Next-generation sequencing reporting practices among the Genomics Organization for Academic Laboratories (GOAL) institutions: Current state and opportunities for harmonization.
TL;DR
The current state of NGS reporting practices was profiled across Genomics Organization for Academic Laboratories (GOAL) members to promote harmonization and considerations for best practices are presented.
Abstract
Tumor next-generation sequencing (NGS) is widely used to refine diagnosis and identify therapy targets. However, reporting criteria, schemas, and formats vary greatly which can affect uniformity of clinical cancer care. With the aim of promoting harmonization, the current state of NGS reporting practices was profiled across Genomics Organization for Academic Laboratories (GOAL) members. The assessment included a group landscape analysis to refine topics followed by a survey of member laboratories and post-survey discussions. A total of 28 surveys covering hematology and/or solid tumor panels from 21 academic laboratories were analyzed. A majority of responses indicated use of one or more variant tiering systems and reporting of all presumed somatic variants of uncertain significance. Most indicated significant manual effort by directors in generating final reports related to variant annotation using multiple external and internal laboratory databases, evaluation for potential germline variants, and correlation with prior NGS studies and clinical context. Report differences by indication related to more frequent inclusion of longitudinal comparisons for hematologic neoplasms and potential therapies for solid tumor reports. Based on areas of strong consensus among survey participants, considerations for best practices are presented along with opportunities for future harmonization, which may require improvements in classification schemas or better software tools.