Genetic disease in the 1960s: a structural revolution

From about 1955 to about 1975, an explosion of new institutions, disciplines, databases, interventions, practices, techniques, and ideas turned technically driven human genetics from a medical backwater to an exotic and appealing medical research frontier. In the early 1960s, health care professionals were attracted to the new insights of cytogenetics, including the chromosomal explanation of Down syndrome and of other congenital defects and abnormalities of sexual development. The discovery of a connection between myeloid leukemia and chromosomal abnormalities in leukemic cells made human cytogenetics suddenly relevant to cancer research and diagnosis. Successful dietary treatment of phenylketonuria brought genetic disease into the domain of public health and provoked legislative programs with sweeping long-term consequences. Meanwhile, those promoting the importance of genetic disease to medical education began to elaborate the idea that disease was literally becoming more genetic, as a consequence of techno-historical change. In this article, I present an overview of these remarkable events and a framework for understanding how and why they occurred. I emphasize the important roles of family members, religious isolates, legislators, pediatricians, and others who were not trained in genetic science, but who became advocates, at many levels, of genetic medicine. And I suggest that the idea, so important to the Human Genome Project, that "all disease is genetic disease" was structurally realized and institutionalized long before technologies for mapping the genome were available.