Fundamentals of Diagnostic Molecular Biology

Advances in molecular and cell biology have provided us with an understanding of the mechanisms of disease at the molecular and genetic levels. Diagnostic Molecular Biology is a class of diagnostic tests that assess a person's health literally at a molecular level, detecting and measuring specific genetic sequences in DNA or RNA or the proteins they express. Molecular diagnostics identify gene, RNA, and protein variations that shed light on whether a specific person is predisposed to have a disease, whether they actually have a disease, or whether a certain treatment option is likely to be effective for a specific disease. Molecular diagnostic tests detect specific sequences in DNA or RNA that may or may not be associated with disease, including single nucleotide polymorphism (SNP), deletions, rearrangements, insertions and others. These tests also can detect and quantify the presence of specific viruses, bacteria, or types of cells. It is a dynamic and transformative area of diagnostics that revolutionizes health care. It helps to uncover the underlying mechanisms of disease. It enables clinicians to care at an individual level and impede the practice of personalized medicine.