Overview

This trial is active, not recruiting.

Conditions cancer, cardiovascular disease, neurologic dysfunction, congenital abnormalities, hearing loss
Treatment experimental
Sponsor University of North Carolina, Chapel Hill
Collaborator National Human Genome Research Institute (NHGRI)
Start date August 2012
End date February 2017
Trial size 645 participants
Trial identifier NCT01969370, 11-1865, U01HG006487

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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Allocation randomized
Endpoint classification efficacy study
Intervention model parallel assignment
Masking single blind (outcomes assessor)
Arm
(Experimental)
Option to request non-medically actionable incidental information (after receiving education about them)
experimental
Option to request non-medically actionable incidental information (after receiving education about them)
(No Intervention)
No option to request non-medically actionable incidental information

Primary Outcomes

Measure
Extent of test-specific distress 2 weeks after return of results
time frame: 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

Measure
Change in test-specific distress at 3 and 6 months after return of results
time frame: 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
time frame: 2 weeks after return of diagnostic results
Extent of information seeking
time frame: 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
time frame: All participants: 2 wks after consent (T1)
Extent of Decision Regret 2 weeks after return of results
time frame: All participants: 2 wks after return of diagnostic (dx) results and, for eligible adults who request them, return of incidental results
Change in decision regret
time frame: For all participants: Change from post-consent to post-return of results; Additional for adults: change at 3 and 6 months after return of dx results
Extent of Healthcare Utilization 2 weeks after consent
time frame: All participants: 2 wks after consent (T1)
Extent of Healthcare Utilization 2 weeks after return of results
time frame: All participants: 22 wks after return of diagnostic (dx) results
Change in Healthcare Utilization
time frame: All participants: Change in utilization from post-consent to post-return of results; Additional for adult patients: Change at 3 and 6 months after return of dx results
Enactment of health-related lifestyle behaviors 2 weeks after consent
time frame: Adult participants: 2 wks after consent (T1)
Enactment of health-related lifestyle behaviors 2 weeks after return of results
time frame: Adult participants: 2 wks after return of diagnostic (dx) results
Change in enactment of health-related lifestyle behaviors
time frame: Adult participants: Change in behaviors from 2 wks after consent (T1) to 2 wks, 3 months, and 6 months after return of dx results
Extent of psychological distress 2 weeks after consent
time frame: All participants: 2 wks after consent
Extent of psychological distress 2 weeks after return of results
time frame: All participants: 2 wks after return of diagnostic (dx) results
Change in extent of psychological distress
time frame: All participants: Change from 2 wks after consent (T1) to 2 wks after return of diagnostic (dx) results; Additional for adult patients: Change at 3 and 6 months after return of dx results
Extent of health-related Quality of Life 2 weeks after consent
time frame: All participants: 2 wks after consent (T1)
Extent of health-related Quality of Life 2 weeks after return of results
time frame: All participants: 2 wks after return of diagnostic results
Change in extent of health-related Quality of Life
time frame: All participants: Change from 2 wks after consent to 2 weeks after return of diagnostic results

Eligibility Criteria

Male or female participants of any age.

- 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

Additional Information

Official title NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing
Principal investigator James P Evans, MD, Ph.D
Description 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. Participants are patients who were either seen in the University of North Carolina Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA (Clinical Laboratory Improvement Amendments)-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). Because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are described here.
Trial information was received from ClinicalTrials.gov and was last updated in September 2016.
Information provided to ClinicalTrials.gov by University of North Carolina, Chapel Hill.