Genomic Services Research Program

Recruiting

• Conditions: Breast Cancer; Colon Cancer

• Registration Number: NCT02595957
• Lead Sponsor: National Human Genome Research Institute (NHGRI)

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.

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 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 Timeline

• Study Start: 2014-09-16
• Study First Submitted: 2015-11-03
• Study First Submitted QC: 2015-11-03
• Study First Posted: 2015-11-04
• Status Verified: 2025-08-13
• Last Update Submitted: 2025-08-26
• Last Update Posted: 2025-08-27
• Primary Completion: 2028-12-31
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 5000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Health impacts of SF receipt	enrollment and return of results	We will assess the health impacts of SF receipt and healthcare processes affecting outcomes in SF recipients.
Adherence to medical recommendations	enrollment and return of results	We will assess what individual, community, and systemic factors influence recipients' follow through on recommendations and how they communicate SF results with family members.
Family based positive predictive value	return of results and cascade testing	We will assess penetrance using the family-based positive predictive value metric
Responses and perceptions	enrollment and return of results	We will assess affective responses and healthcare and behavioral changes to receiving positive SF results

Trial Locations

Locations (1)

National Institutes of Health Clinical Center; 🇺🇸 Bethesda, Maryland, United States