On May 26, 2026 Bionano Genomics, Inc. (Nasdaq: BNGO) reported publication of a peer-reviewed study in Modern Pathology showing that optical genome mapping (OGM) detected genomic abnormalities in 97.8% of T-cell acute lymphoblastic leukemia (T-ALL) cases — nearly double the 55% detection rate achieved by conventional cytogenetic analysis. Conducted by researchers at The University of Texas MD Anderson Cancer Center and Johns Hopkins University School of Medicine and representing one of the most comprehensive genomic analyses of T-ALL to date, the study underscores OGM’s potential to transform how this aggressive blood cancer is studied and understood.
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T-ALL is an aggressive form of pediatric and adult leukemia driven by a wide variety of complex genetic changes, many of which are too subtle or structurally complex to be detected by traditional methods. The disease is notoriously difficult to characterize fully, limiting the ability of researchers to study its biology, classify subtypes, and develop targeted therapies.
The 91-subject study compared OGM head-to-head against conventional karyotyping and next-generation sequencing (NGS) — the standard tools for evaluating T-ALL. Where karyotyping identified abnormalities in just 55% of cases, OGM found them in 97.8% of cases, and provided additional genomic insights beyond standard methods in approximately 70% of the cases — all from OGM’s single workflow.
Key Highlights:
91 cases: of T-ALL cases analyzed across three platforms — OGM, conventional karyotyping, and NGS — making this study the largest OGM study of T-ALL conducted to date.
High success rate for finding abnormalities: OGM identified chromosomal abnormalities in 97.8% of cases, compared to 55% by conventional karyotyping — a dramatic improvement in detection for a disease where missed findings can leave the biology incompletely understood.
Broader picture in 70% of cases: OGM delivered clinically relevant genomic information beyond karyotyping in approximately 70% of cases, uncovering abnormalities that standard methods missed — all without requiring additional testing.
24 known + 21 novel gene fusions identified: OGM detected gene rearrangements in 80% of cases, including 24 known recurrent fusions and 21 newly identified fusions, pointing to potential new targets for T-ALL research.
Comprehensive sequence variant and copy number profiling: OGM identified copy number changes in 93% of cases. NGS detected sequence variants in 92% of cases. The gene most frequently found to harbor variants was NOTCH1 (57% of cases).
Disease subtypes decoded: OGM uncovered distinct genomic patterns across T-ALL subtypes, supporting more precise biological classification of this heterogeneous disease.
OGM can streamline workflows for T-ALL. T-ALL presents particular challenges for standard genomic analysis: samples often yield poor-quality material for karyotyping, and many of the most biologically important genetic changes are subtle, small-scale, or driven by rearrangements in non-coding regions of the genome. Conventional approaches typically require multiple sequential analyses to piece together a complete picture — a process that is time-consuming, costly, and incomplete. OGM can address these limitations with a genome-wide approach that captures the full landscape of genetic variation in 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. 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," said Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. Dr. Chaubey continued, "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."
(Press release, BioNano International Singapore Pte, MAY 26, 2026, View Source [SID1234666083])