Genomic approaches to accelerate cancer interception

Abstract

Although major advances have been reported in the last decade in the treatment of late-stage cancer with targeted and immune-based therapies, there is a crucial unmet need to develop new approaches to improve the prevention and early detection of cancer. Advances in genomics and computational biology offer unprecedented opportunities to understand the earliest molecular events associated with carcinogenesis, enabling novel strategies to intercept the development of invasive cancers. This Series paper will highlight emerging big data genomic approaches with the potential to accelerate advances in cancer prevention, screening, and early detection across various tumour types, and the challenges inherent in the development of these tools for clinical use. Through coordinated multicentre consortia, these genomic approaches are likely to transform the landscape of cancer interception in the coming years.

Figure 1. Opportunities for Genomics to Impact Cancer Interception

Prior to cancer treatment, there are opportunities for cancer interception in the prevention, screening, and diagnostic settings. Genomic profiling can detect exposure-specific mutational signatures and genetic susceptibility loci to identify high-risk individuals. Genomic profiling of precancerous tissue can identify targets for chemoprevention and biomarkers for risk stratification. For advanced cancer, less-invasive genomic biomarkers can aid in diagnosis and disease monitoring.