Genomic Services Research Program

Official record

Identifier

NCT02595957

Recruiting locations

country

United States

Interventions studied

Not provided in the official record

Lead sponsor

National Human Genome Research Institute (NHGRI)

Target enrolment

5000 participants

Study type

OBSERVATIONAL

Phase

Not provided in the official record

Status

Recruiting

First posted

Nov 4, 2015

Last updated on the registry

Sep 28, 2026

Age

1 Month – 105 Years

Sex

ALL

Study contact

The official record lists a study contact. Contact details are published there and are intentionally not copied to this page.

Eligibility criteria

Reproduced verbatim from the official record. Eligibility is decided by the study team, never by this page.

* 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 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. The study team will make every effort to protect the confidentiality of the NIH staff member s health information, to minimize any pressure on or discomfort of the NIH staff

member and provide a copy of the NIH Frequently Asked Questions (FAQs) for Staff Who are Considering Participation in NIH Research , before consent is obtained.

Indexed under

Colorectal Cancer