Molecular diagnostics 101: how to use genetic tests in classical hematology

Abstract

Increasing use of clinical diagnostic genomic assays over the past 2 decades has enabled us to expand our understanding of the clinical spectrum of known diseases, as well as the genetic landscape and paradigms surrounding diverse clinical phenotypes. Taken together, this has provided significant insight into the pathobiology and genetic mechanisms driving human disease, ushering in a new era of molecular medicine. This review aims to help hematology providers understand how to conceptualize and strategize the appropriate use and interpretation of genomics tools in the context of other available forms of information and the evolving genetic concepts and paradigms relevant to their field.