Enhancing Access to Genomic Expertise: A Comprehensive Implementation Strategy for the Western Regional Genomic eConsult Network (WestGEN)

/Abstract The rapid advancement of genomic medicine holds great promise for improving diagnosis, treatment, and health outcomes across diverse populations. However, the pace of progress has outstripped the ability of many healthcare providers to effectively integrate this knowledge into their practice, a challenge compounded by a limited genetic workforce. As a result, a widening gap has emerged between the potential of genomics and its practical application, particularly in underserved communities where access to genetic expertise is severely constrained. To bridge this divide, electronic consultations (eConsults) have emerged as a promising solution, enabling timely and cost-effective communication between referring providers and genetic specialists, thereby expanding access to critical expertise and support. The University of California, San Francisco (UCSF) proposes to address these gaps in care delivery by establishing the Western Regional Genomic eConsult Network (WestGEN), a comprehensive genomic medicine eConsult service for the Western United States available to both primary care providers (PCPs) and specialists, with an emphasis on supporting underserved populations. WestGEN will conduct studies to support the integration of genetic counselors into the eConsult service, and pilot AI solutions to augment genomic eConsults. The program incorporates research to optimize the delivery of genomic eConsult services and assess its adoption and impact. The specific aims are: 1) Deploy WestGEN across the Western U.S., initially to 239 primary care practices through an existing eConsult platform, and then extend to eConsult-naive practices; establish the role and scope of practice for genetic counselors; and evaluate genomic eConsult utilization and outcomes using mixed methods. 2) Support the expansion of regional genomic medicine eConsult programs nationwide by developing implementation tools and best practices for sustainability. 3) Evaluate an AI-assisted eConsult model to enhance efficiency and scalability. WestGEN brings together experts in genomics, implementation science, eConsults, and machine learning to create a scalable, evidence-based model for genomic medicine eConsults. The project will provide clear evidence on the impact of genomic eConsults on patient outcomes, generate tools for dissemination, and explore an AI-assisted model to improve efficiency and reach. By achieving its aims, WestGEN will enhance access to genomic expertise, provider knowledge, and quality of care, particularly for underserved populations, aligning with NHGRI's mission to implement genomics in clinical care to improve health equity and outcomes for all. Project Number: 1U01HG014145-01 | Fiscal Year: 2026 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: ALEKSANDAR RAJKOVIC (+2 co-PIs) | Institution: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, SAN FRANCISCO, CA | Award Amount: $2,825,743 | Activity Code: U01 | Study Section: Special Emphasis Panel[ZHG1 HGR-W (J1)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11099527