Vanderbilt Genomic Learning Health System Clinical Site - PROJECT SUMMARY Advances in population-scale genetic data linked to the electronic health record (EHR), along with the rise of learning health systems (LHS) to enable the rapid translation of new knowledge to clinical care, have brought us to the threshold of revolutionizing healthcare by using genomic medicine to predict and prevent diseases. To cross this threshold, there is a need for a robust infrastructure to support the integration of existing genome science advances into clinical care, and to evaluate outcomes of that integration. We propose here the Vanderbilt Genomic Learning Health System as a Clinical Site in the genomic LHS (gLHS) Network. Work in our clinical site will be implemented in diverse settings and in underserved populations with stakeholder partners at Vanderbilt and the University of Miami Hospital and Clinics. Our team brings expertise in delivery of care, basic and clinical genome science, and implementation science, and is part of an institutional environment with recognized capabilities in integrating genomic data into the EHR, in genomic medicine, and in clinical informatics, and includes a robust and productive LHS. The Network’s initial activity will be to select specific projects and implementation strategies for the group. We outline three potential high-value projects each of which builds on our team and institutional accomplishment: (1) using advanced EHR-based phenotyping to increase identification of monogenic disorders, (2) using family health history to identify patients at high disease risk due to actionable hereditary disease-causing mutations, and (3) personalizing genomic- based laboratory reference ranges to avoid needless testing and increase equity in clinical medicine. We are well-positioned to contribute to other Network-chosen projects, given our comprehensive clinical environment and expertise in multiple domains of genomic medicine that are in advanced stages of institutional implementation; these include pharmacogenomics, cancer genomics, and sequencing in the setting of critical illness and in disease-specific genetics clinics. In our Aim 1, we will share our resources and expertise with the Network to develop a data-driven framework for selecting proposed gLHS interventions and strategies. Aim 2 will incorporate the selected interventions into clinical practice, using a multi-component implementation strategy with stakeholder engagement. Aim 3 will evaluate the effectiveness and implementation of each gLHS intervention within our health system and across the Network, followed by refinement and re-implementation. By identifying, implementing, and critically evaluating high value interventions across multiple and diverse practice settings, the gLHS network represents a crucial next step in the maturation of the discipline of Genomic Medicine.
