Making Genomic Data Actionable in Electronic Health Records: Practical Viewpoint on Standards, Governance, and Implementation.

Electronic health records (EHRs) are central to patient-centered care. However, many current EHR systems do not represent, exchange, or reuse genomic findings in structured, interoperable, and clinically actionable forms. Instead, genomic results are often retained in static reports. This limits their use in routine clinical care and clinical decision support. It also restricts their future reinterpretation as scientific knowledge evolves, as well as their reuse for research within appropriate governance frameworks. To support precision and personalized medicine, we advocate that clinically relevant genomic findings should be represented within EHRs as structured, phenotype-linked, interoperable, and versioned data. Raw and intermediate genomic files, however, should remain in appropriately governed laboratory or genomics repositories. This viewpoint is intended for health policymakers, health informatics leaders, EHR developers, research and clinical genomics laboratories, and clinicians involved in implementing genomics into routine care. It is informed by selected published literature and relevant technical standards. It is also informed by operational experience at the Cyprus Institute of Neurology and Genetics and multidisciplinary discussions from the Gen2EHR Implementation Guidelines Workshop conducted within the Extended EHR@EU Data Space and European Health Data Space for Secondary Use @CY initiatives. We examine technical, organizational, clinical, ethical, legal, and governance challenges, including inconsistent reporting formats and unclear clinical responsibility. We propose a staged, workshop-informed implementation pathway for evaluation within the European Health Data Space. The pathway combines Health Level 7 Fast Health Interoperability Resources Genomics Reporting with complementary standards and terminologies. It also includes transitional dual PDF and structured Fast Health Interoperability Resources reporting, governance for access, version control, reinterpretation, and clinical responsibility, as well as multidisciplinary pilot validation in real diagnostic workflows. The clinical effectiveness and transferability of the proposed pathway across European health systems remain to be established.