Genetic Testing Lab to Advance Precision Medicine Therapies

April 26, 2021 - The University of Alabama at Birmingham School of Medicine and UAB Hospital laboratories have launched the Genomic Diagnostics Lab (GDL), an effort to increase genetic testing and advance precision medicine therapies.

“This facility is absolutely required to meet our clinicians’ immediate needs and expectations for molecular testing,” said Alexander “Craig” Mackinnon, Jr., MD, PhD, 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.”

The lab is a collaborative project with the UAB Department of Pathology’s Genomic Diagnostics and Bioinformatics (GDB) Division and UAB Hospital.

“This lab represents the efforts of a cross-disciplinary team, working to provide the latest in testing technologies for our patients,” said George Netto, MD, 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 to conduct rapid next-generation sequencing. Initially, GDB faculty will develop and validate two panels with close to 100 genetic markers. By late 2021, researchers will work to develop larger, 500-plus 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, MD, 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.

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 to treat a range of diseases and conditions, like 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.

The team will leverage 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 will recruit additional full-time employees to provide capacity needed to launch these new platforms and tests.

Physicians within the UAB health system currently order these genetic tests, but the lab will 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.

Other organizations are seeking to harness the power of genetic testing and genomics. NorthShore University HealthSystem recently launched a system-wide genomics program that will leverage predictive analytics to improve care for hereditary cancer, cardiovascular diseases, and rare diseases.

“Unlocking the power of genomics in patient care requires us to make information available in a way that clinicians and patients can easily act upon over time,” said Peter Hulick, MD, director of the Mark R. Neaman Center for Personalized Medicine at NorthShore.

“The partnership between NorthShore and Sema4 will allow us to get even better at delivering on the promise of genomic insights to prevent, detect, and manage diseases through one of the largest and most comprehensive personalized medicine programs in the country.”