Genomic Services Research Program

National Institutes of Health (NIH)

Status

Enrolling

Conditions

Breast Cancer

Colon Cancer

Study type

Observational

Funder types

NIH

Identifiers

NCT02595957

16-HG-0017

160017

Details and patient eligibility

About

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.

Full 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 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.

Enrollment

5,000 estimated patients

Sex

All

Ages

1 month to 105 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

ELIGIBILITY CRITERIA:
Any English- or Spanish-speaking recipient of a SF. The circumstances under which SF are generated (either clinically or as part of research studies) indicate that these individuals may represent a wide range of ages of patients, children and

adults.

For minors or decisionally-impaired adults, one parent/guardian, typically the self designated primary health care support parent, will be enrolled. If the parents claim equal roles, whichever of the parents selects to participate in the interview/survey will be enrolled.
It is important to emphasize that we will not ask minors or decisionally impaired adults to participate in the social and behavioral components of the study. Because validated instruments for our surveys largely do not exist in languages other than English, we cannot administer these measures to non-English speakers.
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.