Genomic Variant Encoding for Secure Low-Volume Data Transfer

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Solution Overview

Problem

The transfer of large amounts of genomic data over unsecure networks poses privacy and security concerns due to its sensitivity and volume, with existing techniques failing to adequately address the specific characteristics of genomic data and quality of the information being transferred.

Innovation Solution

A system and method that reduce and encode genomic data by comparing variants to a database of known variants, removing redundant data, and using cyclic encoding and encryption to securely transfer variant call files, with a transmit station processing and encrypting the data and a receive station decrypting and inflating it for reconstruction.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Ease of manufacture

If genomic data is transferred over unsecure networks, then transfer cost and accessibility are improved, but security and privacy are compromised

Engineering Contradiction:
Improvetransfer accessibilityVSAvoiddata security
Core Design Contradiction:
Ease of manufactureVSReliability

Solution Approach 1:

The patent applies preliminary action by encrypting the genomic data before transfer and preparing the decryption key separately. The data is processed through cyclic encoding and encryption operations prior to transmission over the unsecure network, ensuring security is established in advance rather than relying on the network itself being secure.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent introduces cryptographic intermediaries (encryption algorithms, cyclic encoding schemes, and key management systems) that mediate between the genomic data and the unsecure network. These intermediaries protect the data during transmission without requiring the network infrastructure itself to be secure.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Loss of information

If all variant data is encoded and transferred, then complete data integrity is maintained, but data size and transfer time increase

Engineering Contradiction:
Improvedata completenessVSAvoidtransfer time
Core Design Contradiction:
Loss of informationVSLoss of time

Solution Approach 1:

The patent extracts and removes redundant information from the genomic data through cyclic encoding that eliminates repetitive patterns. By taking out redundant data elements while preserving essential genetic information, the system reduces data size for transfer while maintaining the ability to reconstruct complete information at the receiving end.

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent changes the parameter representation of genomic data by transforming it into cyclic coordinates and applying encryption. This parameter transformation compresses the data representation while preserving the underlying genetic information, enabling faster transfer without permanent loss of data completeness.

Inventive Principle:
Principle #35Parameter changes

3Productivity

If data is compressed by removing annotations, then transfer efficiency is improved, but data quality and analytical value decrease

Engineering Contradiction:
Improvetransfer efficiencyVSAvoiddata quality
Core Design Contradiction:
ProductivityVSMeasurement precision

Solution Approach 1:

The patent performs preliminary compression through cyclic encoding that removes redundant annotations while preserving essential data quality. The encoding process is designed to maintain analytical value by preserving the structural and functional information needed for genetic analysis, even after compression.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent changes the parameter representation to cyclic coordinates, which inherently compresses the data by eliminating redundant positional information while maintaining the precision needed for genetic analysis. The transformation preserves the essential relationships between genetic elements.

Inventive Principle:
Principle #35Parameter changes

Data Source

PatentEP3224752B1Secure transmission of genomic data
Publication Date: 2022.07.13 KONINKLIJKE PHILIPS NV
  • EP3224752B1 patent drawingFigure 1
  • EP3224752B1 patent drawingFigure 2~3
  • EP3224752B1 patent drawingFigure 4~5

AI summary

The amount of genomic data as well the sensitivity of the information carried necessitates the need to develop smart and efficient ways to transmit genomic data in a secure way. While encryption schemes exist, there is also the need to first reduce the amount of massive information and then apply an encoding and encryption method that will be effective both in the economic sense as well as for security of genomic data. In this invention, we discuss novel techniques to encode processed variant information and send it across to a remote site ensuring covert transmission. The protocols not only encode and encrypts the information; it condenses the information that needs to be transferred.