Bionano OGM detects hidden genomic risk in MDS and AML studies

Three peer-reviewed studies across the US, Finland, and Spain show optical genome mapping uncovers clinically actionable variants missed by standard karyotyping.

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A bright, modern laboratory features a white automated analyzer with an illuminated interior displaying tubes and fluidics, alongside racks of blue-capped test tubes on white lab benches.

Bionano Genomics has highlighted three independently conducted, peer-reviewed studies published in September 2026, each demonstrating that optical genome mapping (OGM) identifies prognostically significant structural genomic alterations that conventional cytogenetic methods routinely miss in myeloid malignancies.

The three studies, appearing in Modern Pathology, the International Journal of Cancer, and npj Precision Oncology, span myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and therapy-related myeloid neoplasms. Collectively they represent one of the most substantive bodies of independent clinical evidence yet assembled for OGM in a haematological oncology context.

What the studies found

At MD Anderson Cancer Center, a team led by Guilin Tang analysed 332 MDS samples and identified chromoanagenesis, a catastrophic single-event genomic restructuring, in 15.9% of cases. Patients positive for chromoanagenesis by OGM had a median overall survival of 9.9 months; median survival in the chromoanagenesis-negative group was not reached. The authors suggest OGM-based identification of this subset could guide referral to allogeneic transplantation or TP53-targeted trials earlier in the disease course.

The University of Oulu study examined 48 samples from patients with cytogenetically normal AML, a subgroup that appears unremarkable on standard karyotyping yet carries heterogeneous outcomes. OGM detected clinically relevant structural variants or copy-neutral loss-of-heterozygosity in 46% of these apparently normal cases. Recurrent findings included KMT2A partial tandem duplications, RUNX1 disruptions, NF1 deletions, and a novel putative FOXP1:EYA2 fusion not previously described in the literature. Patients with OGM-detected abnormalities had significantly worse overall survival than those without (p = 0.005).

The third study, from the Josep Carreras Leukaemia Research Institute and a Spanish hospital network, applied OGM to 48 therapy-related myeloid neoplasm samples and 65 cases of younger-onset MDS. OGM was interpretable in all samples, including eight cases where conventional banding analysis had failed entirely due to the absence of dividing cells. Incorporating OGM findings into established risk-scoring tools, IPSS-R and IPSS-M, shifted 16.7% of therapy-related neoplasm patients and up to 12.8% of younger MDS patients into higher-risk prognostic categories. Chromoanagenesis was the strongest independent predictor of inferior survival on multivariable analysis, with a hazard ratio of 9.26, exceeding even TP53 mutation status.

Market and competitive context

OGM occupies a growing niche between conventional karyotyping and next-generation sequencing. Standard karyotyping cannot resolve complex rearrangements below roughly 5–10 Mb in resolution; targeted sequencing panels, while sensitive to point mutations and small indels, are generally blind to large structural variants and copy-neutral events. OGM sits orthogonal to both: it resolves structural variants at the genome-wide level without requiring cell division, a practical advantage in samples where banding analysis fails.

Bionano's Saphyr platform is currently the commercially dominant OGM instrument, though the technology faces competitive interest from long-read sequencing approaches, including PacBio HiFi and Oxford Nanopore, which are increasingly being evaluated for structural variant detection. The distinction for OGM remains throughput and cost in a structural-variant-first workflow; long-read sequencing adds base-level resolution at greater cost and bioinformatic complexity.

Al Luderer, chairman and interim chief executive of Bionano, said that the three studies "all point to the same conclusion: a meaningful fraction of high-risk genomic complexity in myeloid malignancies is simply invisible to conventional karyotyping."

Bionano notes its products carry a research-use-only designation in the US and are not cleared for diagnostic use. Broader clinical adoption will therefore depend in part on whether payors and guideline bodies, including the European LeukemiaNet and the National Comprehensive Cancer Network, move to formalise OGM within cytogenetic workup recommendations for myeloid disease. The company is seeking Category I CPT reimbursement codes, and progress on that front will be a key commercial milestone to watch over the next 12 to 18 months.

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