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Mitigating Variability in Somatic Variant Interpretation: An Expert Panel

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"Mitigating Variability in Somatic Variant Interpretation: An Expert Panel"

Next-generation sequencing (NGS) oncology panels are becoming integral in hospital and academic settings to guide patient treatment and enrollment in clinical trials. But as NGS is increasingly used in precision oncology and an unprecedented amount of genomic information is uncovered, there is an industry-wide issue of standardization: a high degree of variability in variant interpretation currently exists across laboratories.

Inconsistencies in variant interpretation among laboratories can create confusion for clinicians and their patients, leaving them unable to confidently use genetic information to manage healthcare decisions. In this live panel discussion, experts in NGS testing and clinical informatics explore the issues surrounding the standardization of variant interpretation and consider how interpretation guidelines and clinical decision support (CDS) software can help to mitigate variability between laboratories.

Topics of discussion include:

Findings of a peer-reviewed study comparing the accuracy and consistency of variant assessments from commercial CDS software to the internal variant interpretation methods of eight laboratories.

Causes of inter-laboratory inconsistency in variant interpretation and how to mitigate variability.

The benefits of having an up-to-date, high-quality knowledge base to produce consistent, evidence-based clinical classifications.

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