Genetics Primer: What Is Behind a Molecular Test?

Abstract

Molecular pathology is a broad but distinct, new dimension added to the traditional approach of laboratory medicine in the investigation of human disease. This new division incorporates basic molecular biology themes for use in the clinical arena to investigate and characterize nucleic acids. We now know that many clinical entities have a genetic component central to their etiology. It becomes the role of the pathologist to recognize and provide support for clinicians by applying these new molecular methods in the diagnosis, classification, and prognosis of human disease. This affects anatomic and clinical pathology because new standards for disease diagnoses are being altered to reflect molecular pathology where appropriate. DNA tests may aid in the diagnosis and subsequent treatment; however, they frequently cannot change the course of the disease in affected individuals. Nonetheless, early diagnosis of specific mutations associated with morbidity and/or mortality assists in the diagnosis of human disease by providing additional diagnostic data not obtainable by conventional methodologies. This review introduces basic molecular foundations used in genetic approaches to define and characterize human disease. It is intended to serve as an introduction and encourage interested readers to increase their fund of knowledge by perusing many of the excellent text and reference books in this specialty.