Clinical Diagnostic Test Detects Additional Genetic Variants in Acute Leukemia Patients

Genetic testing plays a critical role in diagnosing acute leukemia, determining disease subtype, guiding treatment decisions, and predicting patient outcomes. However, traditional diagnostic workflows rely on multiple testing methods that sometimes fail to detect certain genetic abnormalities. Researchers have now demonstrated that optical genome mapping (OGM) may significantly enhance the detection of clinically relevant genetic changes in patients with acute leukemia.

OGM is an advanced genomic analysis technology that provides a comprehensive, genome-wide view of structural variations and copy number changes. Unlike traditional approaches that rely on multiple separate tests, OGM allows researchers to detect a wide range of genetic alterations in a single analysis. In a new study, investigators at Vancouver General Hospital (Vancouver, Canada) and the University of British Columbia (Vancouver, Canada) evaluated the use of optical genome mapping in 200 adult patients with acute leukemia treated at a Canadian tertiary care center.

The technology was implemented alongside existing diagnostic methods, including karyotyping, fluorescence in situ hybridization (FISH), and panel-based next-generation sequencing (NGS). OGM identified more than 640 clinically reportable genetic variants, compared with 444 variants detected using standard diagnostic testing. Importantly, the technology uncovered additional clinically significant genetic abnormalities in nearly 20 percent of patients that were missed by conventional testing approaches.

These additional findings helped refine diagnoses and improve risk stratification in a substantial proportion of cases. By revealing previously undetected genetic alterations, OGM may enable clinicians to better tailor treatment strategies and more accurately predict disease outcomes. The technology’s ability to detect structural variations across the entire genome helps overcome limitations associated with traditional diagnostic methods, which often have restricted resolution or focus on specific genomic regions.

Although OGM currently has a longer turnaround time than some standard tests, researchers believe it provides valuable complementary information that can enhance the diagnostic workflow for acute leukemia. The study, published in The Journal of Molecular Diagnostics, suggests that integrating OGM into routine clinical testing could improve the detection of critical genetic abnormalities and support more personalized treatment decisions for patients with leukemia.

“This advanced clinical diagnostic technology offers the opportunity to meaningfully impact the individuals we serve, shedding light on genetic abnormalities that we previously could not visualize due to its incredibly refined resolution for detection of copy number and structural abnormalities,” said lead investigator Tara Spence, PhD, FCCMG, FACMG. “It is poised to guide treatment decisions and refine our understanding of expected outcomes. By sharing our experience and highlighting the additional diagnostic yield that OGM can provide, we hope to reduce barriers to implementation and support broader adoption of this powerful tool in clinical practice.”

Related Links:
Vancouver General Hospital
University of British Columbia