From research to clinic: using BPMN for implementation and iterative improvement of polygenic risk score analysis workflows

Polygenic risk scores (PRS) have emerged as a promising tool for assessing the genetic risk of complex diseases. However, the lack of standardized workflows to guide multidisciplinary teams in deploying PRS analyses poses a barrier to their clinical adoption. In addition, persistent methodological, technical, and knowledge barriers must be addressed. Bridging this research–practice gap therefore requires explicit modeling of current PRS implementation processes, but also modeling idealized workflows that incorporate mitigations for existing barriers. Following a Business Process Model and Notation (BPMN) lifecycle approach, our methodology proceeds in two stages: characterizing current practices and defining a future, improved state. First, we conduct a targeted literature search and thematic synthesis of articles describing PRS analysis implementation examples, extracting procedural information and translating it into an AS-IS diagram representing current practices. Second, building on prior research on barriers to translating PRSs into clinical practice, we derive an idealized OUGHT-TO-BE diagram incorporating literature-informed process improvements, accompanied by an actionable checklist to guide organizations in developing intermediate, context-specific TO-BE workflows. Of approximately one hundred screened articles, only four provided sufficient procedural detail. The thematic synthesis resulted in 49 actions, 18 tasks and three core sub-processes: creation, validation and execution of a PRS analysis pipeline. This formed the basis of the AS-IS diagram, which formalizes tasks, stakeholder roles, and data flows. The OUGHT-TO-BE diagram addresses the identified barriers with targeted process improvements, introducing 17 modifications. The accompanying 27-item checklist operationalizes these improvements, providing actionable guidance for transitioning toward intermediate TO-BE workflows. In this work we standardized current practices and proposed structured pathways for improvement, providing a foundational roadmap for integrating PRS analyses into clinical practice. The BPMN diagrams together with the actionable checklist allow for implementation and iterative improvement of workflows, aligning with specific purposes of implementation science frameworks.