The Birth and Development of Genetics and Genomics

Few areas of science and medicine are seeing advances at the pace we are experiencing in the related fields of genetics and genomics. It may appear surprising to many students today, then, to learn that an appreciation of the role of genetics in medicine dates back well over a century, to the recognition by the British physician Archibald Garrod and others that Mendel’s laws of inheritance could explain the recurrence of certain clinical disorders in families. During the ensuing years, with developments in cellular and molecular biology, the field of medical genetics grew from a small clinical subspecialty concerned with a few rare hereditary disorders to a recognized medical specialty whose concepts and approaches are important components of the diagnosis and management of many disorders, both common and rare.

At the beginning of the 21st century, the Human Genome Project provided a virtually complete sequence of human DNA—our genome (the suffix -ome coming from the Greek for “all” or “complete”)—which now serves as the foundation of efforts to catalogue all human genes, understand their structure and regulation, determine the extent of variation in these genes in different populations, and uncover how genetic variation contributes to disease. The human genome of any individual can now be studied in its entirety, rather than one gene at a time. These developments are making possible the field of genomic medicine, which seeks to apply a large-scale analysis of the human genome and its products, including the control of gene expression, human gene variation, and interactions between genes and the environment, to medical care.