Web Pharmacogenomics Tool Detects Diplotypes for Dosing
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current pharmacogenomics tools face challenges such as failure to consider novel variants, inconsistent haplotype calling due to differing test designs, difficulties in identifying copy number variations, limited compatibility with different genome formats, and a lack of clinical recommendations, which hinder the effective implementation of personalized medication dosing.
Innovation Solution
A web-based pharmacogenomics tool that receives a whole genome sequence file, uses Stargazer to detect diplotypes in specific pharmacogenes, assigns allele functionality, and generates personalized reports with medication recommendations, supporting both hg38 and hg19 formats and integrating data from PharmGKB and CPIC resources.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Productivity
If pharmacogenomic arrays are used for testing, then faster and cost-effective solutions are provided for large sample sizes, but novel variants of potential clinical relevance are not taken into consideration and rare variants are missed
Solution Approach 1:
The patent combines pharmacogenomic array technology with whole genome sequencing to create an integrated testing system. The array provides rapid, cost-effective screening for common variants while WGS detects novel and rare variants that arrays miss, thus merging the advantages of both methods to resolve the contradiction between productivity and measurement precision.
Solution Approach 2:
The patent develops a universal testing approach that can handle both common and rare variants, as well as copy number variations, using a combination of array-based and sequencing-based methods. This multi-functional system addresses the limitation of arrays by incorporating WGS capabilities to detect all types of genetic variations.
2Adaptability or versatility
If different pharmacogenomic test platforms are used, then various testing capabilities are provided, but inconsistent haplotype calling results are obtained for the same alleles
Solution Approach 1:
The patent establishes standardized parameters and criteria for haplotype calling across different test platforms. By defining consistent thresholds, algorithms, and interpretation criteria, the system ensures that the same genetic alleles produce consistent haplotype calls regardless of which platform is used, thus resolving the reliability issue while maintaining adaptability.
3Ease of manufacture
If pharmacogenomic arrays are used, then testing can be performed, but difficulties arise in identifying copy number variations
Solution Approach 1:
The patent uses whole genome sequencing as an intermediary method to detect copy number variations that are difficult to identify with arrays alone. The sequencing data serves as a mediator that provides accurate CNV detection while the array provides the initial screening framework, combining ease of implementation with precise measurement.
Data Source
AI summary
A system and method of providing personalized medication dosing recommendations are provided. The web-based pharmacogenomics tool includes a system and method for analyzing a patient's genomic information and producing a personalized report containing recommendations to adjust medication selection and dosing for the patient based upon known pharmacogenomic interactions. The tool is adapted to receive a whole genome screening file from a user, use Stargazer to detect diplotypes in specific pharmacogenes: assigning allele functionality, phenotype, drug names, and recommended dosage information based upon the detected diplotypes, and generating a personalized pharmacogenomics report including recommendations of medications to use or avoid and/or suggested dosing adjustments. The tool allows users to submit genomic information in either hg48 or hg19 format.