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Genomic Services Research Program

NCT02595957 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2026-05-07

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Leslie G Biesecker, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Max Age
105 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-16
Primary Completion
2028-12-31
Completion
2028-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02595957 on ClinicalTrials.gov