Genomic Services Research Program

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 2015

Keywords

ClinConnect Summary

The Genomic Services Research Program is a clinical trial focused on understanding the role of genes in conditions like colon cancer and breast cancer. Researchers will look at DNA samples to identify changes in genes that could lead to these diseases. They hope to discover new genetic factors that contribute to these conditions and learn how people interpret their genetic test results. If a participant has a significant genetic finding that relates to their health, the research team will share this information with them. They may also find out about other genetic risks that are not linked to the main condition being studied.

To be eligible for the trial, participants should have rare diseases and must already be enrolled in another research study outside of the National Human Genome Research Institute. Individuals of all ages, including children and adults, can participate, but specific criteria apply for minors and those unable to give consent. Participants can expect to provide DNA samples and, after receiving their results, take part in surveys and interviews to discuss how they use this information. Additionally, those with significant secondary findings will have access to genetic counseling for support.

Gender

ALL

Eligibility 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.