Clinical Trial: NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

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.

Detailed 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. 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.
Sponsor: University of North Carolina, Chapel Hill

Current Primary Outcome: 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 ]

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


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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 ]
    Measure is an adapted version of the multidimensional impact of testing scale MICRA)
  • Extent of communication of test results with other people [ Time Frame: 2 weeks after return of diagnostic results ]
    Motivations of communications will also be assessed and examined for descriptive analyses.
  • Extent of information seeking [ Time Frame: 2 weeks after consent (T1) and change from T1 to 2 weeks after return of diagnostic results ]
    Participants will answer questions about the extent to which they sought information about whole exome sequencing and results it produces. Questions also ask about sources of that information (e.g., the Internet, doctors) to provide descriptive data about how participants get information.
  • 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 ]
    Also administered 2 wks after return of non-medically actionable incidental results for eligible adult patient participants who request them.
  • 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) ]
    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
  • Enactment of health-related lifestyle behaviors 2 weeks after return of results [ Time Frame: Adult participants: 2 wks after return of diagnostic (dx) results ]
    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
  • 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 ]
    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
  • Extent of psychological distress 2 weeks after consent [ Time Frame: All participants: 2 wks after consent ]
    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
  • Extent of psychological distress 2 weeks after return of results [ Time Frame: All participants: 2 wks after return of diagnostic (dx) results ]
    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
  • 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 ]
    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
  • Extent of health-related Quality of Life 2 weeks after consent [ Time Frame: All participants: 2 wks after consent (T1) ]
    Measured with the Medical Outcomes Study Short Form-12
  • Extent of health-related Quality of Life 2 weeks after return of results [ Time Frame: All participants: 2 wks after return of diagnostic results ]
    Measured with the Medical Outcomes Study Short Form-12
  • 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 ]
    Measured with the Medical Outcomes Study Short Form-12


Original Secondary Outcome: Same as current

Information By: University of North Carolina, Chapel Hill

Dates:
Date Received: October 16, 2013
Date Started: August 2012
Date Completion:
Last Updated: May 2, 2017
Last Verified: May 2017