Southeast genomic medicine econsult service (SE-GEMS) - integrating genomic medicine into routine healthcare holds immense promise for improving patient outcomes through more timely testing,…

The National Human Genome Research Institute awarded the University of Alabama at Birmingham $5.825 million under the cooperative agreement U01HG014137 on March 1, 2026, to establish and operate the Southeast Genomic Medicine eConsult Service (SE-GEMS) under the Human Genome Research program (CFDA 93.172).

SE-GEMS delivers comprehensive genomic medicine electronic consultations (GM-eConsults) to healthcare providers and patients across Alabama, Tennessee, and surrounding regions, with the service designed to reach over 12 million residents and scale to over 1,000 GM-eConsults annually. The service builds on existing econsult infrastructure at UAB and Vanderbilt University Medical Center (VUMC) to address barriers to genomic medicine adoption, including gaps in provider training, confidence, and access to genomic specialists. UAB and VUMC jointly lead the clinical and research collaborative, operating across both Epic (VUMC) and Cerner (UAB) electronic health record platforms.

The project includes evaluation of implementation using the RE-AIM framework to assess technology usability, reach, adoption, sustainability, and clinical impact across both EHR systems. UAB and VUMC will develop, test, refine, and distribute a transferable implementation toolkit to support replication and dissemination of the genomic econsult service to other healthcare organizations, guided by the Consolidated Framework for Implementation Research (CFIR). The cooperative agreement includes identified community partners providing care to clinical populations across the region.

The period of performance runs from March 1, 2026 to February 29, 2028. Work is performed in Birmingham, Alabama. Vanderbilt University Medical Center is a sub-recipient under the award (sub-award U01HG014137-SUB00000292, awarded June 23, 2026), contributing clinical and research collaboration to deliver genomic medicine econsults across the regional service.

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.