QCI Interpret
for BRCA

 

99.6% concordance with ENIGMA BRCA classifications

 

The ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium was founded with the purpose of sharing data and resources to determine the clinical significance of variants in BRCA1 and BRCA2.

To date, ENIGMA experts have classified over 6,154 unique BRCA variants and these well-curated classification rules stand as the international best-practice for BRCA variant interpretation.

 

 

 

Report BRCA variants with expert-panel confidence

 

For clinical labs starting or scaling BRCA testing in-house,

QCI Interpret provides transparent automation of BRCA variant assessments

with 99.6% concordance to ENIGMA expert classifications.

 

QCI Interpret is a clinical decision support platform that automates, accelerates, and advances the interpretation and reporting of genetic variants.
To validate the automated accuracy of QCI Interpret, we compared the concordance of QCI Interpret’s variant classification with the ENIGMA expert panel.

6,154 Unique Expert-Classified BRCA Variants

In the classifications where QCI Interpret differed, only 0.4% indicated alternate clinical decisions* and only 0.05% (3 out of 6,154) could affect clinical decisions**.

*likely benign vs. benign; pathogenic vs. likely pathogenic; VUS vs. benign; VUS vs. likely benign

**pathogenic vs. VUS; likely pathogenic vs. likely benign; likely pathogenic vs. benign


 
 
 
 
 

Report BRCA variant classifications with expert-panel confidence

 
 
Similar to the ENIGMA consortium, QCI Interpret brings together all the global resources necessary to help you best determine—through evidence—the clinical actionability of BRCA variants.
 
 
Computed variant classifications are accompanied by ACMG/AMP strength-level specifications and links to the supporting evidence sourced from the QIAGEN Knowledge Base.

 

 
 
 

Try QCI Interpret for BRCA

Request your free, no obligation, demonstration of QCI Interpret for BRCA today.

 

 
 

*QIAGEN Clinical Insight (QCI) is an evidence-based decision support software intended as an aid in the interpretation of variants observed in genomic sequencing data. The software evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels, and clinical-trials. Based on this evaluation, the software proposes a classification to aid in the interpretation of observed variants. The software is NOT intended as a primary diagnostic tool by physicians or to be used as a substitute for professional healthcare advice. Each laboratory is responsible for ensuring compliance with applicable international, national, and local clinical laboratory regulations and other specific accreditations requirements.

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