IFNAR2 SNP Screening to Predict Type I Interferon Response
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Solution Overview
Problem
Existing therapies using type I interferons, such as interferon alpha or beta, face challenges due to genetic differences in molecular pathways, leading to variable bioactivity and efficacy, with over 50% of patients not responding, especially in conditions like multiple sclerosis, acute respiratory distress syndrome (ARDS), and other life-threatening conditions, necessitating a means to predict patient responsiveness.
Innovation Solution
A method involving a genetic test to determine the presence of single nucleotide polymorphism (SNP) rs9984273 (C/T) in the interferon alpha and beta receptor (IFNAR2) to predict responsiveness to type I interferon therapy, particularly when combined with corticosteroids, using assays like TaqMan SNP genotyping to classify patients and personalize treatment.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If type I interferon therapy is administered to all patients, then some patients may benefit from treatment, but over 50% of patients do not respond due to genetic differences in molecular pathways
Solution Approach 1:
The patent applies preliminary action by performing genetic testing for SNP rs9984273 in the IFNAR2 gene before administering type I interferon therapy. This pre-treatment genetic screening identifies patients with the responsive genotype (TT or TC) versus non-responsive (CC), allowing clinicians to predict treatment outcome in advance and avoid administering ineffective therapy to non-responders, thereby resolving the contradiction between treating potential beneficiaries and avoiding waste on non-responders
Solution Approach 2:
The patent applies local quality by differentiating patient populations based on their specific genetic characteristics at the IFNAR2 locus. Instead of applying a uniform treatment approach to all patients, the therapy is targeted to those with the specific responsive genotype (TT or TC), recognizing that different genetic subpopulations have different responses to the same treatment. This localized approach based on genetic heterogeneity resolves the contradiction by concentrating treatment resources on the responsive subset
2Reliability
If genetic testing is performed to identify responsive patients, then treatment effectiveness is improved, but the complexity of the treatment protocol increases
Solution Approach 1:
The patent applies the taking out principle by extracting the decision-making complexity from the clinical treatment protocol and placing it in a simple genetic test. Instead of requiring complex clinical assessments, repeated measurements, or sophisticated monitoring to determine patient responsiveness, the patent isolates the predictive function into a single genetic marker (SNP rs9984273) that can be tested once before treatment. This extraction simplifies the overall protocol while maintaining high reliability in predicting treatment response
Solution Approach 2:
The patent applies parameter changes by shifting from complex clinical phenotypic assessments to a simple genotypic parameter (SNP rs9984273) for predicting treatment response. By changing the predictive parameter from multiple clinical variables requiring ongoing assessment to a single static genetic marker, the patent reduces protocol complexity while maintaining or improving prediction reliability. The binary classification (responsive TT/TC vs. non-responsive CC) further simplifies the parameter interpretation
Data Source
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AI summary
A method for determining a patient's responsiveness to a therapy comprising administration of type I interferon in order to make the decision to treat a patient with type I interferon and use of a SNP rs9984273 (C/T) in IFNAR2 as a marker for determining patients' responsiveness to said therapy.