Official Title
Genomic Services Research Program
Brief Title
Genomic Services Research Program
Protocol ID
NCT02595957
Lead Sponsor
National Human Genome Research Institute (NHGRI)
Brief 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.
Detailed Description
The implementation of genome and exome sequencing creates challenges and opportunities,
particularly with respect to the return of medically-actionable secondary findings (SF).
This study seeks to investigate the utility and effectiveness of returning SF generated
via research or clinical sequencing by studying individuals who have received such
findings. Our objectives with this protocol have evolved over time and have been
substantially informed by our experiences in returning SF through sequencing initiatives
such as the ClinSeq(R) study, the Clinical Center Genomics Opportunity (CCGO), and the
Secondary Genomic Findings Service (SGFS). Our work with these studies/initiatives
suggests that much remains unknown about how recipients of SF understand these findings,
communicate them to their health professionals and families, and whether they adhere to
recommended health-preserving actions in both the short and long-term. As well,
recipients of SF are an unselected population in which to investigate penetrance of
disorders associated with SF genes. Thus, this protocol aims to explore important
questions of clinical utility associated with SF return and penetrance of SF-related
disorders. Healthcare actions and family communication (clinical utility) are assessed by
interviews and surveys with SF recipients. This protocol also includes a pilot program in
which selected participants will be invited to the NIH for bespoke phenotyping to uncover
the presence of disease and explore avenues to develop interventions to enhance outcomes.
Study Period
-
Enrollment Count
5,000 participants
Eligibility Criteria
- 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.
Filters
Colon Cancer
Breast Cancer
RECRUITING
CHILD
ADULT
OLDER_ADULT