Serpin Mutation Detection for Immunotherapy Response Prediction
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Solution Overview
Problem
Current cancer immunotherapy methods, such as immune checkpoint inhibition, face challenges in predicting which patients will respond favorably, particularly for those with serpin mutations, as existing treatments lack specificity and efficacy in targeting these genetic alterations.
Innovation Solution
The development of methods to detect serpin mutations, specifically in SERPINB3 and SERPINB4, through exome sequencing, which identifies patients likely to respond to immune checkpoint modulation therapies like anti-CTLA4 treatment, enabling personalized treatment approaches.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If immune checkpoint inhibition therapy is applied to all cancer patients, then some patients may experience therapeutic benefit, but the majority of patients do not respond favorably due to inability to predict responders
Solution Approach 1:
The patent applies preliminary action by performing exome sequencing and identifying serpin mutations in patients before administering immune checkpoint inhibition therapy. This advance genetic characterization enables clinicians to predict which patients are likely to respond favorably to the therapy, allowing for informed treatment decisions prior to therapy administration rather than discovering response status after treatment has begun
Solution Approach 2:
The patent introduces serpin mutation status as an intermediary biomarker that mediates between the patient's genetic makeup and the response to immune checkpoint inhibition therapy. This molecular intermediary provides a measurable indicator that connects the complex immune system interactions to a specific, detectable genetic feature that can guide treatment selection
2Adaptability or versatility
If existing cancer treatments are used, then treatment can be administered broadly, but the treatments lack specificity for patients with serpin mutations
Solution Approach 1:
The patent applies local quality by tailoring the treatment approach to the specific genetic characteristics of individual patients. Rather than applying a uniform treatment protocol to all patients, the invention identifies patients with serpin mutations through exome sequencing and directs immune checkpoint inhibition therapy specifically to this subgroup, providing localized, genotype-matched treatment that enhances specificity while maintaining overall system efficiency
3Measurement precision
If exome sequencing is performed to detect serpin mutations, then patients likely to respond to immunotherapy can be identified, but the detection process becomes more complex
Solution Approach 1:
The patent applies the taking out principle by extracting and focusing specifically on serpin gene mutations from the comprehensive exome sequencing data. Rather than requiring interpretation of all possible genetic variations, the invention isolates the specific serpin mutation markers that are predictive of immune checkpoint inhibition response, simplifying the detection process while maintaining high measurement precision for treatment response prediction
Data Source
AI summary
Molecular determinants of cancer response to immunotherapy are described, as are systems and tools for identifying and/or characterizing cancers likely to respond to immunotherapy.