North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Last updated on July 2021Recruitment
- Recruitment Status
- Enrolling by invitation
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Dysmorphic Features
- Autism Spectrum Disorder
- Brain Malformation
- Chromosome Abnormality
- Congenital Abnormality
- Movement Disorders
- Development Delay
- Epilepsy; Seizure
- Genetic Disease
- Neuromuscular Diseases
- Hearing Loss
- Intellectual Disability
- Skeletal Dysplasia
- Hypotonia
- Microcephaly
- Inborn Errors of Metabolism
- Macrocephaly
- Type
- Interventional
- Phase
- Not Applicable
- Design
- Allocation: RandomizedIntervention Model: Parallel AssignmentMasking: Double (Care Provider, Outcomes Assessor)Masking Description: The study coordinator will assign the first randomization to pre-visit preparation arm and care providers will not be told of the patient's pre-visit preparatory randomization arm prior to the first usual care visit. Randomization to exome sequencing will be performed after the first usual care visit by the study coordinator. Investigators will receive de-identified coded data and thus will not be able to link a patient name to an intervention arm. Some analyses will require individual-level randomization arm status to allow for comparison of parent questionnaire responses or health outcomes by arm - a major focus of this study. All interviewers and medical records staff conducting telephone surveys and/or medical records abstraction for clinical data will be blinded to the participants randomization status. Access to this information will be blocked in the electronic patient tracking status by study role.Primary Purpose: Diagnostic
Participation Requirements
- Age
- Younger than 125 years
- Gender
- Both males and females
Description
The NCGENES 2 study is part of the "Clinical Sequencing Evidence-Generating Research (CSER2)" - Clinical Sites with Enhanced Diversity (U01), and brings together interdisciplinary experts from across North Carolina to address questions critical to the translation of genomic medicine to the care of p...
The NCGENES 2 study is part of the "Clinical Sequencing Evidence-Generating Research (CSER2)" - Clinical Sites with Enhanced Diversity (U01), and brings together interdisciplinary experts from across North Carolina to address questions critical to the translation of genomic medicine to the care of patients with suspected genetic disorders. In this renewal of the initial NCGENES study, NCGENES 2 will carry out a clinical trial of exome sequencing as a diagnostic test to answer the next set of questions vital to making genome-scale sequencing a routine clinical tool. The study population will be drawn from a state-wide network of Clinical Genetics and Pediatric Neurology clinics -- clinical domains in which patients are enriched for phenotypes caused by heterogeneous genetic conditions. Exome sequencing and genome sequencing (ES/GS) are efficient means of establishing a molecular diagnosis in these populations, with yields of positive or possible diagnostic results in at least 30% of patients examined based on findings from NCGENES and other work. Evidence will be generated regarding the clinical utility of ES/GS using a prospective randomized controlled trial that compares usual care plus exome sequencing to usual care. Patient-reported data, electronic health records data, and administrative claims data will be used to evaluate defined health outcomes, in collaboration with experts in health economics and health services research, to address pressing questions about the utility of exome sequencing. Furthermore, an examination of communication between patients and physicians, and between physicians and laboratories, and how these critical interactions affect the utility of genomic sequencing will be conducted. A second, nested randomized trial (crossed with exome sequencing in a full-factorial design) will be incorporated to test the hypothesis that a theory-based, multi-component pre-clinic preparation intervention for patients will improve patient-centered outcomes. An "embedded Ethical, Legal, and Social Implications (ELSI)" component will provide feedback to providers regarding communication discrepancies to iteratively improve care. Finally, the challenges of integrating clinical data and genomic information across a state-wide network of sites and examining different models of interaction between genomic clinicians and molecular diagnostic laboratorians will be explored.
Tracking Information
- NCT #
- NCT03548779
- Collaborators
- National Human Genome Research Institute (NHGRI)
- East Carolina University
- Mission Health System, Asheville, NC
- Investigators
- Study Director: Jeannette T Bensen, Ph.D University of North Carolina, Chapel Hill Principal Investigator: Jonathan S Berg, MD, PhD University of North Carolina, Chapel Hill
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