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

Summary

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.

Conditions

• Epilepsy; Seizure
• Neuromuscular Diseases
• Brain Malformation
• Intellectual Disability
• Autism Spectrum Disorder
• Hypotonia
• Inborn Errors of Metabolism
• Movement Disorders
• Genetic Disease
• Development Delay
• Chromosome Abnormality
• Hearing Loss
• Dysmorphic Features
• Skeletal Dysplasia
• Congenital Abnormality
• Microcephaly
• Macrocephaly

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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI)

  collaborator NIH

• East Carolina University

  collaborator OTHER

• Mission Health System, Asheville, NC

  collaborator OTHER

• University of North Carolina, Chapel Hill

  lead OTHER

Principal Investigators

• Jeannette T Bensen, Ph.D · University of North Carolina, Chapel Hill

• Jonathan S Berg, MD, PhD · University of North Carolina, Chapel Hill

Study Design

Allocation

RANDOMIZED

Purpose

DIAGNOSTIC

Masking

DOUBLE

Model

PARALLEL

Eligibility

Min Age

0 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-09-28

Primary Completion

2023-09-08

Completion

2024-09-08

FDA Device

Yes

Countries

• United States

Study Locations