An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment

Comprehensive next-generation sequencing (NGS) panels for cancer diagnostics create a bottleneck interpretation. QIAGEN Clinical Insights Interpret One (QCI) is clinical decision support software that supports molecular pathologists in the classification of oncology-related variants. This study compares variant assessments by QCI to utilizing current laboratory methods. Eight laboratories were recruited external quality assessment organization GenQA. The submitted VCFs from studies performed on both hematological disorders and solid tumors analysis an independent laboratory. Results compared conflicts resolved using panel experts. In total, 14/149 variants (9%) reported as Tier 1 or 2 either submitting found be discordant after expert review. contrast, 41/149 (28%) reflected discrepancy among human reviewers. was unable reach resolution eight demonstrates high concordance actionable mutations with methods assessment. rate disagreement greater than between Disagreement experts highlights subjectivity classifying interpretation streamlining standardization NGS