Overview of Methods Used in Predictive Biomarker Studies in a Molecular Anatomic Pathology Laboratory

Abstract

The development of predictive biomarkers is a multifactorial laboratory exercise. In this chapter, we address some of these determinants: the pre-analytical factors that may influence downstream molecular tests; the types of sample and the essential use of the morphomolecular aspects in order to evaluate tumors as part of analytical variable management; the use of biorepositories; and the choice of most appropriate technologies for predictive biomarker medicine. Together, these represent the laboratory milieu that requires management for the successful analysis, and effective delivery of a predictive biomarker, from sample collection to test interpretation, including the potential for circulating tumor, cell-free DNA as a biomarker of discovery or profiling. We emphasize the need for effective and robust validation of tests and the recording of clear and concise management throughout the process of biomarker development. In doing so, we propose that morphological analysis remains the cornerstone of tissue-based diagnostics, and we propose a morphomolecular paradigm to modern pathology and modern diagnostics in the era of molecular medicine.