[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100254821":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":15,"centralContacts":20,"locations":29,"responsibleParty":50,"collaborators":10,"id":52,"slug":53,"hasResults":54,"nctId":55,"briefTitle":56,"officialTitle":56,"acronym":10,"eligibilityCriteria":57,"healthyVolunteers":54,"sex":58,"minAge":59,"maxAge":60,"enrollmentInfo":61,"targetDuration":10,"studyType":64,"phases":10,"briefSummary":65,"conditions":66,"keywords":69,"overallStatus":32,"whyStopped":10,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":84},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"Cascade Testing",null,"Family members of individuals who have received secondary genomic findings after exome\u002Fgenome sequencing",{"label":13,"type":10,"description":14,"interventionNames":10},"Secondary findings recipients","Individuals who have received secondary genomic findings after exome\u002Fgenome sequencing",[16],{"name":17,"affiliation":18,"role":19},"Leslie G Biesecker, M.D.","National Human Genome Research Institute (NHGRI)","PRINCIPAL_INVESTIGATOR",[21,26],{"name":22,"role":23,"phone":24,"phoneExt":10,"email":25},"Julie C Sapp","CONTACT","(301) 435-2832","sappj@mail.nih.gov",{"name":17,"role":23,"phone":27,"phoneExt":10,"email":28},"(301) 402-2041","lesb@mail.nih.gov",[30],{"facility":31,"status":32,"city":33,"state":34,"zip":35,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"National Institutes of Health Clinical Center","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":39,"coordinates":40},"Point",[41,42],-77.10026,38.98067,{"lat":42,"lon":41},[45],{"name":46,"role":23,"phone":47,"phoneExt":48,"email":49},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","800-411-1222","TTY dial 711","ccopr@nih.gov",{"type":51,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100254821","genomic-services-research-program-100254821",false,"NCT02595957","Genomic Services Research Program","* ELIGIBILITY CRITERIA:\n\nWe 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,\n\nand subjective understanding of their result.\n\nIf we conclude, based on a review of the SF and available personal and\u002For family history, that the pathogenicity of the SF is not at least likely pathogenic, that participant may be eligible for the survey, interview, and\u002For 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\n\nconsidered a screen failure and will not continue with study procedures.\n\nWe 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.\n\nIf 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.\n\n-We may enroll a child in this protocol if he\u002Fshe is the only person in his\u002Fher 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).\n\nWe will not enroll neonates (less than one month old).\n\n* 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\u002Fshe is the only person in his\u002Fher family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease.\n* 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.\n* 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\n\nmember and provide a copy of the NIH Frequently Asked Questions (FAQs) for Staff Who are Considering Participation in NIH Research , before consent is obtained.","ALL","1 Month","105 Years",{"count":62,"type":63},5000,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenes 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.\n\nObjectives:\n\nTo learn about how gene variants may affect a person s health.\n\nTo learn about how people understand their genetic test results.\n\nEligibility:\n\nPeople with secondary findings from genetic testing done as part of a research study, clinical care, or other methods.\n\nDesign:\n\nParticipants 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.\n\nEligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding.\n\nDNA samples that were already collected may be studied.\n\nParticipants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.\n\nParticipants who have a secondary finding can get genetic counseling.",[67,68],"Colon Cancer","Breast Cancer",[70,71,72,73,74],"Genome Sequencing","Secondary Findings","Return of Results","Natural History","Exome Sequencing","2026-06-17",{"date":77,"type":78},"2026-06-18","ACTUAL",{"date":80,"type":78},"2014-09-16",{"date":82,"type":63},"2028-12-31",{"name":18,"class":6},1]