SPECIAL COMMUNICATION The Anatomy of the Human Genome A Neo-Vesalian Basis for Medicine in the 21st Century

THE LINEAR ARRANGEMENT OF genes on our chromosomes is part of our microanatomy. When we speak of mapping genes on chromosomes, we use a cartographic metaphor. An equally appropriate anatomic metaphor is the anatomy of the human genome. Clinical cytogenetics (starting in the late 1950s), mapping genes on chromosomes (beginning for autosomes in the late 1960s), and comprehensive DNA sequencing of the genome (initiated in the late 1980s) have provided, in the words of Charles Scriver, MDCM (oral communication, 1982), a neo-Vesalian basis for medicine. The influence on medicine is fully as great as was that of Andreas Vesalius’ de corporis humani Fabrica, which was published in 1543 and was the basis of Harvey’s physiology of the circulation (1628) and Morgagni’s morbid anatomy (1761). The history of medical genetics can be discussed in 2 parts, the pre-1956 foundations of medical genetics going back to Mendel and the greats of the first half of the 20th century, and the developments in the period since 1956, during which medical genetics has evolved into a full-fledged clinical and academic field. The objective of this article is to trace the influence of chromosome studies, gene mapping, and DNA sequencing (the Human Genome Project [HGP]) on the evolution of medical genetics since 1956.