NIAID Centralized Sequencing Protocol

Summary

Participation Requirements

Description

Investigators at the National Institutes of Health (NIH) use next-generation sequencing technologies to help determine genetic contributions to various health conditions. These efforts have increased rates of molecular diagnosis for a subset of participants as well as uncovered fundamental insights ...

Investigators at the National Institutes of Health (NIH) use next-generation sequencing technologies to help determine genetic contributions to various health conditions. These efforts have increased rates of molecular diagnosis for a subset of participants as well as uncovered fundamental insights into the cellular and signaling pathways of human biology. 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. This is true across the intramural research program. 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 throughout participating programs at the NIH. Probands will provide biological specimens for genetic testing and will be required to be enrolled on a primary protocol, which will execute the primary clinical and research evaluations. This protocol serves as a vehicle for a programmatic effort that includes standardized phenotyping, test ordering through the Clinical Research Information System (CRIS), 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 intramural program. Overall, increased process standardization will support data integrity and efficiency while still accommodating the need for investigator flexibility.

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