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.

Core facilities play crucial roles in carrying out the academic research mission by making available to researchers advanced technologies, facilities, or expertise that are unfeasible for most investigators to obtain on their own. To facilitate translational science through support of core services, the University of California, Los Angeles Clinical and Translational Science Institute (UCLA CTSI) created a Core Voucher program. The underlying premise is that by actively promoting interplay between researchers and core facilities, a dynamic feedback loop could be established that could enhance both groups, the productivity of the former and the relevance of the latter. Our primary goal was to give translational investigators what they need to pursue their immediate projects at hand.

To implement this system across four noncontiguous campuses, open-source web-accessible software applications were created that were scalable and could efficiently administer investigator submissions and subsequent reviews in a multicampus fashion.

In the past five years, we have processed over 1400 applications submitted by over 750 individual faculty members across both clinical and nonclinical departments. In total, 1926 core requests were made in conjunction with 1467 submitted proposals. The top 10 most popular cores accounted for 50% of all requests, and the top half of the most popular cores accounted for 90% of all requests.

Tracking investigator demand provides a unique window into what are the high- and low-priority core services that best support translational research.