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



Status:Recruiting
Conditions:Other Indications, Other Indications, Neurology, Neurology, Neurology, Orthopedic, Women's Studies, Women's Studies, Autism
Therapuetic Areas:Neurology, Psychiatry / Psychology, Orthopedics / Podiatry, Other, Reproductive
Healthy:No
Age Range:Any
Updated:10/5/2018
Start Date:September 28, 2018
End Date:May 2021
Contact:Laura V Milko, Ph.D
Email:laura_milko@med.unc.edu
Phone:919-843-2878

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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.

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.

Both children and parents are participants:

Inclusion Criteria:

Parents meeting the following 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:

Parents:

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.
We found this trial at
3
sites
Chapel Hill, North Carolina 27599
(919) 962-2211
Principal Investigator: Jonathan S Berg, MD/Ph.D
Phone: 919-843-1017
University of North Carolina at Chapel Hill Carolina’s vibrant people and programs attest to the...
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Asheville, North Carolina 28801
Principal Investigator: Monica J Basehore, PhD
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Asheville, NC
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1001 E 5th St
Greenville, North Carolina 27858
(252) 328-6131
Principal Investigator: David Collier, MD/PhD
East Carolina University Whether it's meeting the demand for more teachers and healthcare professionals or...
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Greenville, NC
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