Genomics & Pharmacogenomics

Biography

Biography: Julie Earl

Abstract

Although overall cancer survival rates are improving, many patients present with advanced disease with distant metastasis which impacts severely on their survival hopes. The crucial factor to improve prognosis is early detection at a potentially curative stage and adequate management of patients after diagnosis. However, there are few sensitive and specific biomarkers in the clinic that aid the management of these patients. The concept of the liquid biopsy and the detection of Circulating Tumor Cells (CTC) and circulating free tumor DNA (cftDNA) in blood have gained momentum over the last few years. In fact, they have been shown to be potential early indicators of tumor spread that may not be visible on imaging as invasive but localized tumors may shed CTC and DNA into the blood stream before a metastasis is established. However, it is important to be able to distinguish between non-tumor and tumor cells and DNA in these types of studies. Thus we take advantage of the genetic aberrations commonly found in primary tumors that serve as positive indicators of tumor cells and their DNA such as mutant KRAS, EGFR and TP53. The advent of digital PCR allows us to detect minute amounts of DNA in blood that originates from the tumor and has revolutionised these types of biomarker studies. The liquid biopsy samples are of great importance in cancer genomic research, particularly when tissue biopsies specimens are limited and in the future could revolutionise the field of oncology and become an invaluable diagnostic, prognostic and predicative marker in the field of oncology.