QIAGEN Expands AI in NGS Software for Clinical Exome Completeness

29 September 2023 | Friday | News

AI-driven literature extraction for thousands of rare disease genes fortifies and extends QIAGEN’s proprietary, human-certified content, providing complete bibliographic coverage of the clinical exome // Enhanced AI-trained phenotype driven ranking of pathogenic variants improves accuracy and efficiency of prioritizing candidate variants // New features reduce time needed for prioritization, assessment and interpretation of clinically relevant variants and facilitate access to trusted evidence for diagnostic labs
Image Source : Public Domain

Image Source : Public Domain

QIAGEN announced  the expansion of its clinical decision support software, QIAGEN Clinical Insight Interpret (QCI Interpret), to include artificial intelligence (AI)-enhanced coverage of thousands of rare disease genes, advancing its AI-capabilities that have been established for over two decades. The expansion complements the human-certified content curation of QCI Interpret and enables complete bibliographical coverage of the clinical exome.

New features include:

  • Additional AI-derived literature references for thousands of additional genes in the clinical genome to supplement QIAGEN-curated content. The unique combination of human-certified and AI-derived content not only saves considerable time in the prioritization, assessment, and interpretation of clinically relevant variants but ensures diagnostic labs have access to complete and trusted evidence as they onboard and deploy larger gene panels.
  • Enhancement of the AI-trained phenotype-driven ranking. This advanced feature significantly increases the diagnostic power of exome sequencing by improving the accuracy and efficiency of identifying disease-gene associations. In addition, QCI Interpret users can now filter publications to focus exclusively on phenotype-related references. With one click, they can pull only publications relevant to the patient's genome and phenotype, significantly reducing time spent reviewing the literature for each variant classification.
  • Advancement for somatic NGS testing with QCI Interpret for Oncology, providing new report revisioning capabilities, streamlined filtering of structural variants, and quick identification of disease-relevant clinical literature 

“As costs for whole-genome and whole-exome sequencing decrease, clinical labs face bottlenecks in NGS interpretation,” said Jonathan Sheldon, Senior Vice President of QIAGEN Digital Insights. “We help researchers to overcome this challenge by broadening the content of QCI Interpret, now covering the whole exome thanks to additional AI capabilities. By bringing human-curated and AI-derived content together, we deliver complete, trusted and accurate evidence to our customers and offer them the highest quality and most comprehensive clinical NGS reporting solution on the market.”

For over two decades, QCI Interpret has combined the accuracy and consistency of QIAGEN’s proprietary expert (MD/PhD) curation with the superior efficiency of machine curation (AI-powered) to enable high-confidence variant interpretation and reporting. With over 3.5 million NGS patient test cases analyzed and interpreted worldwide, QCI Interpret is one of the most widely used and universally respected platforms for efficiently accessing clinical evidence to support confident decision-making in genetic testing.

QCI Interpret continuously expands its global footprint and is adopted by an increasing number of programs and institutions. For example earlier this year, the Danish National Genome Center selected QCI Interpret for variant interpretation in oncology genome sequencing. The software will be used at testing sites throughout Denmark and support the nationwide initiative to offer sequencing-based solutions for cancer patients.

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