Cloud Genomic Data Exchange System for Secure Clinical Variant Sharing
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Solution Overview
Problem
Current systems for exchanging information on clinical implications of genomic variations are inefficient, particularly for targeted cancer therapies, as they lack standardized and secure methods for sharing data across institutions, leading to challenges in identifying suitable treatments for patients with rare genetic variants.
Innovation Solution
A method and device utilizing a cloud-based client-server system with encrypted data connections, allowing authorized users to securely save and retrieve context-related datasets on genomic variations, ensuring that only authorized users receive relevant information during search queries.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Adaptability or versatility
If in-house customized database systems are used for exchanging somatic variant annotations, then data exchange between doctors within the same institution is enabled, but data sharing across different institutions remains limited and inefficient
Solution Approach 1:
The patent implements a universal database system that can store and exchange multiple types of genomic data (somatic variants, germline variants, copy number variations, rearrangements) and supports multiple query methods (genomic coordinates, gene names, variant names). This multi-functional database enables diverse data exchange needs to be met through a single system, resolving the contradiction between data sharing versatility and system complexity.
Solution Approach 2:
The patent introduces a standardized database interface that acts as an intermediary between different institutions' data systems. This interface enables seamless data exchange across institutional boundaries by providing a common language and protocol, allowing doctors at different institutions to access and share genomic data without direct integration between their respective systems.
2Adaptability or versatility
If off-label prescription of anti-cancer drugs is practiced for patients with specific somatic variants, then treatment options for advanced cancer patients are expanded, but difficulty in identifying suitable treatments increases due to lack of clinical evidence
Solution Approach 1:
The patent enables preliminary action by allowing doctors to query the database for existing clinical evidence and case reports before making treatment decisions. The system pre-organizes data by genomic variations and associated treatments, enabling doctors to quickly retrieve relevant clinical information and make informed off-label prescription decisions with greater reliability.
Solution Approach 2:
The patent implements feedback mechanisms where treatment outcomes and new clinical evidence are continuously added to the database. This creates a feedback loop where successful off-label treatments are documented and become available for other doctors to reference, progressively improving treatment selection reliability through accumulated clinical experience.
3Reliability
If clinical evidence is collected for drugs targeting rare genetic variants through traditional methods, then treatment recommendations can be established, but the process becomes challenging and time-consuming
Solution Approach 1:
The patent merges multiple data sources and evidence types (case reports, clinical trials, literature publications, expert opinions) into a single integrated database. This consolidation allows clinical evidence for rare genetic variants to be collected and evaluated from multiple sources simultaneously, significantly reducing the time required while maintaining high evidence quality through systematic evaluation.
Solution Approach 2:
The patent enables preliminary action by pre-organizing and indexing clinical evidence by genomic variations, making it immediately searchable and accessible. When a rare genetic variant is identified, relevant clinical evidence is already structured and available for quick retrieval, eliminating the need for time-consuming manual literature searches and evidence synthesis.
Data Source
AI summary
A method and a device are for exchanging information regarding the clinical implications genomic variations. In an embodiment, the method includes receiving login-data of a user; evaluating the login-data received; establishing an encrypted data connection to the user after the evaluating indicates a positive evaluation of the login-data; saving, upon receiving a dataset in a context of a genomic variation, the dataset received in a memory, context-related with the genomic variation; and evaluating, upon a user request being received and connected with a search query for the genomic variation, a set of datasets from the memory, the datasets being context-related with the genomic variation and the set including the datasets that the user is authorized to receive, and sending the set of datasets to the user.