Introduction: molecular testing for early cancer diagnosis: ready for prime time

Abstract

Early detection of cancer dramatically improves cancer outcomes but depending on the technology used and its implementation, there can be substantial problems with over and under-diagnosis. Hence, some established screening programmes have come under critical scrutiny because of the precarious balance of risks and benefits for the individual and for society. Most traditional screening tests do not use molecular information. The question arises as to whether, in an era of huge technological advances in molecular diagnostics, we can transform this field of medicine and overcome some of the obstacles which give screening a bad press. Dr. Marc Tischkowitz will discuss genetic testing for pre-disposition syndromes and use the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study as a specific example, since it explores a new way of offering BRCA1/2 testing in mainstream oncological practice. This study explored the psychological impact of mutation testing as well as the diagnostic yield. Professor Peter Sasieni will discuss the role of molecular biomarkers at the level of the tissue and whether these are so much better than traditional risk factor and simple biomarkers. Finally, Rebecca Fitzgerald will provide a specific case study for the potential of molecular biomarkers to radically alter a clinical care pathway. Specifically she will discuss the data from clinical studies in which molecular biomarkers were applied to a non-endoscopic cell collection device (Cytosponge) to diagnose Barrett’s oesophagus and associated dysplasia/carcinoma in situ with applicability to the primary care setting.

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