A Short History of Medical Genetics (review)

Cardiff University’s Human Genetics Professor Emeritus Peter S. Harper has created what is destined to become a classic work which captures the critical historical developments within genetics as applied to medicine, especially over the past fifty years. Having spent much of his life pursuing what has become a remarkably accomplished career in medical genetics, Harper noted the dearth of material preserved within an easily accessible resource to which historians, social scientists, and geneticists could readily turn for a foundational history of what has unfolded to become the specialty practice of medical genetics. A Short History of Medical Genetics most aptly fills that void.

Following a helpful introductory section devoted to the foundations of human and medical genetics covering the observational records of the seventeenth century through the drosophila studies and statistical application period of early twentieth century “classical genetics,” Harper turns his attention toward the first of two major sections of the book. In the section called Human Genetics, the author describes cytogenetic breakthroughs beginning with the discovery of chromosomes, the advent and utility of biochemical genetics, the creation of the human gene mapping, and the investigations associated with human gene population studies. Thereafter, Harper introduces readers to what he envisions as the emerging post-WWII specialty of medical genetics. Though acknowledging that human and medical genetics are “closely interrelated in current research and practice,” he justifies his distinction between them in historical terms, given that geneticists who “started their careers after World War II had consciously decided, following the catastrophes of Nazi eugenics, to turn their back on immediate medical applications” (137). As his work shows, it was not until the end of the 1950s that a new link was established between genetics studies and medicine.

Harper who, as a medical geneticist, gained worldwide acclaim for his neurogenetic research into Huntington’s disease and myotonic dystrophy successfully crafts the Medical Genetics section of his Short History from the dual perspectives of history maker and historian. In it, we learn of a multitude of laboratory advancements, of the refined focus upon genetics at the molecular level, and of what represents a true case study of that recently named field Translational Medicine, in that Harper provides ample detail of the application of medical genetics laboratory research findings toward the improved management, treatment, and ultimately prevention of human genetic diseases.

Only after providing the core biomedical science does Harper turn, in brief, toward a discussion of related societal issues, including depictions of various eugenics movements, the “tragedy” of Russian Genetics, and the myriad ethical concerns surrounding post-WWII medical genetics. Though making repeated claims to distance the intent and style of his own writing from that of medical historians and biomedical ethicists whom he fears will disapprove of his having “broken many of the rules” of scholarship in these disciplines (3), Harper’s concerns seem overextended. In short, he provides a very telling historical chronology that includes many of the most pertinent features of the broader societal and ethical dimensions of applied medical genetics to the human population. He aims to ensure that “younger generations of geneticists” become “fully aware” of these social dimensions so that “they can see the extent of the disasters that have happened” and to “ensure” that the “specialty of medical genetics is at the forefront in making certain that they never happen again” (403). Not only has Harper succeeded in reaching this aim, but he has also provided the growing number of nonmedical geneticists working in the history of this field with an easily accessible narrative of concise yet complete explanations of the most pertinent bioscientific changes within the relatively rapidly evolving fields of human and medical genetics throughout the twentieth century. Without diluting the content, Harper elevates his readers to appreciate and understand the complexity of scientific genetics using clear language supplemented with helpful diagrams, chronological tables, and riveting vignettes of those deemed to be leading history makers. By doing so, Harper has provided a lasting contribution in documenting the...