NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

Brief Summary

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.

Primary Outcomes

Secondary Outcomes

• Extent of information seeking(2 weeks after consent (T1) and change from T1 to 2 weeks after return of diagnostic results)
• Extent of health-related Quality of Life 2 weeks after consent(All participants: 2 wks after consent (T1))
• Extent of communication of test results with other people(2 weeks after return of diagnostic results)
• 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 Decision Regret 2 weeks after consent(All participants: 2 wks after consent (T1))
• Extent of Healthcare Utilization 2 weeks after return of results(All participants: 22 wks after return of diagnostic (dx) results)
• 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)
• Change in decision regret(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(All participants: 2 wks after consent (T1))
• Change in Healthcare Utilization(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(Adult participants: 2 wks after consent (T1))
• Change in enactment of health-related lifestyle behaviors(Adult participants: Change in behaviors from 2 wks after consent (T1) to 2 wks, 3 months, and 6 months after return of dx results)
• Change in extent of psychological distress(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 return of results(All participants: 2 wks after return of diagnostic results)
• Enactment of health-related lifestyle behaviors 2 weeks after return of results(Adult participants: 2 wks after return of diagnostic (dx) results)
• Extent of psychological distress 2 weeks after consent(All participants: 2 wks after consent)
• Extent of psychological distress 2 weeks after return of results(All participants: 2 wks after return of diagnostic (dx) results)
• Change in extent of health-related Quality of Life(All participants: Change from 2 wks after consent to 2 weeks after return of diagnostic results)