NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370 | Completed DMC

• 2 other identifiers: 11-1865U01HG006487
• Study Type: interventional
• Target: 645
• Locations: 1 country
• Sites: 1

Brief Summary

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

Cancer; Cardiovascular Disease; Neurologic Dysfunction; Congenital Abnormalities; Hearing Loss

Keywords

Cancer; Cardiovascular disease; Neurodegenerative disease; Neurodevelopmental disease; Dysmorphology; Hearing loss; Other conditions, including ophthalmic conditions

Outcome Measures

Primary Outcomes (1)

• Extent of test-specific distress 2 weeks after return of results

  Measured with an adapted version of the multidimensional impact of testing scale (MICRA)

  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

Secondary Outcomes (18)

• Change in test-specific distress at 3 and 6 months after return of results

  Adult patient participants: change from 2 weeks after return of diagnostic results to 3 months and 6 months after return of diagnostic results

• Extent of communication of test results with other people

  2 weeks after return of diagnostic results

• Extent of information seeking

  2 weeks after consent (T1) and change from T1 to 2 weeks after return of diagnostic results

• Extent of Decision Regret 2 weeks after consent

  All participants: 2 wks after consent (T1)

• Extent of Decision Regret 2 weeks after return of results

  All participants: 2 wks after return of diagnostic (dx) results and, for eligible adults who request them, return of incidental results

Study Arms (2)

Experimental

EXPERIMENTAL

Option to request non-medically actionable incidental information (after receiving education about them)

Behavioral: Experimental

Control

NO INTERVENTION

No option to request non-medically actionable incidental information

Interventions

Experimental BEHAVIORAL

Option to request non-medically actionable incidental information (after receiving education about them)

Experimental

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

\- 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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• University of North Carolina, Chapel Hill: lead
• National Human Genome Research Institute (NHGRI): collaborator
• UNC Lineberger Comprehensive Cancer Center: collaborator

Study Sites (1)

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27599, United States

Location

Related Publications (1)

• Rini 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 DERIVED

MeSH Terms

Conditions

Neoplasms; Cardiovascular Diseases; Neurologic Manifestations; Congenital Abnormalities; Hearing Loss; Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders

Study Officials

• James P Evans, MD, Ph.D

  University of North Carolina, Chapel Hill

  PRINCIPAL INVESTIGATOR

• Gail Henderson, Ph.D

  University of North Carolina

  PRINCIPAL INVESTIGATOR

• Jonathan S Berg, MD, Ph.D

  University of North Carolina

  PRINCIPAL INVESTIGATOR

• Christine Rini, Ph.D

  University of North Carolina

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Professor

Study Record Dates

• First Submitted: October 16, 2013
• First Posted: October 25, 2013
• Study Start: August 1, 2012
• Primary Completion: March 1, 2017
• Study Completion: March 1, 2017
• Last Updated: May 3, 2017

Record last verified: 2017-05

Data Sharing

• IPD Sharing: Will share

Locations

US (1)