History of medical genetics

This article is a revision of the previous edition article by Victor A McKusick, volume 1, pp 3–32, © 2007, Elsevier Ltd. During the past 60 years, since Medical Genetics first became a defined field of genetics, and a medical specialty in its own right, it has changed and developed at a remarkable pace. It is thus important to record its history, both its clinical and its laboratory aspects, while most of the original founders are still living, since those entering the field and those increasingly using it in wider medical research and practice, may have little knowledge of how Medical Genetics began. This chapter, largely written by Dr Victor McKusick, now deceased and himself a central figure in the history of Medical Genetics, has been extended by Peter Harper. It first outlines the foundations of Medical Genetics in more general genetics in the first half of the twentieth century, before examining the key later scientific discoveries of the last 60 years, including the human gene map and the Human Genome Project; the clinical advances that have increasingly followed from these advances; and the growth of Medical Genetics as a specialty in both clinical and laboratory medicine. Finally, the chapter emphasizes the importance and urgency of preserving the written records and other historical material underlying these discoveries, as well as the memories and correspondence of the many scientists and clinical workers worldwide who have been responsible for the development of this remarkable field of science and medicine