ABSTRACT NUMBER: ESOC2026A1666 BUILDING THE FUTURE OF PRECISION MEDICINE IN STROKE MANAGEMENT: DESIGN AND COHORT PROFILES OF THE GENESIS-K STUDY

Abstract Background and aims Given that current stroke guidelines do not fully reflect individual variability across highly heterogeneous phenotypes, the GENESIS-K project aims to build a multi-dimensional cohort to facilitate personalized stroke care through pharmacogenomics. Methods The study enrolls clinical and genomic data from ≥10,000 patients leveraging a nationwide, multicenter prospective stroke registry. Enrollment occurs via random sampling or investigator selection (e.g. antithrombotic failure). Genotyping uses the Infinium Asian Screening Array, with additional pharmacogene variants. Results for key pharmacogenes (clopidogrel, statin, warfarin) and important non-pharmacogenes (RNF213, NOTCH3, APOE) are reported to physicians. Education of physicians for interpretation and clinical implementation of genomic results has been conducted regularly. Integration of clinical, genomic, neuroimage, and long-term outcome databases provide a robust platform for genome-wide association studies and development of polygenic risk score to investigate stroke incidence and prognosis, and individual medication response. Results During Oct 2023-Nov 2025, 5,328 patients (99% ischemic stroke) were enrolled across 30 centers (57% by random allocation). Key variant frequencies (CYP2C19, SLCO1B1, RNF213 and NOTCH3) were higher than those in the UK Biobank East Asian population. A physician survey indicated ~80% utilization of genomic reports, particularly for clopidogrel prescribing. Conclusions The GENESIS-K study establishes a nationwide multi-faceted stroke cohort, laying the foundation for implementing precision medicine in stroke management. Conflict of interest This research was supported by a grant of the Korea Health Technology R&D Project (grant number: RS-2024-12345678), and the Korea Health Technology R&D Project (grant number: HI22C0454) through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea. The funding sources did not participate in any part of the study, from conception to article preparation.