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.
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.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
OTHER
Masking
SINGLE
Enrollment
645
Option to request non-medically actionable incidental information (after receiving education about them)
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
Extent of test-specific distress 2 weeks after return of results
Measured with an adapted version of the multidimensional impact of testing scale (MICRA)
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
Change in test-specific distress at 3 and 6 months after return of results
Measure is an adapted version of the multidimensional impact of testing scale MICRA)
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
Motivations of communications will also be assessed and examined for descriptive analyses.
Time frame: 2 weeks after return of diagnostic results
Extent of information seeking
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.
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
Also administered 2 wks after return of non-medically actionable incidental results for eligible adult patient participants who request them.
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
Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
Time frame: Adult participants: 2 wks after consent (T1)
Enactment of health-related lifestyle behaviors 2 weeks after return of results
Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
Time frame: Adult participants: 2 wks after return of diagnostic (dx) results
Change in enactment of health-related lifestyle behaviors
Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.
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
Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
Time frame: All participants: 2 wks after consent
Extent of psychological distress 2 weeks after return of results
Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
Time frame: All participants: 2 wks after return of diagnostic (dx) results
Change in extent of psychological distress
Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale
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
Measured with the Medical Outcomes Study Short Form-12
Time frame: All participants: 2 wks after consent (T1)
Extent of health-related Quality of Life 2 weeks after return of results
Measured with the Medical Outcomes Study Short Form-12
Time frame: All participants: 2 wks after return of diagnostic results
Change in extent of health-related Quality of Life
Measured with the Medical Outcomes Study Short Form-12
Time frame: All participants: Change from 2 wks after consent to 2 weeks after return of diagnostic results
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