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Special Communication
November 14, 2001

The Anatomy of the Human GenomeA Neo-Vesalian Basis for Medicine in the 21st Century

Author Affiliations

Author Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Md.

JAMA. 2001;286(18):2289-2295. doi:10.1001/jama.286.18.2289

Since 1956, the anatomy of the human genome has been described on the basis of chromosome studies, gene mapping, and DNA sequencing. The gross anatomy of Andreas Vesalius, published in 1543, played a leading role in the development of modern medicine. The objective of this article is to show that knowledge of genomic anatomy is having a comparably strong and pervasive influence on all of medicine. The research revealing human genome anatomy is reviewed. The insight provided by genome anatomy has brought about shifts of focus, both in research and in the clinic, eg, from genomics to proteomic and from the individually rare, single-gene disorders to common disorders. Genomic anatomy permits medicine to become more predictive and preventive. At the same time, diagnosis and treatment are rendered more sensitive, specific, effective, and safe. Hazards in misuse and misunderstanding of the information exist. Education of both the public and health professionals is vital if the full benefits of neo-Vesalian medicine are to be realized.