Clinical trial · Interventional
NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing
NCT01969370CI-TRIAL-00027336NCGENEScompletedN/AClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. This sub-project is investigating benefits and harms of providing WES diagnostic and different types of incidental findings to adult patients and parents of pediatric patients who undergo WES because they have symptoms suggesting genetic disease.
Conditions
Conditions (5)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Cardiovascular Disease | — | UNRESOLVED | — |
| Congenital Abnormalities | — | UNRESOLVED | — |
| Hearing Loss | — | UNRESOLVED | — |
| Neurologic Dysfunction | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Experimental | Behavioral | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- type
- EXPERIMENTAL
- label
- Experimental
- description
- Option to request non-medically actionable incidental information (after receiving education about them)
- interventionNames
- Behavioral: Experimental
- type
- NO_INTERVENTION
- label
- Control
- description
- No option to request non-medically actionable incidental information
Primary outcomes (1)
- measure
- Extent of test-specific distress 2 weeks after return of results
- timeFrame
- 2 weeks after return of diagnostic results; for adult patient participants who are eligible and who request them, 2 weeks after return of non-medically actionable incidental results
- description
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
\- To receive whole exome sequencing in the study, adult or child patients must have a significant chance of having a genetic disorder, as determined by experts on the study team using criteria that depend on the genetic disorder in question. Representative criteria are listed below and will be considered together to determine whether patterns indicate a likely genetic etiology. Cancer * Age of diagnosis * Presence of bilateral (or multiple) cancers * Diagnosis of a rare type of cancer * Details of the family history Cardiovascular Conditions * Certain clinical findings, such as prolonged QT interval on electrocardiogram. * Presence of hypertrophic cardiomyopathy or aortic aneurysm * Age of diagnosis * Presence of family history Pediatric neurodevelopmental disorders * Specific brain structural brain abnormalities * Presence of certain seizure types * Dysmorphic features
References
Publications (1)
- DERIVEDRini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O'Daniel JM, Evans JP, Berg JS, Henderson GE. Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. Patient Educ Couns. 2021 Dec;104(12):2989-2998. doi: 10.1016/j.pec.2021.04.026. Epub 2021 Apr 29. PMID 33966955