes for their child outside of direct clinical recommendations.
Conclusions:
- Genomic sequencing results can inform follow-up care recommendations in pediatric settings.
- While recommendations are made, GS results may not substantially increase the volume of care provided.
- Further research is needed to optimize the integration of GS findings into ongoing pediatric care.
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-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.
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