The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
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Initial Patient Pediatric Quality of Life (Peds QL) Score
Timeframe: 4-6 weeks prior to clinic visit 1
Final Patient Pediatric Quality of Life (Peds QL) Score
Timeframe: 6 months after return of results
Initial Caregiver QoL Score
Timeframe: 4-6 weeks prior to clinic visit 1
Intermediate Caregiver QoL Score
Timeframe: 2 weeks after return of results
Final Caregiver QoL Score
Timeframe: 6 months after return of results
Post-Clinic Visit 1 Mean Patient Centeredness Score
Timeframe: Immediately after clinic 1 day of visit 1
Post-Return of Results Mean Patient Centeredness Score
Timeframe: 2 weeks after return of results
Number of Questions Caregiver Asks in Clinic Visit 1
Timeframe: During clinic 1 day of visit 1
Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results
Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results
Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results
Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of Long-term Care Days Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results
Number of ER Visits Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of ER Visits Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results
Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results
Timeframe: 1 year prior to return of results
Number of Specialists Visits Among Child Participants 1 Year After Return of Results
Timeframe: 1 year after return of results