How Optical Genome Mapping is Transforming Leukemia Diagnosis
Central and South Genomic Laboratory Hub, UK
At Birmingham's Central and South Genomic Laboratory Hub (GLH), scientists are harnessing Optical Genome Mapping (OGM) – a breakthrough approach revealing hidden genetic landscapes in leukemia with unprecedented clarity 2 9 .
"Cancer testing involves analyzing genetic changes people are born with alongside those acquired during their lifetime. It's essential we detect them accurately – sometimes just a single change among 3.2 billion normal molecules"
Optical Genome Mapping images entire DNA molecules rather than sequencing letter-by-letter:
Visualizing the Genome in Unprecedented Detail
OGM provides a comprehensive view of structural variants that traditional methods miss
The NHS established seven Genomic Laboratory Hubs in 2018, with the Central and South GLH – serving 12 million people – emerging as the largest 3 5 .
Specialists in the team
Leukemia cases analyzed
People served
"We're focused on bringing genomics into routine clinical care, ensuring equity of access for all eligible patients"
The Central and South GLH team's rigorous evaluation comparing OGM against traditional methods revealed transformative results 2 :
| Parameter | OGM | Traditional Methods |
|---|---|---|
| Hands-on Time | 2.5 hours | 15+ hours |
| Total Turnaround | 3-5 days | 14-21 days |
| Resolution | 500 bp | 5-10 Mb (karyotyping) |
| Balanced SV Detection | Yes | Limited (karyotyping only) |
| Genome Coverage | Comprehensive | Targeted/Fragmented |
| Case Type | Standard Results | OGM Findings | Impact |
|---|---|---|---|
| Normal Karyotype | "No abnormalities" | Cryptic ETV6::RUNX1 fusion | Changed risk stratification |
| AML with t(8;21) | RUNX1::RUNX1T1 fusion | Co-existing BCAT1::BAALC fusion | Trial eligibility |
| CLL with del(13q) | Isolated 13q deletion | Hidden chromothripsis | Poor prognosis indicator |
11% of leukemia diagnoses were changed at a Canadian hospital implementing OGM 9
OGM identified cryptic NUP98 rearrangements – biomarkers for poor prognosis
Detected IKZF1 deletions in 50% of B-cell leukemia cases – known predictor of relapse 9
"Within pathology, we are only just scratching the surface of what improvements, insights and efficiencies automated analysis and machine learning might bring – watch this space!"
The era of genomic opacity is ending. With each DNA molecule mapped, each cryptic rearrangement revealed, and each treatment plan optimized, technologies like OGM are transforming leukemia from a life-threatening emergency to a manageable condition – one genome at a time.