Clinical Genomics at The Royal Marsden
What is clinical genomics?
The Royal Marsden, together with the Institute of Cancer Research, is one of the largest comprehensive cancer centres in Europe. The Clinical Genomics service is a highly experienced, multi-disciplinary team of dedicated clinical and research scientists, offering a range of genomic testing specific to oncology.
Identifies genetic changes in individual cancers
Why choose us?
Using a variety of specialised techniques; more comprehensive diagnostics and monitoring is achieved
Personalised and improved treatments and outcomes for patients.
We strive to provide a high-quality clinical genomics service, translating our scientific knowledge into diagnostic excellence, improving cancer treatment and care.
Our innovative cancer testing includes Next Generation Sequencing (NGS) gene panels for solid tumours and haematological malignancies, and collaboration with research teams to design bespoke panels and whole exome sequencing.
The Royal Marsden is the designated cancer testing laboratory for the North Thames Genomics Laboratory Hub (GLH). Our scientific expertise allows us to deliver cutting-edge technology and provide the interpretation of complex genomic data, and our academic excellence in genomics and translational medicine can advance clinical practice and promote clinical innovation.
Bespoke service
Personalised care to improve treatments and outcomes for cancer patients
Bespoke NGS panels, as directed by oncologists, are specific to the patient based on their clinical symptoms and differential diagnosis.
Our knowledgeable staff are readily available to discuss the genomic results in a clear and understandable way.
Innovative testing
Working closely with oncology experts, we can use innovative genomic testing to bring personalised treatments to patients sooner
As early adopters of new genomic testing, we are leading the way in applying ground-breaking technologies to cancer treatment and care.
Our pan cancer approach allows us to detect rare genetic changes in the tumour, which supports diagnosis, prognosis, disease monitoring and predictive response to therapies.
Our large trial portfolio and extensive repertoire of genomic cancer tests results in rapid and accurate profiling of solid tumours and haematological malignancies.
Flexible offering
Comprehensive tumour profiling gives patients access to a wider range of treatment options
The range of specialised genomic cancer tests provide a comprehensive overview of the tumour profile to identify diagnostic markers, treatment targets and potential resistant mutations.
Sequencing results can be revisited and reinterpreted without the need for additional samples to be taken, and can be easily adapted to the clinical setting.
World leading experts
Our Next Generation Sequencing (NGS) panels are designed by oncologists for oncologists
Our world leading experts are at the forefront of research and diagnostic, applying new technologies that contribute to the acceleration of clinical genomics in oncology.
Our expertise is utilised in our molecular tumour boards, where oncologists and scientists come together to interpret results and direct treatment strategies personalised to the patient.
Rapid translation
We have a rapid pipeline to translate genomic research to the clinical setting
Our world-class healthcare and academic partnership accelerates our genomic research from the laboratory to the clinic, offering a personalised approach to treatment for cancer patients.
Our proven track record working with pharmaceutical and Biotech companies provide the opportunities for new collaborations to introduce advanced technologies into clinical use.
Our Technologies
Collaboration with research teams to design new bespoke panels
Next Generation Sequencing (NGS) gene panels for solid tumour & haematological malignancies
UKAS accredited
Whole exome Sequencing
Illumina NovaSeq 6000 high throughput DNA sequencer
Consolidated somatic testing for cancer in line with the NHSE National Genomic Test Directory Data Analytics
Tumour sites we cover
Our comprehensive Next Generation Sequencing panels have been designed to cover a comprehensive list of tumour sites:
Diagnosis
Karyotype
Prognosis
Gene panel sequencing
ddPCR
FISH
Copy number detection
Bladder Adrenal Bile duct
Breast Gastrointestinal Haematological Colorectal
Mutation gene detection
RQ-PCR
Neurological Head & Neck Gynae
Liver Lung/ Mesothelioma
Prostate Renal Pancreatic Salivary gland
Fusion gene detection
Chimerism
Disease monitoring
Sarcoma Skin/ Melanoma Thyroid
Marsden360
ctDNA
NGS
B&T cell clonality
HRD
Predictive
Our comprehensive genomic tests for cancer allow patients to receive the most optimal treatment possible. As we work together with clinical and research teams, our tests are always ready to identify patients who could benefit from even the most recently approved treatments.
Professor Mike Hubank, Scientific Director
Diagnostic Tests available for Haematological Malignancies and Solid tumours
Haematological Malignancies
Acute Myeloid Leukaemia (AML)
Acute Lymphoblastic Leukaemia (ALL)
Chronic Myeloid Leukaemia (CML)
Chronic Lymphocytic Leukaemia (CLL)
Myelodysplastic Syndrome (MDS)
Myeloproliferative Neoplasms (MPN)
B-Cell Disorders
T-Cell Disorders
Multiple Myeloma
Molecular Diagnostics Cytogenetics
RQ-PCR Translocation panel
FLT-3 and NPM1 mutation detection
DNA NGS panel
RQ-PCR Translocation panel
DNA NGS panel
BCR-ABl (quantitative)
BCR-ABL1 kinase domain mutation
IGHV Mutational status
DNA NGS panel (including TP53)
Karyotype study and FISH analysis using probes selected according to type of leukaemia
Karyotype study and FISH analysis using probes selected on lineage and age of the patient
Karyotype study BCR-ABL1 FISH analysis
TP53/ATM FISH analysis
DNA NGS panel Karyotype study and FISH analysis if required
DNA NGS panel (JAK2, MPL, CALR) Karyotype study
B-Cell clonality
DNA NGS panel Karyotype study and FISH analysis
T-Cell clonality
DNA NGS panel Karyotype study and FISH analysis
DNA NGS panel FISH analysis
Other Haematological Disorders DNA NGS panel
Stem Cell
Transplantation
Minimal Residual Disease Monitoring (MRD)
Karyotype or FISH analysis as appropriate
Lineage specific chimerism analysis
For those patients requiring follow-up, we offer accurate and sensitive MRD testing by RQ-PCR, according to original phenotype/genotype
Solid Tumours Molecular Diagnostics Cytogenetics
Prognostic indicator or predictor of response to therapy
DNA NGS panel
RNA Pan-Cancer NGS panel
ctDNA EGFR FISH analysis
Soft tissue Sarcomas Molecular Diagnostics Cytogenetics
Differential diagnosis of soft tissue sarcomas
RNA Pan-Cancer NGS panel
MDM2 ddPCR FISH analysis
Next Generation Sequencing (NGS) for solid tumours and Haematological Malignancies (DNA)
DNA NGS panel covers coding regions for 238 protein coding genes, including the TERT promoter. It also includes copy number probes for focal detection of amplifications and deletions, as well as the detection of large chromosomal gains/losses
The Illumina TruSight RNA Fusion Panel uses capture-based enrichment to target 1385 cancer fusion-associated genes and 21,043 exons; as well as targeting 160 bp of the 5ʹ and 3ʹ UTR of every targeted gene, which ensures that the full gene of every targeted gene is covered
Next Generation Sequencing (NGS) for solid tumours and Haematological Malignancies (RNA)
It detects the most common actionable gene fusions in solid tumours such as BRAF, ALK, ROS1, RET, NRG1, FGFR 1-4, as well as also being used successfully in the diagnosis and characterisation of sarcomas
It is also used for the detection of NTRK gene fusion positive solid tumours to direct treatment with tumour agnostic NTRK-inhibitors, according to NICE guidelines
Rapid circulating tumour DNA (ctDNA) EGFR
Real-time PCR test for the qualitative detection of defined mutations of the EGFR gene in non-small cell lung cancer (NSCLC) patients
The ctDNA NGS assay targets 74 genes to identify genomic alterations in cancer-associated somatic variants, which includes Single Nucleotide Variants (SNV) and insertions and deletions (Indels), with 18 genes examined for Copy Number Variants (CNV) and six genes for Fusions. Additionally, the assay can determine high microsatellite instability (MSI-High)
Real time Quantitative PCR (RQ-PCR)
IGHV Mutational status
B and T Cell clonality detection
Chimerism analysis
BCR-ABL1 detection
Fusion gene detection and monitoring in acute leukaemia
FLT3-ITD and NPM1 mutation detection
Droplet digital PCR (ddPCR)
Fluorescence in situ hybridisation (FISH)
Karyotype (chromosome analysis)
Detection and quantification of fusion genes in acute leukaemia and CML. The level of fusion gene transcripts is proportional to the tumour burden, monitoring response to treatment, transplant, remission status and possibility of relapse
Prognostic indicator for CLL
Differentiates between reactive and clonal proliferation in LPDs and acute leukaemias
Quantitative estimates of donor/recipient cells post allogeneic transplant; analysis of bone marrow and lineage specific chimerism in whole peripheral blood
Detects and monitors BCR-ABL1 in CML and precursor B-Lymphoblastic Leukaemia
Detects and monitors fusion gene transcripts in AML and ALL
Prognostic indicator for AML
Detection of rare DNA target copies, copy number variation (CNV), absolute quantification and gene expression
Fluorescent probes to identify small, submicroscopic chromosomal changes that are beyond the resolution of karyotype. Provides diagnostic and prognostic information for haematological and solid tumours
The number and visual appearance of chromosomes providing diagnostic and prognostic information for haematological and solid tumours
Test Definition
Our Next Generation Sequencing panels for solid tumours and haematological malignancies
Our NGS panels have been designed by oncologists for oncologists to cover the most common cancer related genes in solid tumour and haematological malignancies, required for determining treatment pathways:
Full NGS Panel
Core NGS Panel
Bespoke DNA NGS Panel
RNA Pan-Cancer NGS Panel
Single Gene Targeted NGS
Targeted NGS CRC Screen
Full gene sequences for 200 of the most common cancer related genes and chromosome level copy number variation (CNV)
Hotspot/full gene sequences for most common cancer related genes: the essential genes required for determining treatment pathways
Choose from our 200+ gene panel, the most relevant cancer genes, to help determine treatment pathways
Targets 1385 cancer genes for gene expression, variant, and fusion detection with known and novel gene fusion partners, allowing a comprehensive view of cancer pathways. In particular this methodology is used to identify NTRK fusion-positive solid tumours in adults and children to direct the use of Larotrectinib, as per NICE guidance
Hotspot/full gene sequence for a single cancer related gene required for determining treatment pathways
Hotspot/full gene sequence for a CRC related gene (KRAS, NRAS, BRAF) required for determining treatment pathways
Additional Gene Reporting Analysis and reporting of additional cancer related genes from the NGS panel required for determining treatment pathways
Circulating tumour DNA (ctDNA) testing is the process of taking a sample of body fluid (liquid biopsy) and testing it for the presence of tumour DNA, which is shed by tumour cells into the circulation. The Marsden360 assay is used for tumour mutation profiling from a liquid biopsy, for patients with any solid malignant neoplasm. Using highly sensitive Next Generation DNA sequencing (NGS), multiple abberations across multiple genes (74 gene panel, including fusions) can be detected with improved test sensitivity and specificity, resulting in improved clinical outcomes
The impact of our work
We have received a number of results that have given us information beyond that delivered by standard testing. Results have been returned within standard turnaround times to allow timely reporting.
These have resulted in rapid changes to the treatment and management of several children
Overall, on behalf of the whole clinical team we have been delighted with the impact this is having on patient care, with the added potential this testing offers these children.
Dr Jack Bartram, Consultant Paediatric Haematologist, Great Ormond StreetI have found the DNA and RNA panels highly effective in successfully identifying many de novo and acquired resistance TKI targets for both routine care and trials enrolment.
Professor Sanjay Popat, Lung Consultant Medical Oncologist, The Royal MarsdenWe’ve been so grateful for the benefits/improvements the RNA panel has had on Sarcoma Unit patient care, which includes far more precise delineation of rare neoplasms/ disease processes, much greater accuracy (including, importantly, for highlighting potential treatment targets), and always extremely helpful, kind and communicative colleagues/team work. I have been really happy with the turnaround times, always much appreciated!
Dr Khin Thway, Consultant Histopathologist for Sarcoma and Head & Neck unit, The Royal MarsdenIt is difficult to overstate how important profiling has become for everyday patient management. For example, the finding of an FGFR fusion means that the patient has the opportunity of highly effective non-chemotherapy treatment that will prolong survival by a year or more. It is difficult to underestimate the importance of this to patients who have often been given a poor prognosis.
Professor John Bridgewater, Consultant Medical Oncologist and Clinical Researcher at UCL Cancer InstituteWe are delighted to announce the partnership with Guardant Health, establishing a state-of-the-art liquid biopsy testing facility. In a clinical diagnostic setting, it will provide many of our patients with more rapid access to bespoke diagnostic testing, leading to earlier, faster, and more accurate diagnosis, along with targeted treatment selection and monitoring.
The opening of this service will also allow us to significantly increase our capacity for research using liquid biopsies. Bringing expanded capacity for genomic testing, the facility will help us identify more people with cancer for clinical trials based on targeted treatments, improving outcomes for patients across the UK and beyond.
Professor Michael Hubank, Scientific Director (Genomics) at The Royal Marsden and Professor of Translational Genomics at the Institute of Cancer Research, London
For further information on our service please visit our website
royalmarsden.nhs.uk/genomics
