Flexible Data Integration for Genomics-Driven Decision Support in Rare Genetic Epilepsy

Studies in health technology and informatics, vol. 335, pp. 89–95

Abstract

BACKGROUND: Precision medicine for complex diseases like epilepsy requires integrating heterogeneous clinical and genomic data but interpreting numerous disease-associated genes remains challenging. OBJECTIVES: How can data from disparate biomedical sources be organized efficiently and flexibly to support precision medicine in early project stages in genetic epilepsy? METHODS: We applied a three-step system design approach tailored for academic medical research, considering project requirements, available resources, and technology selection. RESULTS: The EAV-hybrid model accommodated diverse clinical and genetic data while preserving flexibility for future expansion. Integration with cBioPortal enabled intuitive visualization and interpretation. The design supports future migration to standard CDMs such as OMOP or i2b2. CONCLUSION: A flexible, metadata-driven EAV-hybrid model supports rapid prototyping and structured data integration in early-stage precision medicine projects, providing an infrastructure for molecular boards and clinical decision-making for genetic epilepsies.

Authors 10

1. Ariadna Pérez Garriga Aachen Institute of Medical Informatics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany

2. Philipp Honrath Aachen Section of Epileptology Department of Neurology, Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Section of Epileptology, Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany

3. Stefan Wolking Aachen Section of Epileptology Department of Neurology, Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Section of Epileptology, Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany

4. Beatrice Coldewey Aachen Institute of Medical Informatics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany

5. Susann A. Bozkir Aachen Institute of Medical Informatics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany

6. Nils Freyer Aachen Institute of Medical Informatics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany

7. Patrick May

   University of Luxembourg · Luxembourg Centre for Systems Biomedicine

   Affiliation as printed

   Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg

8. Yvonne Weber Aachen Section of Epileptology Department of Neurology, Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Section of Epileptology, Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany

9. Rainer Röhrig Aachen Institute of Medical Informatics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany

10. Myriam Lipprandt Aachen Institute of Medical Informatics Medical Faculty

    RWTH Aachen University

    Affiliation as printed

    Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany