Genomic Services Research Program
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-105
SponsorNational Human Genome Research Institute (NHGRI)
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial population
Individuals who have participated in a sequencing study at the NIH or elsewhere who have have received secondary findings through other means are eligible.
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
5,000 Participants
are grouped into 2 trial groupsGroup A: Cascade Testing
Group B: Secondary findings recipients
Trial outcomes
Primary outcomes
1
Health impacts of SF receipt
We will assess the health impacts of SF receipt and healthcare processes affecting outcomes in SF recipients.
Time frame
enrollment and return of results2
Adherence to medical recommendations
We will assess what individual, community, and systemic factors influence recipients' follow through on recommendations and how they communicate SF results with family members.
Time frame
enrollment and return of results3
Family based positive predictive value
We will assess penetrance using the family-based positive predictive value metric
Time frame
return of results and cascade testing4
Responses and perceptions
We will assess affective responses and healthcare and behavioral changes to receiving positive SF results
Time frame
enrollment and return of resultsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov