The industry-leading NGS variant interpretation and reporting software now includes a new Clinical Validity feature, Dynamic Candidate Disease Identification, NICE guidelines and more
We are pleased to announce that the latest QIAGEN Clinical Insight (QCI) Interpret software release is now available. Expanding on the software’s current capabilities, the update adds new features and guidelines to enhance the interpretation and reporting of genomic variants.
Release Highlights
Clinical Validity
Immediately determine and filter to genes implicated in hereditary diseases that are most relevant to report with Strong or Definitive Clinical Validity. With this new features, users can quickly review clinical validity statements that summarize the evidence supporting the strength of a gene-disease relationship. Gene-disease relationships include those determined by the ClinGen Gene Curation Working Group and are extended to cover all gene-diseases via computing clinical validity based on the ClinGen classification guidelines using the expert-curated and integrated evidence in the QIAGEN Knowledge Base.
Dynamic Candidate Disease Identification from Symptoms
Interactively add and remove symptoms (and diseases) in hereditary workflows at anytime. With this new feature, users can rapidly adjust symptoms if more case information becomes available. The ranking of candidate diseases for variants in the Phenotype Driven Ranking (PDR) view is dynamically updated based on the updated symptoms.
Phenotype Network Diagram
Review curated evidence supporting each candidate disease for a case in the hereditary workflow with the Phenotype Network—a new feature that provides a summary of the gene-disease clinical validity and a visual diagram of the paths via QIAGEN Knowledge Base relationships from symptoms provided for a case to a candidate disease. This enables users to quickly and interactively review relationship-specific supporting evidence, including source citations.
National Institute for Health and Care Excellence (NICE) Guidelines for Oncology
The NICE Guidelines for Oncology are now available for clinical reporting in QCI Interpret and QCI Interpret One. QIAGEN’s expert guideline curation provides the most up-to-date evidence-based guidance from NICE to support treatment selection for patients. NICE guideline recommendations are also used to support the computed AMP/ASCO/CAP variant classification to ensure relevant variants are indicated for review.
For information about the latest release, including the full release notes, please contact your QIAGEN Digital Insights account manager or customer support at ts-bioinformatics@qiagen.com.
Want to learn more about QCI Interpret?
- Learn more about QCI Interpret here.
- View a QCI Interpret sample report for inherited diseases here.
- View a QCI Interpret sample report for hereditary cancer here.
We also invite you to watch our on-demand webinar, “Overcoming Challenges of Copy Number Variant (CNV) Interpretation,” where our experts provide a virtual demonstration of QCI Interpret, showing how users can quickly evaluate CNVs and compute their pathogenicity using the new ACMG/ClinGen guidelines.
Ready for a free, personalized demonstration of QCI Intepret?
Visit our QCI Interpret webpage to request a complimentary demonstration.