The future of electronic health record-based research: Leveraging informatics in genetic counseling research

As health care embraces learning health systems, data-oriented approaches provide a path for genetic counselors to actively contribute to improving clinical care through evidence-driven insights. The informatics-driven querying of electronic health record (EHR) data in genetic counseling has the potential to advance clinical practice, quality improvement, and research. This paper examines the opportunities and challenges associated with leveraging EHR data in genetic counseling, with a focus on practical, collaborative, and future-oriented applications. Quality improvement initiatives focused on identifying eligible patients for genetic services, assessing access and uptake patterns, and evaluating genetic testing outcomes serve as a natural gateway to research. Here, we demonstrate how genetic counseling professionals can use EHR data to conduct research that drives impactful changes in patient care and service delivery. By highlighting key applications and identifying areas for future exploration, this paper argues that EHR-based research represents not only a practical solution to current challenges but also the future of genetic counseling inquiry. This approach promises to unlock new opportunities to measure and enhance the effectiveness, equity, and accessibility of genetic counseling services.