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.
Age range
0 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
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