New UAB lab expands genomic diagnostic testing

The lab’s clinical expertise combined with the powerful diagnostic capability of its instruments will allow UAB to offer patients increasingly targeted, personalized treatment.
Written by: Christina Crowe
Media contact: Bob Shepard


GDL.3Craig Mackinnon, Jr., M.D., Ph.D., professor and director, Division of Genomic Diagnostics and BioinformaticsThe University of Alabama at Birmingham School of Medicine and UAB Hospital laboratories have established the Genomic Diagnostics Lab, a first step toward an expanded offering of genomic diagnostic testing at UAB. This collaborative project with the UAB Department of Pathology’s Genomic Diagnostics and Bioinformatics Division and UAB Hospital opened in January 2021.

“This facility is absolutely required to meet our clinicians’ immediate needs and expectations for molecular testing,” said Alexander “Craig” Mackinnon, Jr., M.D., Ph.D., professor and director, Division of Genomic Diagnostics and Bioinformatics. “This newly renovated lab is a bridge providing urgently needed space in the immediate near term. The next phase brings in additional partners, including Clinical Genetics and Pediatric Microbiology, as the labs integrate. The GDL will greatly increase the scale, scope, and efficiency of genetic testing at UAB.”

“This lab represents the efforts of a cross-disciplinary team, working to provide the latest in testing technologies for our patients,” said George Netto, M.D., Robert and Ruth Anderson Endowed Chair, UAB Department of Pathology. “The expertise of the lab’s clinicians and staff, combined with the powerful diagnostic capability of its instruments, will allow UAB to offer patients increasingly targeted, personalized treatment.”

The GDL employs a recently acquired Genexus Integrated Sequencer, made by Thermo Fisher Scientific, to conduct rapid next-generation sequencing. Initially, GDB faculty are developing and validating two panels with close to 100 genetic markers. By late 2021, they will work to develop larger, 500+ gene panels.  

“The larger the gene panel, the greater the likelihood of hitting the specific biomarkers that clinicians are looking for, such as tumor mutation burden,” said Shuko Harada, M.D., head of the Molecular Diagnostics section of the GDB Division, whose team will lead the effort to develop and validate assays using the larger, more extensive panels.  

The instrument’s test results help physicians determine optimal therapies for patients by identifying genetic variants in a patient’s tumor, often linked to specific therapies.

“Clinicians need the genetic results as soon as possible in order to make an accurate diagnoses and fully informed treatment decisions,” Mackinnon said.

GDL.4Shuko Harada, M.D., head of the Molecular Diagnostics section of the Division of Division of Genomic Diagnostics and Bioinformatics.The GDL is also developing a large pharmacogenomics assay that will run on the recently installed Agena MassArray system. The new PGDX assay targets 97 variants in 26 genes involved in the metabolism of drugs used for treating a range of diseases and conditions such as psychiatric disorders, cardiovascular issues, and chronic pain management. 

“These drugs are metabolized by specific genes, and a physician may need to adjust the dose if a patient metabolizes a particular drug more slowly, for example,” Mackinnon said.

C. Ryan Miller, M.D., Ph.D., Vishnu Reddy Translational Research Endowed Professor and director of the Division of Neuropathology, and neuropathologist Rati Chkheidze, M.D., assistant professor, will employ the MassArray system to test patients with tumors involving the central nervous system. The goal of this testing is to expand in-house capabilities and reduce turnaround times. 

To reach these goals, the GDL is recruiting additional full time employees to provide capacity needed to launch these new platforms and tests. 

Currently, physicians within the UAB health system order these genetic tests, but the lab plans to expand and offer these tests regionally. The Department of Pathology and UAB Hospital Labs have engaged consultants to develop a long-term operational and financial plan for the GDL.

“The newly renovated space is the first step toward establishing a joint partnership of key UAB stakeholders to establish a freestanding genomic diagnostics lab with the capacity to service our state and our region, improving patient care for the greater Birmingham area and beyond by implementing the latest technologies and clinical expertise to make precision medicine more accessible,” Mackinnon said.