Abstract
The South East Genomic Laboratory Hub provides genetic and genomic testing for 19 acute NHS Trusts and 9 non-acute NHS Trusts in the South London, Kent, Surrey and Sussex region. Within the solid tumours service, we process DNA and RNA from patients with a range of cancer types and analyse them using next generation sequencing (NGS) assays.
Once the variants within a patient’s sample are identified, Clinical Scientists review them and consider what impact they would have on the function on the protein encoded by that gene. Through a process called somatic variant interpretation, the variant will be classified according to its clinical significance in relation to providing diagnostic, prognostic, or therapeutic information.
Some examples of the utility of this service include identification of:
- resistance variants in EGFR within the tumours of patients with non-small cell lung cancer, providing the clinician with information to support a change to the patient’s treatment.
- gene rearrangements involving TMPRSS2 can support a diagnosis of prostate cancer.
- certain variants in POLE within the tumours of patients with endometrial cancer can classify their tumour into a subgroup which is associated with an excellent prognosis
Learning outcomes
Delegates attending this presentation will have:
- An appreciation of the value of genomic testing in solid tumours
- A basic overview of predominant pathways involved in carcinogenesis and how these can be used as therapeutic targets.
- Develop an understanding of current, new and emerging therapies.
×
Katie Jones
Clinical Scientist, Cancer Genomics, Synnovis, Guy's Hospital
After completing the Scientist Training Programme in Cancer Genomics in the South West Genomics Laboratory Hub, Katie joined the Solid Tumours service at Guy's Hospital within the South East Genomics Laboratory Hub. In this role, she acts as deputy service lead and training coordinator. The solid tumour service utilises Next Generation Sequencing and Whole Genome Sequencing to provide information that can assist in diagnostic, prognostic and treatment decisions for patients within the geography.