Significant efforts are being made to standardize the interpretation of NGS somatic variants between clinical laboratories. A new study suggests clinical decision support software will be key.
QCI Interpret is a clinical decision support software that enables pathologists to identify biologically and clinically relevant oncology-related variants. The application draws on a large knowledgebase of curated information, coupled with an expert interpretation service to classify variant pathogenicity and actionability based on the ACMG and AMP guidelines.
To validate the accuracy and consistency of QCI Interpret’s somatic variant classification, GenQA, an external quality assessment organization, designed and executed a study published in the Journal of Molecular Pathology that compared the use of QCI Interpret to internal variant interpretation methods of 8 laboratories who regularly perform next-generation sequencing of oncology samples.
GenQA collected and analyzed the data from the 8 laboratories. The variants reported and classified using QCI Interpret were compared to the variants reported and classified using independent methods. Conflicts were resolved using a panel of experts.
QCI Interpret's automated somatic NGS variant assessment demonstrated 91% concordance with human expert classifications.
In contrast, 41/149 variants (28%) reflected discrepancy among human reviewers. The expert panel was unable to reach resolution on 8 variants.
The rate of disagreement among laboratories and the expert panel was 19% greater than the disagreement between QCI Interpret and expert assessment.
- Fairley et al. (2022), Journal of Molecular Pathology
Trusted to interpret more than 3 million patient molecular profiles for hereditary and oncological diseases, QCI Interpret is clinical decision support software proven to reduce NGS test turnaround time and enhance interpretation accuracy and consistency.
Learn more about this industry-leading software and how QCI Interpret can help your lab streamline and standardize your NGS variant interpretation.
Li et al (2017). Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. The Journal of molecular diagnostics : JMD, 19(1), 4–23. https://doi.org/10.1016/j.jmoldx.2016.10.002