NIAID Centralized Sequencing Program

Investigators at the National Institute of Allergy and Infectious Diseases (NIAID) use next-generation sequencing technologies to help determine genetic contributions to immune diseases. These efforts have increased rates of molecular diagnosis for a subset of NIAID participants as well as uncovered fundamental insights into the cellular and signaling pathways in host defense and immune regulation. Despite these successes, analysis and interpretation of genomic data remain a substantial challenge. Simply, researchers do not understand the functional and clinical consequences of most human genetic variation. Making progress in this area requires a coordinated, systematic, and transparent approach to clinical genomics research. This protocol is specific to genetic testing and explicitly aims to both strengthen clinical care and enhance research. Probands provide biological specimens for genetic testing and primary clinical and research evaluations are completed via a research protocol at NIAID. This protocol serves as a vehicle for a programmatic effort that includes standardized phenotyping, test ordering through the Clinical Research Information System (CRIS) at the National Institutes of Health Clinical Center, sample collection and isolation, nucleic acid analysis, bioinformatics, clinical interpretation, reporting in CRIS, genetic counseling, and supporting effective use of genomics as a research tool throughout the institute. Overall, increased process standardization will support data integrity and efficiency while still accommodating the need for investigator flexibility. This study aims to generate and analyze evidence regarding the genetic contribution to diverse immune diseases studied by the NIAID intramural research program.]]>
Participant Inclusion Criteria Must fulfill one of the following criteria: Proband participants must have a disease under investigation by another NIAID protocol on which they are enrolled. Alternatively, participants may be the biological relative of a study proband. Aged 0-99 years. For participants unable to visit the NIH Clinical Center or who are younger than 2 years of age, mail-in samples for genetic testing can be submitted. Participants must be willing to undergo genetic testing. Participants who are pregnant are eligible to enroll. Participants must be willing to allow samples to be stored for future research. Participants must be willing to have their de-identified genomic data shared, for example in a controlled access databases like the Database of Genotypes and Phenotypes (dbGaP). Participant Exclusion Criteria Any condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.]]>