NCT01969370

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 645 (actual)
• Sponsor: University of North Carolina, Chapel Hill · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed 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.

Conditions

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

Interventions

Type	Name	Description
BEHAVIORAL	Experimental	Option to request non-medically actionable incidental information (after receiving education about them)

Timeline

• Start date: 2012-08-01
• Primary completion: 2017-03-01
• Completion: 2017-03-01
• First posted: 2013-10-25
• Last updated: 2017-05-03

Locations

1 site across 1 country: United States