UCSF selected GenomOncology back in 2016 to develop a rapid analysis and reporting solution for the “UCSF500,” an advanced next-generation sequencing panel used by researchers and physicians at the UCSF Helen Diller Family Comprehensive Cancer Center for precision cancer diagnosis and treatment.
The UCSF500 assay identifies alterations in the coding regions of 479 cancer-related genes. By sequencing tumor and normal samples, cancer-relevant mutations can be classified as somatic or germline and reported separately. The assay is designed to detect single-nucleotide variants (SNVs), small (<10 bp) insertions or deletions (indels), and copy number changes (CNVs) with sensitivities over 98 percent.
The GO Pathology Workbench provides a configurable workflow for laboratories to manage relevant molecular testing results from NGS and other test modes, such as FISH, karyotyping, RT-PCR, IHC, and microarrays. Labs can use the Workbench to perform quality control analysis, evaluate and call variants, generate and sign-out clinical reports, manage confirmations, and initiate amendments and addenda.
After an 8-month implementation effort, which included custom development of features to support UCSF’s multiple variant caller and other key analysis functions, UCSF began analyzing and signing out clinical cases using the GO Pathology Workbench in October 2016.