RecruitingNot Applicable

Genomic Services Research Program

United States5,000 participantsStarted 2014-09-16

Plain-language 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....

Who can participate

Age range

1 Month – 105 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* ELIGIBILITY CRITERIA: We employ a referral form through SurveyMonkey to receive referrals from recruitment partners or self-referrals. This serves as an intake form and self-reported eligibility review. This form asks for contact information, key information about the prospective participant s SF, and subjective understanding of their result. If we conclude, based on a review of the SF and available personal and/or family history, that the pathogenicity of the SF is not at least likely pathogenic, that participant may be eligible for the survey, interview, and/or re-contact for future follow-up, but will not complete any other protocol procedures (such as cascade testing). If a participant is consented and information arises during the social and behavioral study procedures that lead study staff to believe the genetic result does not qualify as an SF, the participant will be considered a screen failure and will not continue with study procedures. We plan to offer enrollment in this protocol to English- or Spanish-speaking recipients of SF. We do not have trained staff who can conduct the interviews in languages other than English and Spanish. If a caregiver of a minor or adult who is unable to consent is enrolled as an index participant to complete the survey and interview on behalf of the SF recipient, they may also be eligible for cascade testing to relate presence of an SF-related phenotype in a family member with presence or absence of SF genotype. -We may enroll…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This study is measuring how receiving a 'summary of findings' report affects my health decisions and whether I actually follow through on medical recommendations — can you help me understand what kind of genetic or health information that report might contain, and how it could change my care plan for colon or breast cancer?
2Since this trial isn't a treatment study but seems to focus on how genomic information is shared and used within families, how would my participation affect my relatives, and should I talk to them before deciding whether to discuss this with you?
3The study is tracking something called 'family-based positive predictive value' — can you explain in plain terms what that means for me and whether findings about my genetics could have implications for my children or siblings?
4Because this research doesn't appear to be testing a drug or procedure, what would actually be asked of me as a participant — like surveys, genetic tests, or follow-up visits — and how much time and effort would it realistically take?
5Given that this is a research program rather than a direct treatment trial, would participating in any way delay or interfere with the standard screening or treatment options I should already be considering for colon or breast cancer?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Health impacts of SF receipt

Timeframe: enrollment and return of results

Adherence to medical recommendations

Timeframe: enrollment and return of results

Family based positive predictive value

Timeframe: return of results and cascade testing

Responses and perceptions

Timeframe: enrollment and return of results

Trial details

NCT IDNCT02595957

SponsorNational Human Genome Research Institute (NHGRI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2028-12-31

Contact for this trial

Julie C Sapp

(301) 435-2832 sappj@mail.nih.gov

View on ClinicalTrials.gov More Colon Cancer trials

Plain-language summary

Who can participate

Age range

1 Month – 105 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Health impacts of SF receipt

Timeframe: enrollment and return of results

Adherence to medical recommendations

Timeframe: enrollment and return of results

Family based positive predictive value

Timeframe: return of results and cascade testing

Responses and perceptions

Timeframe: enrollment and return of results