Genome Anonymization via Segmentation and Linkage Records

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Solution Overview

Problem

Existing technologies are poorly equipped to manage and process genome sequences and associated information in a way that prevents individual identification and minimizes discrimination, particularly in compliance with regulations like HIPAA.

Innovation Solution

The development of methods and systems that segment genome sequences, use anchor segments to minimize storage space, generate linkage records and anonymized linkage records, and process genetic study results to maintain anonymity and prevent discrimination.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Adaptability or versatility

If genome sequences and associated information are stored and processed in databases for genetic studies, then research capabilities and personalized medicine applications are improved, but privacy breaches and individual identification risks increase

Engineering Contradiction:
Improvegenetic study capabilitiesVSAvoidprivacy breach risk
Core Design Contradiction:
Adaptability or versatilityVSObject-affected harmful factors

Solution Approach 1:

The patent divides genome sequences into segments and associates them with linkage records that point to organizational units containing associated information. This segmentation isolates genetic data from identifying information, allowing research while preventing re-identification. The linkage records create a layered structure where genome segments are separated from personal identifiers.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent introduces linkage records as intermediary elements between genome segments and associated information. These linkage records act as mediators that enable access to genetic data without exposing identifying information. The organizational units serve as intermediate containers that hold associated information separately from the genome sequences.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Productivity

If linkage records are generated to associate genome segments with organizational units, then data organization and access efficiency are improved, but system complexity increases

Engineering Contradiction:
Improvedata access efficiencyVSAvoidsystem structure complexity
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The patent segments the data structure into distinct components: linkage records, organizational units, and genome segments. This segmentation allows each component to serve a specific function and simplifies the overall system by breaking down complex data relationships into manageable pieces that can be processed independently.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The linkage records serve multiple functions: they associate genome segments with organizational units, enable efficient data access, maintain privacy by separating identifying information, and support various types of queries. This multi-functionality reduces the need for separate systems and simplifies the overall architecture.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Data Source

PatentUS20250045456A1Methods and systems for anonymizing genome segments and sequences and associated information
Publication Date: 2025.02.06 HUANG ETHAN
  • US20250045456A1 patent drawing
  • US20250045456A1 patent drawing
  • US20250045456A1 patent drawing

AI summary

Various methods and systems for processing at least some of genome sequences and at least some of associated information, for an individual, may include one or more of: segmenting genome sequences for at least a purpose of anonymizing genome information; using anchor segments for a purpose of minimizing electronic storage space in storing of genetic sequence information; generating at least one linkage record; generating at least one anonymized linkage record; processing a request for genetic study results; processing genetic study results received; and/or generating personalized information of interest pertaining to the individual. A purpose of such processing may be to prevent, minimize, and/or mitigate against (1) identification of the individual from such genome sequence information and/or from associated information; and/or (2) using such genome sequence information and/or associated information as a basis for discriminating against the individual.