Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. This handbook provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting.

* Serves as the definitivereference for molecular pathologists worldwide

* Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics

* Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

In the past, many tumor marker laboratory tests have not been sensitive enough for the very early detection of cancer. However, many of them have nonetheless proved useful in monitoring therapy, following the course of the tumor, and predicting prog- nosis. Today, cancer may be viewed as a genetic disease with various specific chromo- somal and nucleotide aberrations, such as mutations, deletions, gene amplification, gene rearrangements, and translocations occurring during the transformation of a nor- mal cell into a malignant cell. The considerable advances in technology during the past several years have greatly enhanced our ability to detect human cancers in the very early stages of tumor forma- tion. These technologies include: (1) nucleotide molecular assays (genomics); (2) proteomics (multiplex protein measurements); (3) DNA microarrays; and (4) bio- informatics. Many of these technologies are already helping in the integration and use of multiple biomarkers for tumors. Although the individual biomarkers may reveal only limited information, the use of multiple biomarkers can help markedly elevate the diagnostic capabilities for early detection of tumors.