Ignite Creation Date:
2024-05-06 @ 11:48 AM
Last Modification Date:
2024-10-26 @ 12:50 PM
Study NCT ID:
NCT03605004
Status:
COMPLETED
Last Update Posted:
2020-05-11
First Post:
2018-07-27
Brief Title:
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
Status:
COMPLETED
Status Verified Date:
2020-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
People with conditions that are unknown or hard to diagnose may be helped by a genetic technique It is called exome sequencing It helps diagnose disease by unlocking all the data in a person s genetic code But the results from it are often unclear Uncertain results can pose problems for doctors and patients Researchers want to learn more about how people respond when they get uncertain results
Objective
To study the psychological and behavioral effects of getting uncertain results from exome sequencing
Eligibility
Adults who have
Had a diagnostic odyssey for at least 6 months An example is having clinical symptoms but no diagnosis
And had exome sequencing to try to reach a diagnosis
Design
Participants will choose a date and time for their interview They will sign a form to give consent and authorization
Participants will fill out 2 forms One is the Intolerance of Uncertainty Short Form Scale The other is the Perceptions of Uncertainties in Genome Sequencing Scale
Both scales ask about what it is like to get clinically uncertain results from exome sequencing They focus on coping and other behavioral responses
Participants will have a phone interview It will last for 45-60 minutes It will be recorded and transcribed
At the start of the call the researcher will review the consent form with the participant Participants will give data such as race education income and how long they have been looking for a diagnosis
Participants will read their responses to the 2 scales during the interview
People with conditions that are unknown or hard to diagnose may be helped by a genetic technique It is called exome sequencing It helps diagnose disease by unlocking all the data in a person s genetic code But the results from it are often unclear Uncertain results can pose problems for doctors and patients Researchers want to learn more about how people respond when they get uncertain results
Objective
To study the psychological and behavioral effects of getting uncertain results from exome sequencing
Eligibility
Adults who have
Had a diagnostic odyssey for at least 6 months An example is having clinical symptoms but no diagnosis
And had exome sequencing to try to reach a diagnosis
Design
Participants will choose a date and time for their interview They will sign a form to give consent and authorization
Participants will fill out 2 forms One is the Intolerance of Uncertainty Short Form Scale The other is the Perceptions of Uncertainties in Genome Sequencing Scale
Both scales ask about what it is like to get clinically uncertain results from exome sequencing They focus on coping and other behavioral responses
Participants will have a phone interview It will last for 45-60 minutes It will be recorded and transcribed
At the start of the call the researcher will review the consent form with the participant Participants will give data such as race education income and how long they have been looking for a diagnosis
Participants will read their responses to the 2 scales during the interview
Detailed Description:
Patients pursuing exome sequencing in their quest for diagnosis will most often receive a clinically uncertain result A clinically uncertain result is a result that has some level of objective uncertainty frequently viewed by clinicians in regard to a patient s diagnosis A clinically uncertain result can be a result that is negative with no reportable variants or that includes one or more variants deemed uncertain with regard to the cause of a patient s illness Clinically uncertain results present challenges to both providers and patients in the forms of disclosing and processing uncertain health information This exploratory study aims to seek insight into the psychological and behavioral impact of receiving clinically uncertain results from exome sequencing Semi-structured phone interviews will be conducted with approximately 30-40 adult patients with undiagnosed conditions who have received clinically uncertain result from exome sequencing The interviews will focus on the experience of receiving the clinically uncertain result with emphasis on appraisal of uncertainty coping and other affective and behavioral responses Interviews will be transcribed and subjected to thematic analysis Understanding how patients with undiagnosed conditions respond to clinically uncertain results from exome sequencing may inform providers practices around informed consent for exome sequencing and the disclosure of clinically uncertain results through a greater consideration of patient concerns and challenges with adaptation This study may also identify implications for interventions to reduce negative effects of receiving uncertain genomic information
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 18-HG-N124 | None | None | None |