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Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research
Amy A Blumling1, Cynthia A Prows1, Margaret H Harr2
1Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Insights
Returning medically actionable genomic screening results to pediatric patients led to significant healthcare changes. Most participants with new findings experienced altered medical management, demonstrating the clinical utility of genomic screening.
Area of Science:
- Genomic Medicine
- Pediatric Health
- Clinical Utility
Background:
- The electronic Medical Records and Genomics (eMERGE) Phase III study investigated the clinical utility of returning actionable genomic screening results.
- Focus on autosomal dominant conditions with available interventions in pediatric populations.
Purpose of the Study:
- Assess the clinical utility of returning medically actionable genomic screening results.
- Evaluate pediatric clinical outcomes after returning pathogenic/likely pathogenic (P/LP) variants.
Main Methods:
- Two eMERGE III pediatric sites collected outcome data.
- Assessed changes in medical management at 6 and 12 months post-return of results (RoR).
Main Results:
- Returned P/LP results to 29 participants; 23 had previously unknown results.
- Of 18 participants with novel results, 77.8% experienced a healthcare change post-RoR.
- Cascade testing occurred in 43.5% of participants with known results.
Conclusions:
- Common outcomes included imaging, lab testing, and health behavior recommendations.
- Significant healthcare changes observed in 77.8% of pediatric patients within 6 months.
- Demonstrated impact of genomic screening result return on pediatric healthcare.
Purpose:
The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective interventions.
Methods:
The two eMERGE III pediatric sites collected outcome data and assessed changes in medical management at 6 and 12 months.
Results:
We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%).
Conclusions:
The most common outcomes post-RoR included imaging/laboratory testing and health behavior recommendations. A change in healthcare was documented in 77.8% of those receiving results by 6 months. Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations.
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