Report Card on Molecular Genetic Testing:  Room for Improvement?

Few areas of medicine are evolving as rapidly as molecular testing, and virtually no area holds so much promise for altering the practice of medicine. Of course, testing based on molecules has been conducted from at least the time when physicians tasted urine to detect glycosuria. Today multiparameter automated chemical analyzers have greatly extended the ability to test for hundreds of compounds in any sample of the human body. But the term molecular genetic testing now refers specifically to nucleic acid analysis, usually involving DNA. The techniques have become so sophisticated and numerous that increasingly the average physician can have no more understanding of molecular genetic testing than of the inner workings of the instrument that performs a chem-18. However, several points warrant emphasis: the scope and impact of molecular testing continue to expand, organized medicine must ensure the highest quality of the molecular testing process, and what comes before and after most molecular tests (the preanalytic and postanalytic aspects) are often just as important as the test itself and do involve a health professional, often a physician, to a high degree.