Genetic Mutation Report Generation with Tentative Pathogenicity Flags
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current methods for determining the level of pathogenicity of genetic mutations in gene panel tests, such as those using the ACMG/AMP guidelines, face challenges in efficiently handling undetermined evaluation items and providing reports that account for potential changes in pathogenicity levels over time, especially when additional information becomes available.
Innovation Solution
A report generating method and device that obtain and evaluate genetic mutation data, apply ACMG/AMP guidelines to determine pathogenicity levels, and generate reports indicating whether the level is tentative based on undetermined items, allowing for updates when additional information is obtained.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If the pathogenicity level is determined based on ACMG/AMP guidelines with multiple evaluation items, then the determination accuracy is improved, but the complexity of the evaluation process increases
Solution Approach 1:
The evaluation process is segmented into two distinct phases: a preliminary automatic evaluation phase that assesses applicable evaluation items based on available data, and a final determination phase that incorporates undetermined items. This segmentation allows the system to handle the complexity of multiple evaluation items systematically while maintaining accurate pathogenicity determination.
Solution Approach 2:
The system performs preliminary evaluation of applicable evaluation items automatically before final pathogenicity determination. By pre-evaluating the items that can be assessed with available data, the system reduces the complexity of the overall evaluation process while ensuring accurate determination by addressing undetermined items in a structured manner.
2Adaptability or versatility
If undetermined evaluation items are included in the pathogenicity determination, then the completeness of evaluation is improved, but the reliability of the determination decreases
Solution Approach 1:
The pathogenicity determination is made dynamic by introducing a tentative flag that indicates whether the determination is based on complete or partial evaluation items. This allows the system to maintain evaluation completeness by including undetermined items while managing reliability through the tentative indicator, which signals that the determination may change as additional information becomes available.
Solution Approach 2:
The tentative flag acts as an intermediary element between the evaluation results and the final determination. It mediates between the completeness of evaluation (including undetermined items) and the reliability of determination, allowing both aspects to coexist by providing a clear indicator of the determination's finality.
3Measurement precision
If the report indicates tentative pathogenicity levels, then the accuracy of information is improved, but the ease of understanding decreases
Solution Approach 1:
The report uses visual indicators (such as asterisks or highlighting) to mark tentative pathogenicity levels, making the uncertainty visually apparent to users. This approach maintains information accuracy by clearly indicating which determinations are tentative while improving ease of understanding through intuitive visual cues that draw attention to the uncertain elements without requiring complex explanations.
Data Source
AI summary
A report generating method generates a report for reporting a level of pathogenicity of a genetic mutation. The report generating method obtains information on a genetic mutation detected in a gene panel test, generates an evaluation result for a plurality of evaluation items based on a first criterion for evaluating each of the evaluation items and at least information on the genetic mutation, determines the level of pathogenicity based on a second criterion for determining the level of pathogenicity and the evaluation result, determines an undetermined item for which the evaluation result is undetermined among the plurality of evaluation items, determines whether the level of pathogenicity is tentative based on a determination result of the undetermined item, and generates a report for reporting the level of pathogenicity according to the determination result of whether the level of pathogenicity is tentative.