Research shows optical genome mapping identifies genomic changes in nearly 98% of T-cell acute lymphoblastic leukemia cases compared to 55% with traditional analysis.
A peer-reviewed study in Modern Pathology indicates that optical genome mapping (OGM) detected genomic abnormalities in 97.8% of T-cell acute lymphoblastic leukemia (T-ALL) cases. This detection rate is nearly double the 55% rate achieved by conventional cytogenetic analysis.
The study, conducted by researchers at The University of Texas MD Anderson Cancer Center and Johns Hopkins University School of Medicine, represents a large-scale genomic analysis of T-ALL. T-ALL is an aggressive form of leukemia driven by various genetic changes that are often too subtle or complex for traditional detection methods, the release states.
The 91-subject study compared OGM head-to-head against conventional karyotyping and next-generation sequencing (NGS). While karyotyping identified abnormalities in 55% of cases, OGM identified them in 97.8% of cases and provided additional genomic insights in approximately 70% of the cases using a single workflow.
“This publication further strengthens the growing body of evidence supporting OGM as a powerful tool for resolving the genomic complexity of challenging childhood and adult blood cancers like T-ALL, 50% of which remain unsolved by legacy methods, such as, karyotyping,” says Alka Chaubey, PhD, FACMG, chief medical officer of Bionano, in a release.
According to the study, OGM and NGS can provide complementary data. OGM is designed to address challenges such as poor sample quality, subtle rearrangements, and a wide range of genomic targets by capturing alterations in a single pass.
“This study, as one of the first and largest of its kind in T-ALL, demonstrates the complementarity that OGM and NGS can provide and shows how OGM can be particularly well-suited to T-ALL’s unique challenges—including poor sample quality, subtle rearrangements, and a wide range of genomic targets—capturing recurrent and novel alterations in a single pass that would otherwise require multiple sequential tests,” says Chaubey in a release.
Chaubey notes that the ability to identify complex rearrangements gives researchers a more detailed view of the disease biology.
“The ability to uncover subtle and complex rearrangements in diseases like T-ALL can give researchers a far more complete picture of the biology—and reinforces why comprehensive structural variant analysis matters in blood cancer research,” says Chaubey in a release.
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