Optical Genome Mapping at VGH — From Validation to Clinical Impact

Overview

At Vancouver General Hospital’s Cytogenomics Laboratory, I’ve helped drive the validation, implementation, and dissemination of Optical Genome Mapping (OGM) as a frontline diagnostic for hematologic malignancies, including acute leukemias. This work spans clinical validation studies, platform comparisons, and integration with long-read sequencing, alongside broad conference dissemination and a forthcoming peer-reviewed manuscript.

Clinical validation & implementation

• Led and contributed to the clinical validation of OGM as a front-line diagnostic test for hematological neoplasms.
• Advanced platform benchmarking (Stratys vs. Saphyr) to inform real-world deployment and workflow decisions.

Publications

• Clinical Validation of Optical Genome Mapping as a Front-Line Diagnostic Test for Hematological Neoplasms — manuscript pending publication.
• Additional genomics work includes methods and applications papers that underpin expertise in structural variation and genome instability.

Conferences & abstracts (selected)

• ACMG 2024 (Platform): Canadian lab’s clinical validation experience using OGM as a front-line diagnostic.
• Bionano Showcase @ ACMG 2024 (Platform): Inter-platform comparison of Stratys vs. Saphyr.
• ESHG 2024 (Poster, Berlin): Canadian experience applying OGM to hematologic neoplasms.
• CGC 2024 (Poster): Preliminary results of OGM clinical verification in hematologic cancers.
• ASH 2024 (Poster): Standard-of-care OGM — diagnostic & clinical impacts ~10 months post-implementation.
• AMP 2024 (Posters):
  • Turnaround time comparison: Karyotyping vs. OGM in acute leukemia diagnostics.
  • Novel TKI-sensitive PDGFRB fusion detected via OGM + Nanopore.
• CCMG 2024 (Abstract): Lessons learned after deploying OGM as a first-line diagnostic.
• CCMG 2023 (Talk & Poster): OGM for cryptic KMT2A rearrangements; early Canadian experience.
• ASH 2023 (Poster): Additional diagnostic yield using OGM in 69 informative AL cases (single-center).

Grants & collaboration

• Precision Health Catalyst (Co-I): Combining rapid targeted gene sequencing with high-resolution OGM to optimize therapy selection in AML.
• Ongoing collaborations across VGH Cytogenomics on method development, platform evaluation, and clinical reporting.

Impact & next steps

Our OGM program has accelerated detection of clinically relevant structural variants and informed treatment discussions for hematologic cancers. Current efforts focus on expanding OGM beyond acute leukemias (e.g., MDS, relapsed leukemias, CLL) and deepening integration with long-read sequencing for comprehensive genome profiling.

Last updated: Sep 2025