Molecular diagnostics

The provision of precision medicine is underpinned by the availability of a high-quality, comprehensive and timely molecular diagnostics service.

Researcher with pipettes

The strategy for our BRC-related work is to conduct sequencing within approved research protocols for the purposes of:

  • Entry into clinical trials
  • Interpreting the data in trials
  • Better understanding of the clinical behaviour of the disease that will directly impinge on our treatment or clinical research

We have therefore expanded the Molecular Diagnostics department in the Centre for Molecular Pathology (CMP) to create a consolidated and integrated centre providing a reference clinical service for cancer patients to South West London and the South of England. The department benefits of full Clinical Pathology Accreditation for Medical laboratories (CPA UK Ltd), including a team of nine state-registered clinical scientists and 10 genetic technologists and biomedical scientists, and an array of clinically-validated technologies (NGS, RQ-PCR, fragment analysis, Sanger sequencing and FISH).

The opening of the CMP in 2012 has facilitated the creation of a comprehensive molecular pathology service for cancer by linking with the histopathology department, allowing the integrative and multiparametric analysis of clinical specimens with a fast turnaround time, incorporating the results into the Electronic Patient Records (EPR) and feeding actionable genetic data to the multidisciplinary teams (MDTs) and clinical trials.

This achievement goes beyond solid tumours, and we have created a fully accredited Haematological Malignancies Diagnostic Service (HMDS), in accordance with NICE guidance on improving patients' outcomes, providing the clinical diagnostics service to South West London and Surrey. Between the first BRC application in 2007 and the last one in 2012, the Molecular Diagnostics department has exponentially increased the number of clinical samples tested both for The Royal Marsden and external patients from over 1,000 samples in 2007 to almost 10,000 in 2012.

Molecular Diagnostics Unit tests for haematology patients:

  • B Cell Clonality
  • T Cell Clonality
  • IGHV Mutational Status
  • Chimerism
  • JAK2 V617F
  • BCR-ABL
  • FLT3-ITD
  • D835 & NPM1 mutations
  • Translocation AML/ALL

Molecular testing for solid tumours:

  • KRAS
  • BRAF
  • EGFR
  • KIT
  • PDGFRA
  • NRAS
  • PIK3CA
  • TP53
  • ALK

A spokesperson said: “In addition to the CMP giving us the infrastructure to provide our patients with molecular testing so we can personalise treatment, the NIHR has also funded many important research projects over the past year. We currently have molecular research being carried out in GI, paediatric and breast cancers. These projects are vital for the future treatment of cancer patients and would not be possible without the NIHR funding.”