Grant Number:	5U01HG013796-02 Interpret this number
Primary Investigator:	Buchanan, Adam
Organization:	Geisinger Clinic
Project Title:	Making Genomic Medicine Routine in a Rural Healthcare System
Fiscal Year:	2025

The National Human Genome Research Institute’s 2020 strategic vision charts a path toward an audacious goal – that in 10 years genomic medicine will simply be medicine. Today, though, genomic medicine is neither routine nor widely distributed. Contributing factors include lack of structured genomic data in the electronic health record (EHR) to facilitate point-of-care decision support, limited portability of genomic data across health systems, and provision of genomic medicine in specialty clinics that are not easily accessible in rural and other communities. We propose to address these challenges as a Clinical Site in the Genomic-Enabled Learning Health System (gLHS) Network. We will use implementation science methods and learning health system (LHS) principles to generate genomic medicine resources that can be implemented effectively across healthcare settings. We are well positioned to contribute substantively to the Network and its goals. Geisinger provides care in all medical specialties across the lifespan to a largely rural patient population. Our LHS is enabled by a robust research, innovation and data infrastructure. Further, our investigator team includes national leaders in genomic medicine implementation, experts in genomic and clinical data science, health communications, and decision science, and two physicians representing community healthcare systems. In Year 1 of the gLHS Network we will propose complementary genomic medicine interventions that aim to have significant population health impact through efficient implementation across healthcare settings: 1) genomic screening in primary care for clinically actionable disease risk; 2) EHR-integrated implementation of PGx for patients age 50+ on multiple medications; and 3) EHR-integrated clinician- and patient-facing clinical decision support for managing genetic disease risk. In Years 2-4 we will implement and evaluate the genomic medicine interventions selected by the Network. We will use the Conceptual Model of Implementation Research (CMIR) to inform outcomes to assess across the interventions. Grounding this cycle of implementation and evaluation in the CMIR will allow us to take the same theoretical approach regardless of which interventions the Network selects. And it will allow identification of core implementation elements and documentation of institution-specific adaptations to standardize outcomes and lower barriers to implementation of future initiatives. In the final grant year, we will use principles of Implementation Mapping and of a sustainability framework to inform design of qualitative interviews with key operational and strategic leaders in our community partners’ healthcare settings. We will then adapt the Network-selected resources and implementation strategies according to findings from the qualitative interviews, using implementation science frameworks to document adaptations to resources and strategies. Through the gLHS Network, we and the other Clinical Sites will substantially advance NHGRI’s audacious goal of routine genomic medicine across healthcare settings.