The Haematology Malignancy Diagnostic Service has launched a high-throughput genetic screening test for chronic blood cancers that is faster and more accurate, reducing the need for painful bone marrow biopsies.
Colleagues in HMDS recently launched a novel genetic screening test that’s revolutionised Myeloproliferative Neoplasm (MPN) testing across the region. MPNs are chronic blood cancers caused by acquired mutations in oncogenes (JAK2, CALR, and MPL), that deregulate blood cell production. Early, accurate detection of mutations in the peripheral blood can confirm a molecular diagnosis, sparing the need for an uncomfortable bone marrow biopsy for some patients.
Previously the diagnostic strategy varied between sites, affecting sensitivity and turnaround time. The new high-throughput sequencing assay offers a standardised, region-wide solution, detecting almost all MPN driver mutations above 0.5% allele frequency in a single protocol – a major improvement on earlier models.
The assay uses DNA barcodes to process up to 200 patient samples in parallel, supported by powerful bioinformatics pipelines that filter out poor-quality genomic data, improving accuracy. Since going live, over 12,000 samples have been tested, with clinically relevant mutations found in approximately one in five cases, including rare variants and a novel cohort with more than one MPN driver. The team recently initiated an audit of requesting patterns that aims to improve the pick-up rate by developing stringent clinical indication for testing. Sequence data from the cohort will also feed into the national RaMPVar project to help refine the biological significance of novel MPN-associated Variants of Unknown Significance.
In parallel, to support clinical reporting, the team augmented HaemOncDB (HODB) – the YNE-GLH cloud-based platform that allows clinical scientists to access NGS results and generate reports, also developed in HMDS. Over 95% of standard MPN cases are auto-reported via HODB, streamlining workflows and cutting turnaround times.
Looking ahead, the HMDS Molecular team plans to expand testing to incorporate lymphoproliferative diseases (LPD) like Chronic Lymphocytic Leukaemia and Waldenström’s Macroglobulinaemia. The second iteration of the assay – now in the validation phase – offers broader coverage of clinically relevant genomic regions, improved sensitivity relative to current techniques, a shorter turnaround, and automated reporting for WHO-diagnostic hotspots. There’s also an inbuilt SNP ID-check to further enhance quality assurance. The team plan to launch the upgraded MPN-LPD assay later this year.