CzechGEN is a project created for Eropean Healthcare Hackathon 2023.
Pathology is bridge between science and medicine. Can you break the ice between complex genomic data and cancer researchers? Find the courage to take up a challenge that aims to tackle the issue of efficient processing and use of sequential data. You can fundamentally change current practice.
A critical gap in genomic research exists in the Czech Republic, as there is no unified database for Next-Generation Sequencing (NGS) data. The absence of a centralized platform impedes our understanding of genome mutations specific to the Czech population, hinders access to crucial clinical studies, and complicates the identification of optimal medications. Moreover, the lack of effective communication among Czech labs further exacerbates the issue, with data scattered across multiple XLSX files in various formats, impeding comprehensive data analysis.
Introducing an advanced genomic data management solution addresses the complexities outlined in the problem statement. First, a robust data model ensures standardized representation of NGS data, setting the foundation for coherence. The platform for managing NGS data offers local storage capabilities, mitigating legal concerns and allowing seamless utilization. Embracing FHIR ensures a consistent standardization approach. Furthermore, the system is designed to be flexible, accommodating various DG formats utilized in diverse laboratories. The core of the solution lies in a unified Czech portal for NGS data analysis, reminiscent of the successful cBioPortal model. This portal not only centralizes data but also provides a user-friendly interface for researchers. It integrates seamlessly with the standardized data model, fostering collaboration and easing the exchange of information among labs. This comprehensive solution is poised to revolutionize genomic research in the Czech Republic, offering efficiency, standardization, and accessibility in NGS data management and analysis.
The establishment of a Czech-specific genomic data portal has far-reaching implications for advancing scientific understanding and healthcare. This platform facilitates comprehensive data collection and analysis, empowering researchers with deeper insights into genomic mutations specific to the Czech population. With enhanced access to clinical studies, decisions on medication development become more informed, contributing to targeted therapeutic solutions. The platform's standardization and compatibility with FHIR not only enable seamless data sharing but also foster collaboration among labs. As a result, pathologists' work becomes more effective, translating to elevated standards of patient care and propelling forward the collective knowledge and research on cancer and genomics.
The proposed solution showcases exceptional feasibility. A proto-prototype was swiftly developed within 48 hours, demonstrating the agility and efficiency of the concept. Leveraging the well-established FHIR standard ensures a solid foundation for scalability and interoperability. Transitioning to production is seamless, facilitated by the integration with InterSystems products, guaranteeing a smooth and rapid implementation. The minimal adjustment required for the current workflow translates to a user-friendly system with no learning curve, making adoption straightforward and ensuring immediate benefits.