Bionano Symposium 2023 kicked off with speakers from around the world demonstrating how optimal genome mapping (OGM) with the Saphyr^® system is revolutionizing the analysis of genomic variation in hematological malignancies. This year’s attendees are hearing from 25+ global experts sharing how they drive discovery across multiple applications with OGM. Today’s presenters shared their experiences using Bionano’s tools to find more pathogenic chromosomal aberrations while simplifying their laboratory workflows in the process.

Register now to join us live this week and view recorded sessions after 1/26/23 on the Bionano Symposium 2023 virtual event platform.

Bionano’s products are for Research Use Only. Not for use in diagnostic procedures.

A few key themes from the Day 1 presentations

OGM’s high performance and utility make it a key assay for hematological malignancies assessment.

Multiple presenters demonstrated OGM’s assay power in terms of detecting chromosomal aberrations implicated in hematological malignancies—even multiple indications—in comparatively high resolution, including those known to be a challenge with karyotyping.

Detection and resolution

OGM was demonstrated to significantly increase the detection of clinically relevant structural variants compared to classical cytogenetic methods. Presenters also shared examples of OGM significantly increasing the resolution of chromosomal aberrations, better characterizing samples, and even correcting erroneous results from karyotyping.

Dr. Victoria Marcu, from Sheba Medical Center, Israel, presented data on OGM analytical evaluation, across 38 heme samples. Aside from great concordance with classical cytogenetic methods, OGM produced additional relevant findings in 52% of all analyzed samples.

In another presentation, Dr. Estelle Balducci, from Necker Children’s Hospital, shared data from 68 Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML) samples, analyzed with OGM, which revealed the presence of cytogenetic abnormalities not seen in routine cytogenetics in 33% of MDS samples nor in 54% of AML samples.

Utility with multiple hematological malignancies

In addition to high-resolution detection, today’s presenters also demonstrated how OGM works with multiple hematological malignancy indications, including leukemia, myeloma, and lymphoma. This includes those known to be challenging to karyotype.

Dr. Adrian M. Dubuc, from Brigham and Women’s Hospital and Harvard Medical School, presented data demonstrating OGM’s ability to generate results and characterize samples from disease indications, including Myeloma and T-Cell Lymphoma—both known to be challenging to karyotyping, due to low disease presence, poor cell growth in vitro, and other factors. Dr. Dubuc’s team found that in subjects with an elevated plasma cell count exceeding approximately 15%, OGM has the capacity to detect relevant structural rearrangements. In similar fashion, Dr. Ravi Kolhe, from Augusta University, presented data demonstrating OGM’s ability to assess aberrations in multiple myeloma samples with high resolution, even in cases where the cellularity was relatively low.

Standards and Recommendations for OGM Implementation

Dr. Adam Smith and Dr. Blanca Espinet presented on international collaborative efforts to establish standards and recommendations for the implementations and use of OGM across laboratories. Multiple institutions are collaborating and aligning on such recommendations.

OGM holds the power to generate groundbreaking discoveries in cancer biology.

Dr. Veronika Butin-Israeli, from Israel’s Shaarei Medical Center, presented an enlightening study linking genetic structural variants with nuclear deformity and carcinogenesis—further revealing the biology of cancer.

Day 1 presentation summaries

Presentation No. 1

From Masked Complexity to Chromosomal Mimicry: Using Optical Genome Mapping to Characterize Cancer Genomes

Adrian M. Dubuc, PhD, FACMG  |  Assistant Laboratory Geneticist and Assistant Professor in Pathology  |  Brigham and Women’s Hospital and Harvard Medical School

Dr. Dubuc presented research on the use of OGM in detecting cryptic genomic complexity. He discussed data from  a myeloid neoplasm sample in which initial karyotyping only identified an inversion on chromosome 3 and a deletion on chromosome 11. OGM revealed over 25 intra- and inter-chromosomal aberrations, exposing an underlying level of complexity not detected by other methods. He also introduced the concept of “chromosomal mimicry,” in which OGM helped better characterize samples and refine translocation breakpoints, correcting data that would indicate a false positive from FISH and karyotyping.

In collaboration with Dr. Sam Ng from the National Cancer Institute, Dr. Dubuc also discussed the use of OGM in T-cell lymphomas, which are known to have a high rate of false negatives with karyotyping due to a poor propensity for growth in vitro. The study found that OGM successfully characterized these samples.  Dr. Dubuc’s team also found that in samples from subjects with an elevated plasma cell count above approximately 15%, OGM has the capacity to detect  relevant structural rearrangements.

Presentation No. 2

Role of nuclear architecture in chromosomal instability of myeloid malignancies. New insights with OGM

Veronika Butin-Israeli, PhD  |  Head of Molecular Hematology Lab  |  Shaarei Zedek Medical Center

Dr. Butin discussed intriguing, unpublished research findings showing that results from OGM analysis link structural variants with DNA repair deficiency and nuclear deformations in hematological malignancy samples. The research identified a link between structural variations and carcinogenesis, specifically involving Lamin Associated Domains (LADs) and nuclear deformities.

Presentation No. 3

Validation of the OGM for cytogenomic testing in hemato-oncology – Sheba experience

Victoria Marcu, PhD  |  Cytogenetic Unit Head, Laboratory of Hematology  |  Chaim Sheba Medical Center

Dr. Marcu presented data on the use of OGM in the analysis of 38 hematological samples. In addition to showing strong concordance with classical cytogenetic methods, OGM produced additional relevant findings in 52% of all samples analyzed. In one example, a pediatric sample of B-cell acute lymphoblastic leukemia (B-ALL) for which a cell culture was not available for karyotyping, OGM alone revealed a complex genome that was not apparent with FISH.

Dr. Marcu also presented data from three hematological malignancy sample in which OGM led to new findings compared to other methods, resulting in better characterization of the samples and redefinition of the risk profile. In one case, OGM revealed an atypical BCR:ABL fusion that was not detected by multiplex PCR, which was specifically designed to detect this type of fusion.

Presentation No. 4

Optical Genome Mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients

Estelle Balducci, PharmaD, PhD  | Laboratory of Hematology  |  Necker Children’s Hospital, Paris, France

Dr. Balducci presented data on the use of OGM in 68 samples of MDS and AML. OGM revealed the presence of cytogenetic abnormalities not seen in routine cytogenetics in 33% of the MDS samples and 54% of the AML samples.

Dr. Balducci highlighted OGM’s ability to identify chromosomal abnormalities not recognizable by karyotyping, due to the limitations of the traditional method:

• Approximately 50% of MDS and AML samples will, “…have a normal karyotype. And this can be partially explained by the weak resolution of the technology.”
• “OGM provided successful analysis in…” in three samples where there had been a karyotype failure.
• “In our series of 68 MDS/AML, OGM revealed the presence of cytogenetic abnormalities not seen in routine cytogenetics…,” in 33% of MDS samples and 54% of AML samples.
• “OGM results in a more complete assessment of complex cytogenetic events, refining the underlying genomic structure reported by traditional cytogenetic methods.”

Presentation No. 5

Going beyond Karyotyping and FISH: Impact of Optical Genome Mapping with Additional Clinically Relevant Information in 75 Hematological Malignancy Cases

Ravindra Kolhe, MD, PhD, FCAP  |  Professor and Interim Chair of Pathology | Associate Dean for Translational Research | Associate Director for Genomics, Georgia Cancer Center | Leon Henri Charbonnier Endowed Chair of Pathology, Medical College of Georgia

Dr. Kolhe presented results from a comprehensive validation study, in which multiple hematological malignancy samples were analyzed across multiple types of structural variants. OGM not only provided outstanding performance in detecting all key types of structural variants, but it also demonstrated a low limit of detection of 5% allele fraction for translocations, deletions, duplications, and aneuploidies. In cancer samples, the ability to detect causative variants at low percentages in the sample is critical.

OGM was found to increase the detection of significant variants in hematological malignancy samples, compared to standard-of-care methods such as karyotyping and FISH. OGM was able to characterize multiple myeloma samples with high resolution, even  where the cellularity was relatively low.

Presentation No. 6 and Presentation No. 7

Additional groups, led by Dr. Adam Smith and Dr. Blanca Espinet, presented on collaborative efforts to establish standards and recommendations for the implementation and use of OGM across laboratories.

Learn more about unlocking true comprehensive detection of chromosomal aberrations in hematological malignancy samples, to maximize actionable pathogenic variant findings, with OGM.

Register now to join us live this week and view recorded sessions after 1/26/23 on the Bionano Symposium 2023 virtual event platform.