JMIR Publications

ABSTRACT

Electronic health records (EHRs) are central to patient-centered care. However, most current systems are not designed to represent, exchange, and reuse genomic information in a structured and clinically actionable form. This gap limits the full potential of genomics in everyday clinical practice. In this review, we explore how integrating genomic information into EHRs can support the transition toward precision and personalized medicine. We highlight how this integration can enhance diagnostic accuracy, enable pharmacogenomics-informed prescribing, strengthen clinical decision support, and unlock the value of longitudinal health data for research. At the same time, we examine the key challenges that continue to hinder implementation. These include inconsistent reporting formats, limited interoperability, the evolving nature of variant interpretation, gaps in workforce readiness, and important ethical and legal considerations. Building on current literature and the outcomes of the Gen2EHR Implementation Guidelines Workshop, conducted within the Xt-EHR and EHDS2nd initiatives, we propose a practical roadmap for genomics-enabled EHRs. The roadmap emphasizes the HL7 FHIR Genomics Reporting Implementation Guide, standardized vocabularies for variants, phenotypes, laboratory tests, clinical significance, robust governance, version control, and GDPR-aligned data protection. Concluding, we argue that moving beyond static PDF reports toward structured genomic data within EHRs is essential. Such an approach enables continuous reinterpretation of genomic findings, supports actionable clinical decision-making, and facilitates secure data sharing at both national and cross-border levels within the European Health Data Space.