44. An international landscape of cancer NGS reporting practices

Abstract

Multiple guidelines and standards have been issued globally to aid in Next Generation Sequencing (NGS) variant interpretation. The AMP/ASCO/CAP, ACMG/AMP, and ESMO published guidelines are incorporated into cancer NGS reports in different ways around the globe. The Variant Interpretation for Cancer Consortium Virtual Molecular Tumor Board (VICC-VMTB), in collaboration with the Cancer Genomics Consortium (CGC) and the ClinGen Somatic Clinical Domain Working Group (CDWG), distributed a comprehensive survey to membership of each group regarding reporting practices for cancer NGS testing worldwide. Seventy-nine survey responses representing 17 countries in 6 continents were collected. Respondents are involved in reporting cancer NGS tests in clinical laboratories (n=58), academic/research laboratories (n=30), and/or commercial laboratories (n=5). The use of reporting elements both consistently and differentially was evaluated. Consistently reported elements used globally include but are not limited to inclusion of the tissue source, diagnosis, protein-level amino acid sequence-based (p.) variant annotation, and the inclusion of relevant treatment information. Differentially reported elements include but are not limited to the usage of genomic DNA reference sequence-based (g.) nomenclature, the combination of different variant types into a single report, and the practices around reporting mutational signatures. This global survey helps inform communities providing guidance on reporting structure and the necessary components of cancer NGS report. This snapshot of current reporting practices helps further the discussions about differentially utilized report elements and clarify the context of their use on a global scale.