Genomic Services Research Program
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|ClinicalTrials.gov Identifier: NCT02595957|
Recruitment Status : Recruiting
First Posted : November 4, 2015
Last Update Posted : January 27, 2023
Genes are the instructions a person s body uses to function. Genome sequencing is a new way to look at genes that your main research team is using to learn the causes of the condition they are studying. When a new cause is found this way, it is called a primary variant. Each person has many variants. Most do not cause disease. Sequencing can also find secondary variants. These are not related to the condition your main research team is studying, but may show a person to be at high risk for cancer or another condition. Researchers want to learn more about what it means to have a secondary variant.
To find new gene changes that lead to certain medical conditions. To better understand the causes of certain diseases. To learn about how people understand their genetic test results.
People with rare diseases who have already consented to and enrolled in another protocol run by a group other than the National Human Genome Research Institute.
DNA samples that were already collected will be studied.
Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.
If a primary variant for the participant s health condition is found through genome sequencing, this will be shared with the participant by their primary research team.
If the participant has a secondary finding, it will be shared by phone call or videoconference by this research group in the National Human Genome Research Institute. Some participants may get their results in person at the clinic.
Three months after getting their secondary findings, participants will do an online survey and phone interview. They will be asked about how they have used the information.
Some people who do not receive a secondary finding from genome sequencing will be asked to do an online survey three months after the get that result.
Participants who have a secondary finding can get genetic counseling.
|Condition or disease|
|Colon Cancer Breast Cancer|
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Genomic Services Research Program|
|Actual Study Start Date :||September 16, 2014|
|Estimated Primary Completion Date :||December 31, 2028|
|Estimated Study Completion Date :||December 31, 2028|
Family members of individuals who have received secondary genomic findings after exome/genome sequencing
Secondary findings recipients
Individuals who have received secondary genomic findings after exome/genome sequencing
- Responses and perceptions [ Time Frame: enrollment and return of results ]We will assess affective responses and healthcare and behavioral changes to receiving positive SF results
- Family based positive predictive value [ Time Frame: return of results and cascade testing ]We will assess penetrance using the family-based positive predictive value metric
- Adherence to medical recommendations [ Time Frame: 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.
- Health impacts of SF receipt [ Time Frame: enrollment and return of results ]We will assess the health impacts of SF receipt and healthcare processes affecting outcomes in SF recipients.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02595957
|Contact: Emily W Modlin||(240) email@example.com|
|Contact: Leslie G Biesecker, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 email@example.com|
|Principal Investigator:||Leslie G Biesecker, M.D.||National Human Genome Research Institute (NHGRI)|