Ignite Creation Date:
2025-12-24 @ 6:37 PM
Ignite Modification Date:
2025-12-28 @ 9:34 AM
Study NCT ID:
NCT02595957
Status:
RECRUITING
Last Update Posted:
2025-12-19
First Post:
2015-11-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genomic Services Research Program
Sponsor:
National Human Genome Research Institute (NHGRI)
Organization:
Study Overview
Official Title:
Genomic Services Research Program
Status:
RECRUITING
Status Verified Date:
2025-11-28
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:
Genes are the instructions a person s body uses to function. Genome sequencing reads through all of a person s genes. Everyone has many gene variants, and most do not cause disease. Some gene variants called secondary findings may be important for a person s health even if they are not related to the reason why a person had genome sequencing done. Researchers want to learn more about what it means to have a secondary finding.
Objectives:
To learn about how gene variants may affect a person s health.
To learn about how people understand their genetic test results.
Eligibility:
People with secondary findings from genetic testing done as part of a research study, clinical care, or other methods.
Design:
Participants may be asked to do an online survey and phone interview to ask what they think about their results, their healthcare, and if they talk with their family about the result.
Eligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding.
DNA samples that were already collected may be studied.
Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.
Participants who have a secondary finding can get genetic counseling....
Genes are the instructions a person s body uses to function. Genome sequencing reads through all of a person s genes. Everyone has many gene variants, and most do not cause disease. Some gene variants called secondary findings may be important for a person s health even if they are not related to the reason why a person had genome sequencing done. Researchers want to learn more about what it means to have a secondary finding.
Objectives:
To learn about how gene variants may affect a person s health.
To learn about how people understand their genetic test results.
Eligibility:
People with secondary findings from genetic testing done as part of a research study, clinical care, or other methods.
Design:
Participants may be asked to do an online survey and phone interview to ask what they think about their results, their healthcare, and if they talk with their family about the result.
Eligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding.
DNA samples that were already collected may be studied.
Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.
Participants who have a secondary finding can get genetic counseling....
Detailed Description:
The implementation of genome and exome sequencing creates challenges and opportunities, particularly with respect to the return of medically-actionable secondary findings (SF). This study seeks to investigate the utility and effectiveness of returning SF generated via research or clinical sequencing by studying individuals who have received such findings. Our objectives with this protocol have evolved over time and have been substantially informed by our experiences in returning SF through sequencing initiatives such as the ClinSeq(R) study, the Clinical Center Genomics Opportunity (CCGO), and the Secondary Genomic Findings Service (SGFS). Our work with these studies/initiatives suggests that much remains unknown about how recipients of SF understand these findings, communicate them to their health professionals and families, and whether they adhere to recommended health-preserving actions in both the short and long-term. As well, recipients of SF are an unselected population in which to investigate penetrance of disorders associated with SF genes. Thus, this protocol aims to explore important questions of clinical utility associated with SF return and penetrance of SF-related disorders. Healthcare actions and family communication (clinical utility) are assessed by interviews and surveys with SF recipients. This protocol also includes a pilot program in which selected participants will be invited to the NIH for bespoke phenotyping to uncover the presence of disease and explore avenues to develop interventions to enhance outcomes.
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?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 16-HG-0017 | None | None | View |