This study serves as a centralized sequencing protocol for NIH human subjects research studies to facilitate standardization and consolidate accrual of genotype and phenotype data for participating programs.
Participants of other NIH studies—both at the NIH CC and CNHS—that include genetic testing may enroll in this protocol and genetic testing with clinical return of results will be conducted under this study.
Goal of Study
The objectives are to generate and analyze evidence regarding
- genetic contributions to disease, and
- the process and outcomes of providing clinical genomic services.
This study requires informed consent and a one-time sample collection.
Participants must fulfill one of the following criteria:
- Proband participants must have a disease under investigation by another NIH protocol on which they are enrolled.
- Alternatively, participants may be the biological relative of a study proband.
- In select cases at the NIH, healthy volunteers may be enrolled as targeted internal controls.
Visit ClinicalTrials.gov for details.