Cancer Genomics

Cancer Biopsy

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Cancer is a heterogeneous genetic disease, and excisional biopsies provide only a snapshot in time of some of the rapid, dynamic genetic changes occurring in tumours. In addition, excisional biopsies are invasive, can’t be used repeatedly, and are ineffective in understanding the dynamics of tumor progression and metastasis. However, liquid biopsy, or blood-sample tests, under development by Epic Sciences can generate actionable information for oncologists by analysing circulating tumor cells (CTCs) and fragments of tumor-cell DNA that are continuously shed by tumours into the bloodstream. Highly sensitive analysis of individual CTCs have demonstrated a high level of heterogeneity seen at the single cell level for both protein expression and protein localization and the CTCs reflected both the primary biopsy and the changes seen in the metastatic sites. By detecting and quantifying genomic alterations in CTCs and cell-free DNA in blood, liquid biopsy can provide real-time information on the stage of tumor progression, treatment effectiveness, and cancer metastasis risk. This technological development could make it possible to diagnose and manage cancer from repeated blood tests rather than from a traditional biopsy. Building on the positive results from exploratory whole genome sequencing the analysis is narrowed down to specific bladder cancer-related genomic regions to enable both accurate and cost-efficient detection of bladder cancer from urine.