The impact of cancer genomics across the surgical pathway

Abstract

The human genome is comprised of 3 billion base pairs and understanding genomics is crucial for providing modern surgical care. Variants (mutations) in DNA can predispose to disease. Cancer genomes are heterogeneous, and a tumour is often comprised of multiple different clones of cells (tumour heterogeneity). Genomics has implications for screening, diagnostics, pharmacogenomics, identifying minimal residual disease (MRD) and monitoring disease. Testing in NHS England is performed by seven genomic laboratory hubs that provide testing for rare disease and cancers. Testing includes single gene tests, gene panels, whole exome sequencing (WES – coding genes only) and whole genome sequencing (WGS). Circulating tumour DNA (ctDNA) is being used as a diagnostic tool in non-small cell lung cancer and is being used more widely for other cancer indications including monitoring of disease to personalize chemotherapy choice based on the tumours' molecular profile. Cancer vaccines are a type of immunotherapy that can prime the immune system to identify cancer cells and destroy them. The BNT122-01 colorectal cancer study, for example, uses an mRNA vaccine that is bespoke to a patient's tumour (patients that are ctDNA positive and are receiving adjuvant chemotherapy). Surgical teams need to be educated and up-skilled in the use of these new technologies to personalize care and improve outcomes.