A Validated Genomic Reference Material with Known Content Applicable to Cancer Panel Assays Requiring Low Variant Allele Frequency Detection

AACR 2019 Poster

Prospective and GCP testing of tumors for important somatic variants in cancer is becoming more commonplace in clinics and especially in clinical trials. Currently, there is a lack of generally available, reliable, and perpetual genomic reference material that can be used across a wide range of genomic testing methods for assessing the potential accuracy of a given test. 

The SEQC2 consortium, led by the FDA, was chartered with examining best practices in DNA testing (especially detection of germline vs. somatic variation) across a wide spectrum of methods. Working Group #2 of the SEQC2 consortium was challenged with examining the reproducibility, sensitivity and accuracy of current (or in-development) commercially available tumor panels for both solid tumor testing and for liquid biopsies. We quickly identified that to perform such an examination, we needed to construct ground truth of additional DNA reference material, including a material that would have a sufficient magnitude of variants to conduct statistically powerful and meaningful performance assessments.

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