Overview
As project lead at Vancouver General Hospital’s Cytogenomics Laboratory, I directed the clinical validation, implementation, and launch of Optical Genome Mapping (OGM) as a first-line diagnostic test for hematological malignancies. This initiative, completed in November 2023, represents the first clinical deployment of OGM in Canada for acute leukemia testing and has since become an integral part of routine diagnostics at VGH.
Validation and clinical impact
- Led the validation and clinical roll-out of OGM as a front-line diagnostic tool for acute leukemias.
- Since implementation, the lab has profiled hundreds of patients with a 97% quality control success rate and clinically significant findings in 49% of cases—directly influencing diagnostic and treatment decisions.
- Presented findings demonstrating that OGM consistently detects clinically actionable structural variants missed by conventional cytogenetic methods.
Dissemination and recognition
The project’s validation and clinical impact have been widely disseminated through national and international platforms, establishing VGH as a Canadian leader in genomic innovation. It was also featured in the 2023 UBC Department of Pathology & Laboratory Medicine Annual Report , highlighting its role in advancing genomic diagnostics in British Columbia.
- 2023 Canadian College of Medical Geneticists (CCMG) Annual Scientific Conference – Oral and poster presentations
- 2023 Cancer Genomics Consortium (CGC) – Poster presentation
- 2023 American Society of Hematology (ASH) – Poster presentation
- 2024 American College of Medical Genetics (ACMG) – Platform presentation
- Abstracts accepted for 2024 CCMG and 2024 CGC, under review for 2024 European Society of Human Genetics (ESHG)
Publications and ongoing work
- Preparing a peer-reviewed manuscript detailing the clinical validation and diagnostic impact of OGM in hematologic neoplasms.
- Expanding testing to include myelodysplastic syndromes, relapsed acute leukemias, and chronic lymphocytic leukemia.
- Integrating OGM with Oxford Nanopore long-read sequencing for comprehensive structural variant characterization.
Impact and significance
This project has established a new clinical standard for detecting complex structural variants in hematologic malignancies. OGM now serves as a routine first-line diagnostic at VGH, streamlining turnaround times and providing higher-resolution insights than traditional cytogenetic testing. Ongoing efforts continue to expand the technology’s scope and demonstrate its potential as a cornerstone of precision oncology in Canada.