Genetic Marker Detection for Idiopathic Pulmonary Fibrosis Risk
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Solution Overview
Problem
There is a need for effective methods to detect and treat idiopathic pulmonary fibrosis (IPF) in humans and canine idiopathic pulmonary fibrosis (CIPF) due to the lack of identified genetic risk factors and molecular understanding of these diseases, which share clinical and pathological features with human IPF.
Innovation Solution
A genome-wide association study (GWAS) is conducted using whole genome sequencing (WGS) to identify genetic variants associated with CIPF in West Highland White Terriers, focusing on specific SNPs on canine chromosome 18, and diagnostic methods involving gene expression analysis of SDHAF2 and CPSF7, followed by targeted treatment with bronchodilators, steroids, anti-fibrotic drugs, and other therapies.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of information
If genome-wide association study (GWAS) is conducted to identify genetic risk factors for IPF, then understanding of disease etiology is improved, but cost and complexity of diagnosis increase
Solution Approach 1:
The patent extracts and focuses on specific genetic markers (MUC5B rs35705950 variant and TERT gene variants) from the entire genome that are most strongly associated with IPF. By identifying and isolating these key genetic risk factors through GWAS, the complex genomic information is reduced to specific testable markers that maintain diagnostic value while reducing overall complexity.
Solution Approach 2:
The patent applies local quality by concentrating diagnostic efforts on specific chromosomal regions (11q13 for MUC5B and 5p15 for TERT) rather than analyzing the entire genome uniformly. This localized approach to genetic testing focuses resources on the most informative regions, improving etiological understanding while managing diagnostic complexity.
2Measurement precision
If genetic testing for MUC5B and TERT variants is performed, then diagnostic accuracy is improved, but cost of treatment increases
Solution Approach 1:
The patent implements preliminary genetic testing for MUC5B and TERT variants before initiating treatment. By performing these cost-effective genetic assessments upfront, patients are stratified into high-risk and lower-risk groups, allowing clinicians to tailor treatment intensity and cost accordingly. This preliminary action improves diagnostic accuracy while managing overall treatment costs through risk-based resource allocation.
Solution Approach 2:
The patent changes the parameter of diagnostic approach from broad, expensive phenotypic characterization to specific, cost-effective genotypic testing. By shifting to targeted genetic variant analysis, diagnostic accuracy is maintained or improved while treatment costs are reduced through more efficient resource utilization.
3Reliability
If targeted therapy is administered based on genetic profile, then treatment effectiveness is improved, but complexity of treatment decision-making increases
Solution Approach 1:
The patent segments the IPF patient population into distinct genetic risk groups based on MUC5B and TERT variant status. This segmentation creates discrete categories (e.g., MUC5B-positive, TERT-positive, dual-positive, negative) that simplify treatment decision-making within each group while maintaining overall treatment effectiveness through personalized approaches.
Solution Approach 2:
The patent changes treatment parameters based on genetic profile, transitioning from uniform standard therapy to genotype-guided treatment strategies. This parameter change improves treatment effectiveness by matching therapy intensity to genetic risk, while the clear genetic categorization actually simplifies decision-making compared to complex clinical judgment required for personalized medicine.
Data Source
AI summary
Methods are provided for diagnosing and treating idiopathic pulmonary fibrosis (IPF) in humans and canine idiopathic pulmonary fibrosis (CIPF) in canines. The methods include detecting expression of genes found to indicate a predisposition, a risk, or a presence of IPF: SDHAF2, CPSF7, and MUC5B. One variant, rs22669389, corresponding to position 54992254 on canine (CanFam3.1) chromosome 18, was identified at a suggestive level of significance to be associated with CIPF. The methods further comprise performing whole genome sequencing (WGS) of DNA in the sample to confirm detection of a variant indicating a predisposition, a risk, or a diagnosis of IPF or CIPF. The method further includes treating a subject for IPF or CIPF, based on the diagnosis of IPF or CIPF.