by Christina Crowe
UAB Pathology and the Division of Genomic Diagnostics and Bioinformatics are pleased to announce a new next-generation sequencing (NGS) comprehensive genomic profiling (CGP) Solid500 test which identifies and delivers genomic signatures for tumor mutation. The test also supports guideline-based therapy decisions and identifies genetic markers to help organize and differentiate clinical trial enrollment for various tumor treatments.
This FDA-cleared test for solid tumor has been performed in the Clinical Molecular Diagnostics Laboratory, effective March 2, 2023. It targets 505 genes important in driving cancer—genes that would have mutations that would be significant in the growth and spread of cancer. It typically has a turnaround time of seven days from receipt of the sample results, and eliminates the need for tests to be sent out to reference labs.
“By having a big, comprehensive panel like this we span a spectrum of diseases that are all a form of solid tumors, so we can run one assay for many different diseases,” says Alexander “Craig” Mackinnon, M.D., Ph.D., GDB Division Director. This test represents about a tenfold increase in the number of genes we have the ability to test for, he says.
“By sequencing so many genes, we can pick up two signatures–tumor and mutation burden–and microsatellite instability (MSI and TMB). Previously we had to do multiple assays to get this information.”
The test is approved by the Centers for Medicare and Medicaid Services for Medicaid patients in Alabama to be reimbursed for it, in addition to Blue Cross Blue Shield patients who are preapproved for the testing.
“It has always been our goal to repatriate as much as possible,” Mackinnon says. “Now we are offering testing that is comparative to send-out testing, and in this way we hope we can keep the specimen within the UAB system, which reduces turnaround time to providing patients with results.”
In addition, the GDB team recently developed and launched a new test to look at the methylation status of MGMT, a biomarker of gliomas (tumors of the central nervous system). Darshan Chandraskehar, Ph.D., Assistant Professor, GDB, developed a pipeline that shows a “speedometer” representing higher methylation. This test will be ordered by neuropathologists for patients with brain tumors, complimenting a suite of existing assays to provide a large spectrum of testing for central nervous system tumors, Mackinnon says.
Gene Siegal, M.D., Ph.D., Robert M. Mowry Endowed Professor and Interim Chair of the Department, notes the Genomic Diagnostics and Bioinformatics Division has been validating this test for many months to maximize quality and minimize the need to send out these tests to outside vendors, saving both time and money to better serve the patients of UAB.
In 2022, the same team released a new cancer assay, providing rapid results and reducing the need for repeat biopsies. The Department Pathology expanded its Genomic Diagnostics Lab's capacity for testing in 2021. This latest work is a reflection of that continued growth.