Clinical Cancer Genomic Diagnostics and Modern Diagnostic Pathology

Abstract

Overview New techniques in next‐generation sequencing, digital pathology, and artificial intelligence have emerged as important tools to inform early detection, clinical and pathologic diagnoses as well as therapeutic decision‐making. This chapter focuses on multiple types of tests that take advantage of next‐generation sequencing for current applications in clinical practice. Genome‐wide mutational signatures are informative at a number of levels, not only linking specific exposures to cancer, but also providing prognostic and predictive information. Digital pathology and analytic approaches with artificial intelligence are also highlighted. Finally, the potential of liquid biopsy is discussed across the spectrum from early detection to monitoring for residual disease, surveillance, and recurrence and treatment planning.