Thromboembolic disease markers

Inventors

Salas, Eduardo • Soria, José Manuel • Ogorelkova, Miroslava • Elosua, Roberto • Vila, Joan S. • Castillo, Sergio

Assignees

Genincode Plc

Abstract

The invention relates to a method for a more appropriate thromboembolic event risk assessment based on the presence of different genetic variant. The invention also relates to a method for determining the risk of suffering a thromboembolism disease by combining the absence or presence of one or more polymorphic markers in a sample from the subject with conventional risk factors for thromboembolism as well as computer-implemented means for carrying out said method.

Core Innovation

The patent relates to thromboembolic risk assessment and diagnostic assistance by using genetic variants and conventional sociodemographic/clinical risk factors to generate personalized probabilities for thromboembolic events, including first and recurrent thromboembolic events. The genetic component is based on a genetic panel of specified thrombotic polymorphisms, and is combined with non-genetic risk factors to support individualized risk estimation.

The problem addressed is that existing laboratory assays and conventional risk-factor approaches have limitations, and there is a need for improved prediction and diagnosis of thromboembolic disease/disorder. The disclosed framework uses an algorithmic approach in which a genetic risk score derived from the selected multi-SNP risk score is incorporated into a predictive model to estimate probabilities and assist diagnosis.

The disclosure further describes nucleic-acid detection concepts for allele determination, including PCR/microarray-style allele detection using HairLoop probes and allele-specific probes, and it references detection using specific primer-related elements identified by SEQ ID NOs in the associated content. Performance is reported with predictive comparison versus factor V Leiden/prothrombin alone, including reported odds ratios and discrimination/improvement statistics in the MARTHA and PE cohorts.

Claims Coverage

Not explicitly described in patent: the independent claim set is not provided beyond clm-00001 in the partial content. In the partial content, one independent claim is identified: clm-00001. Its coverage is focused on a kit composition defined by labeled primer pairs.

Based on the partial content, claim coverage is limited to a kit defined by primer pairs identified as SEQ ID NOs 1-24 with each primer labeled with a detectable dye. No additional independent claims are explicitly provided in the partial content.

Stated Advantages

Documented Applications

No documented applications found