Bionano's OGM Identifies Crucial Variant in Acute Promyelocytic Leukemia

Bionano Genomics, Inc. (BNGO) has announced a significant breakthrough in the diagnosis of acute promyelocytic leukemia (APL), a subtype of acute myelogenous leukemia (AML). A case study published by researchers at Johns Hopkins University showed that optical genome mapping (OGM) detected a structural variant that was missed by traditional cytogenetic techniques, such as karyotyping and fluorescence in situ hybridization (FISH). This variant, a PML::RARA fusion, is known to occur in APL and is crucial for guiding therapy selection and patient management.

APL is an aggressive form of AML that responds well to targeted therapies like all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). However, conventional cytogenetics fails to identify the variant(s) that indicate these treatments in about 13% of APL cases. This shortcoming can hinder effective treatment and patient management. The identification of the PML::RARA fusion variant by OGM is consistent with previously reported findings, which show that OGM can detect variants found by standard cytogenetics and can also find additional variants that are missed by these techniques.

Bionano's CEO, Erik Holmlin, commented on the case study, stating that the standard of care techniques used for devastating diseases like blood cancer are insufficient to reliably guide therapy selection and patient management due to their tendency to miss actionable variants for a significant fraction of cases. He also noted that OGM, with its higher resolution, streamlined workflow, and ability to find more variants, could be a suitable alternative to these techniques, potentially leading to better therapy selection and patient management decisions.



The use of OGM in APL diagnosis aligns with current clinical guidelines and standards of care. The ability of OGM to detect the PML::RARA fusion variant that is often missed by conventional cytogenetic techniques could lead to earlier and more accurate diagnoses, potentially improving patient outcomes and reducing healthcare costs. The simplified workflow of OGM, which generates results in 4 days without the need for cell culture, could also reduce laboratory processing times and costs.

Adopting OGM as a diagnostic tool for APL could have significant economic implications. First, OGM's ability to detect the PML::RARA fusion in 13% of cases where conventional methods fail could lead to earlier and more accurate diagnoses, potentially improving patient outcomes and reducing healthcare costs. Second, the simplified workflow of OGM could reduce laboratory processing times and costs. However, the micro-cap status of BNGO ($29.8M) reflects significant execution risks and commercialization challenges. To justify a higher valuation, the company needs to demonstrate meaningful revenue growth and market adoption. Additionally, gaining reimbursement for OGM-based diagnostics will be crucial for widespread adoption. The company has four large clinical studies underway, with roughly 5,000 patients, to drive guideline inclusions, third-party reimbursement, and broad clinical adoption.

In conclusion, Bionano's OGM has shown great promise in the diagnosis of APL by identifying the crucial PML::RARA fusion variant that is often missed by conventional cytogenetic techniques. This breakthrough could lead to improved patient outcomes, reduced healthcare costs, and a potential shift in the standard of care for APL diagnosis and treatment. As BNGO continues to develop and validate its technology, investors should monitor the company's progress and the potential market impact of OGM in the cytogenetics field.