North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT ID: NCT03548779
Last Updated: 2025-05-13
Study Results
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View full resultsBasic Information
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COMPLETED
NA
548 participants
INTERVENTIONAL
2018-09-28
2024-09-08
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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RANDOMIZED
PARALLEL
DIAGNOSTIC
DOUBLE
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.
Study Groups
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Pre-visit prep / usual care + exome seq
Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment.
Participants will receive usual care and will be offered research exome sequencing.
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.
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.
Pre-visit prep / usual care
Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment.
Participants will receive usual care.
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.
No prep / usual care + exome seq
Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit.
Participants will receive usual care and will be offered research exome sequencing.
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.
No prep / usual care
Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit.
Participants will receive usual care.
No interventions assigned to this group
Interventions
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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.
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.
Eligibility Criteria
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Inclusion Criteria
1. Parent of a child who meets the criteria below
2. At least 18 years old.
3. Must be able to provide informed consent for child and self.
4. Must be fluent in English or Spanish.
Children meeting the following criteria:
1. Infants and children 15 years old or less.
2. Referred for initial evaluation of a possible monogenic disorder OR
3. Seen for evaluation of an undiagnosed disorder in a study-associated clinic.
Exclusion Criteria
1. Younger than 18 years old.
2. Unwilling to complete study surveys and other procedures.
3. Have cognitive or other impairments precluding ability to provide giving informed consent.
4. Not fluent in English or Spanish.
5. Unable to attend all clinic visits
Children:
1. Have a known genetic or non-genetic diagnosis (only referred for counseling or management).
2. Medically unstable.
0 Years
ALL
No
Sponsors
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National Human Genome Research Institute (NHGRI)
NIH
East Carolina University
OTHER
Mission Health System, Asheville, NC
OTHER
University of North Carolina, Chapel Hill
OTHER
Responsible Party
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Principal Investigators
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Jeannette T Bensen, Ph.D
Role: STUDY_DIRECTOR
University of North Carolina, Chapel Hill
Jonathan S Berg, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
University of North Carolina, Chapel Hill
Locations
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Mission Health
Asheville, North Carolina, United States
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
East Carolina University
Greenville, North Carolina, United States
Countries
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References
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Provided Documents
Download supplemental materials such as informed consent forms, study protocols, or participant manuals.
Document Type: Study Protocol
Document Type: Informed Consent Form: 7-14 Assent Form 1 Randomization to Research
Document Type: Informed Consent Form: 7-14 Assent Form 2 Assent to Research
Document Type: Informed Consent Form: 15-17 Assent Form 1 Randomization to Research
Document Type: Informed Consent Form: 15-17 Assent Form 2 Assent to Research
Document Type: Informed Consent Form: Consent Form 1 Randomization to Research
Document Type: Informed Consent Form: Consent Form 2 Assent to Research
Related Links
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Ales M, Luca L, Marija V, Gorazd R, Karin W, Ana B, Alenka H, Peterlin B. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med \[Internet\]. 2016 Mar 31 \[cited 2016 Aug 3\]
Other Identifiers
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17-0816
Identifier Type: -
Identifier Source: org_study_id
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