North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NACompletedINTERVENTIONAL
Enrollment

548

Participants

Timeline

Start Date

September 28, 2018

Primary Completion Date

September 8, 2023

Study Completion Date

September 8, 2024

Conditions
Epilepsy; SeizureNeuromuscular DiseasesBrain MalformationIntellectual DisabilityAutism Spectrum DisorderHypotoniaInborn Errors of MetabolismMovement DisordersGenetic DiseaseDevelopment DelayChromosome AbnormalityHearing LossDysmorphic FeaturesSkeletal DysplasiaCongenital AbnormalityMicrocephalyMacrocephaly
Interventions
BEHAVIORAL

Pre-visit prep

Patient and provider surveys will be used to measure the impact of pre-visit preparation on the primary outcomes of engagement of participants in the clinical interaction and their view of the interaction as patient-centered, in addition to secondary outcomes that may be affected by this intervention (described above). The study investigators will test the hypothesis that patients will benefit from pre-visit preparation by: (1) rating their clinical encounters as more patient-centered and (2) asking more questions during their clinical encounters.

DIAGNOSTIC_TEST

usual care + exome seq

Provider surveys will be used to assess impact of exome sequencing on diagnostic thinking and management planning. Health utilization and condition-specific general clinical outcomes will be assessed from health records data.

Trial Locations (3)

27599

University of North Carolina at Chapel Hill, Chapel Hill

27858

East Carolina University, Greenville

28801

Mission Health, Asheville

All Listed Sponsors
collaborator

National Human Genome Research Institute (NHGRI)

NIH

collaborator

East Carolina University

OTHER

collaborator

Mission Health System, Asheville, NC

OTHER

lead

University of North Carolina, Chapel Hill

OTHER

NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 | Biotech Hunter | Biotech Hunter