Genomic Services Research Program
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT02595957 |
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Recruitment Status :
Recruiting
First Posted : November 4, 2015
Last Update Posted : April 26, 2024
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Background:
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.
Objectives:
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.
Eligibility:
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.
Design:
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 they get that result.
Participants who have a secondary finding can get genetic counseling.
| Condition or disease |
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| Colon Cancer Breast Cancer |
| Study Type : | Observational |
| Estimated Enrollment : | 5000 participants |
| Observational Model: | Cohort |
| Time Perspective: | Cross-Sectional |
| 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 |
| Group/Cohort |
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Cascade Testing
Family members of individuals who have received secondary genomic findings after exome/genome sequencing
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Secondary findings recipients
Individuals who have received secondary genomic findings after exome/genome sequencing
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- 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 1 Month to 105 Years (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
- ELIGIBILITY CRITERIA:
- Any English- or Spanish-speaking recipient of a SF. The circumstances under which SF are generated (either clinically or as part of research studies) indicate that these individuals may represent a wide range of ages of patients, children and
adults.
- For minors or decisionally-impaired adults, one parent/guardian, typically the self designated primary health care support parent, will be enrolled. If the parents claim equal roles, whichever of the parents selects to participate in the interview/survey will be enrolled.
- It is important to emphasize that we will not ask minors or decisionally impaired adults to participate in the social and behavioral components of the study. Because validated instruments for our surveys largely do not exist in languages other than English, we cannot administer these measures to non-English speakers.
- We may enroll a child in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease (e.g., Wilson disease and familial hypercholesterolemia have childhood onset). We will not enroll neonates (less than one month old).
- We may enroll adults who are unable to consent (i.e., an individual who is impaired at the time of consent) in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease.
- We may enroll women who are pregnant in this protocol and women who become pregnant during the study can continue their participation. We will not perform prenatal genetic testing.
- NIH staff members are not prohibited from enrollment if they meet the study s eligibility criteria.
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: Julie Sapp | (301) 435-2832 | sappj@mail.nih.gov | |
| Contact: Leslie G Biesecker, M.D. | (301) 402-2041 | lesb@mail.nih.gov |
| 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 ccopr@nih.gov | |
| Principal Investigator: | Leslie G Biesecker, M.D. | National Human Genome Research Institute (NHGRI) |
Publications:
| Responsible Party: | National Human Genome Research Institute (NHGRI) |
| ClinicalTrials.gov Identifier: | NCT02595957 |
| Other Study ID Numbers: |
160017 16-HG-0017 |
| First Posted: | November 4, 2015 Key Record Dates |
| Last Update Posted: | April 26, 2024 |
| Last Verified: | April 24, 2024 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Return of Results Exome Sequencing Secondary Findings Natural History |
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Colonic Neoplasms Colorectal Neoplasms Intestinal Neoplasms Gastrointestinal Neoplasms Digestive System Neoplasms Neoplasms by Site |
Neoplasms Digestive System Diseases Gastrointestinal Diseases Colonic Diseases Intestinal Diseases |