Integration of genetics into medical practice.
It has been a century since the first human genetic disorders were recognized, but only recently have there been any prospects that the genetic approach would become integral to medical practice. Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders. There were major successes, including chromosomal analysis, prenatal diagnosis and newborn screening for inborn errors of metabolism, but the impact was confined to a relatively narrow corner of medicine. The situation has changed, however, with advances in genetics and especially with the sequencing of the human genome. The tools are now at hand to begin to understand the genetic basis of common as well as rare disorders. It is expected that this will lead to major advances in both diagnosis and treatment, so that physicians in all areas of medicine will be using the tools of genetics in their daily practice.
Korf
Bruce R
BR
Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg. 230, Birmingham, AL 35294-0024, USA. bkorf@uab.edu
D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005826:Genetics, Medical / Q000639:trends*; D016045:Human Genome Project; D006801:Humans