Nucleic Acid Analysis Reporting for Germline Mutation Disclosure Control

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Solution Overview

Problem

Existing methods of analyzing nucleic acid sequences do not adequately address the need to consider and control the disclosure of germline mutations to patients and their relatives, potentially leading to unintended information exposure.

Innovation Solution

A method and system for analyzing nucleic acid sequences that allow for generating reports in different forms, selectively hiding or highlighting germline mutation information based on patient consent and other factors, ensuring controlled disclosure.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Loss of information

If a single unified report format is used to present all mutation information, then the completeness of information is improved, but the patient's privacy and ethical considerations deteriorate due to unintended disclosure of germline mutations

Engineering Contradiction:

Improvecompleteness of mutation informationVSAvoidunintended disclosure of germline mutation

Core Design Contradiction:

Loss of informationVSObject-affected harmful factors

Solution Approach 1:

The patent divides the report into multiple formats: a first report containing only somatic mutation information and a second report containing germline mutation information. This segmentation allows the system to preserve complete information internally while providing selective disclosure to different users, thereby resolving the contradiction between information completeness and privacy protection

Inventive Principle:

Principle #1Segmentation

Solution Approach 2:

The patent applies different quality characteristics to different parts of the reporting system. The first report is designed with a specific quality (somatic mutation focus) appropriate for clinical treatment decisions, while the second report has a different quality (germline mutation focus) appropriate for genetic counseling. This local differentiation allows each report to serve its specific purpose without causing unintended disclosure

Inventive Principle:

Principle #3Local quality

2Adaptability or versatility

If germline mutation information is included in the standard report, then the comprehensiveness of genetic analysis is improved, but the complexity of report management and disclosure control deteriorates

Engineering Contradiction:

Improvecomprehensiveness of genetic analysisVSAvoidreport management complexity

Core Design Contradiction:

Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent implements a dynamic reporting system where the report format can be flexibly switched between first report (somatic only) and second report (including germline) based on patient consent and clinical needs. This dynamic adaptability allows the system to maintain comprehensive analysis capabilities while simplifying report management by providing clear, context-appropriate output formats

Inventive Principle:

Principle #15Dynamics

3Loss of information

If all mutation information is disclosed to patients and doctors, then the transparency of medical information is improved, but the ease of operation deteriorates due to the need for careful consideration and control of disclosure

Engineering Contradiction:

Improvetransparency of medical informationVSAvoidease of disclosure control

Core Design Contradiction:

Loss of informationVSEase of operation

Solution Approach 1:

The patent performs preliminary classification of mutations into somatic and germline categories during the analysis process, before report generation. It also preliminarily determines which report format to use based on patient consent status. This preliminary action automates the disclosure control process, maintaining transparency while improving ease of operation by eliminating the need for manual review and decision-making at the time of report delivery

Inventive Principle:

Principle #10Preliminary action

Data Source

PatentUS12354708B2Analysis method of analyzing a nucleic acid sequence, and a system that analyzes a nucleic acid sequence

Publication Date: 2025.07.08 SYSMEX CORP

AI summary

An analysis method of analyzing a nucleic acid sequence derived from a patient sample with a computer, may include: obtaining analysis data relating to a mutation determined based on nucleic acid sequence data derived from the patient sample; and generating a first report providing information relating to the determined mutation in a first form which is different from a second form of a second report, wherein the second report provides information relating to a germline mutation among the determined mutation in the second form.