General Approach to Molecular Pathology

Once a highly specialized subdiscipline of laboratory medicine, molecular diagnostics now infiltrates all of anatomic and clinical pathology. The shift from dependence on a few, relatively cumbersome methods to a wider range of technologies has facilitated this expansion. In addition, the completion of the Human Genome Project and the growing amount of sequence data related to infection, cancer, and other disease states have yielded additional applications of molecular biology for the clinical laboratory (Figure 7.1). As the various phases of testing can be automated in many instances, molecular biologic experience is no longer a prerequisite. In fact, performance of nucleic acid extraction and amplification in a tabletop unit is possible.1, 2 Increasingly, miniaturization will further move molecular testing to the point of care.3 Open image in new window Figure 7.1 Molecular diagnostics encompasses the use of nucleic acids to diagnose infection, malignancy (hematologic and solid tumors), and genetic diseases. Other major foci include the investigation of human remains and crime scenes (forensics) and evaluation of transplant donors and recipients (human leukocyte antigen [HLA] testing).