SouthEast GEnomic Medicine eConsult Service (SE-GEMS) - Integrating genomic medicine into routine healthcare holds immense promise for improving patient outcomes through more timely testing, diagnosis, and precision therapeutics. Although the importance of genomic testing is recognized, its use in patient care remains scant due to a lack of training (literacy), confidence, and access to specialists and resources. These barriers are especially pronounced among the Southeast region of the US. To catalyze significant advances in genomic medicine and make it an integral part of healthcare for clinical populations, we propose to create the Southeast Regional Genomic Medicine eConsult Service (SEGEMS), led by the University of Alabama at Birmingham (UAB) and Vanderbilt University Medical Center (VUMC). This clinical and research collaborative will build on separate well-established eConsult services to conduct outreach, promotion and education and provide comprehensive genomic medicine eConsults (GM-eConsults) to all communities. We have identified community partners providing care to clinical populations across the region. This effort aims to reach beyond the 5 million patients receiving care at our institutions, to over 12 million residents in Alabama and Tennessee, and surrounding regions to create a sustainable service scalable to over 1,000 GM- eConsults per year. We will evaluate the implementation of SEGEMS using the Reach Effectiveness Adoption Implementation Maintenance (RE-AIM) Framework, assessing the technology usability, reach, adoption, sustainability, and clinical impact of the eConsult service using mixed methods across the two major EHR vendor platforms, Epic (VUMC) and Cerner (UAB). We will develop, test, refine, and share a transferable and sustainable implementation toolkit to support subsequent dissemination of the genomic eConsult service to other organizations. Guided by an integrated Consolidated Framework for Implementation Research (CFIR), we will identify barriers and facilitators to implementation of genomic eConsult services and develop a transferable set of best practices to assist with future implementations. We will use mixed methods to gather data on key components of success for implementation. We will use and share the toolkit to widely disseminate genomic eConsult services for use by other organizations. We bring together an experienced investigative team with established history of collaboration and leadership in national genomic medicine efforts. We leverage our expertise in genomics (including clinical genetics, cardio-genomics, cancer genetics (germline and somatic), pharmacogenomics, maternal-fetal medicine, genetic counseling, nephrology, neurology, and primary care), informatics, implementation science and telehealth and eConsults to create, implement, expand, and evaluate a region-wide genomic medicine eConsult service.
