Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core

The growing utility and availability of genome-scale sequencing has led to increasingly broad incorporation across specialty disciplines of clinical research. However, classification of clinical relevance of genetic variation is an inherently clinical task, and the expertise to perform the necessary analysis, confirmation and reporting of these variants is not available in all research teams; consequently, disclosure of genomic variants to research participants remains challenging for many researchers. Advancing genomic medicine as a standard of care first requires institutional commitment and partnerships in supporting genomics in varied research studies that are inclusive of return of results to participants.

The University of North Carolina at Chapel Hill has vast experience with genetics in both clinical and research realms. By utilizing historical experience and input from key players, the Clinical GENomic analYSIS (GENYSIS) core facility was created as a case study and aims to provide a roadmap for research organizations to implement their own genomic sequencing core facilities.

The core has established a molecular sign-out conference, partnered with other core facilities on campus, and provides five main services: bioinformatics, variant analysis, clinical reporting, post-test services, and consultation with project advising. This paper presents case examples with discussion of continuous methodology improvements and embedded educational activities.

This novel shared research resource enables clinical researchers with limited staff and genomics expertise to provide clinically relevant results to their study participants, expanding the reach of genomics research.