Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics by Andrew J. Hogan (review)

In recent years, there has been a surge of interest in the history of human and especially medical genetics. An influx of professional historians into a domain once dominated by historically minded practitioners has generated a wealth of insights into the conceptual, institutional, and technological evolution of medical genetics and its clinical applications. Andrew Hogan’s Life Histories of Genetic Disease is a valuable contribution to the new scholarship in this domain.

For professional historians, medical genetics has always been entwined with the history of eugenics, with the emergence of the former often the subject of the final chapter(s) of studies of the latter. Not surprisingly, such discussions tend to focus on whether the relationship of pre–World War II eugenic institutions, personnel, and aims to postwar medical genetics is best characterized as one of continuity or discontinuity. Historians of eugenics continue to debate the issue with undiminished intensity, and it is a central theme in recent studies of human and medical genetics, including books by historians Ruth Schwartz Cowan, Alexandra Stern, and Nathaniel Comfort (although these authors differ in their approaches and conclusions). The question’s continued salience is perhaps explained by the entanglement of historical and contemporary policy issues given that how the continuity/discontinuity question is resolved still matters both for those who defend and for those who condemn selective abortion for fetal anomaly (and more recently, the prospect of heritable gene editing). Initially, Hogan too seems to highlight the issue, beginning the book with a section on eugenics and medical genetics and asserting: “The extent to which the medical genetics model of disease prevention resembled the aims of eugenicists before 1970 . . . is a consideration that animates the focus and analysis of this book” (p. 4). In fact, the continuity question is barely touched on in the pages that follow. In this reviewer’s opinion, that is all to the good given how often and at what length the issue has already been debated and the difficulty of saying anything genuinely new about it.

The value of the book lies elsewhere, including its sustained exploration of the development and self-reinforcing quality of what Hogan terms the one mutation, one disorder ideal—the view that to identify a common mutation indicated that the disease was distinct and could be diagnosed and ultimately prevented. The book’s overarching theme concerns the development and impact of a “chromosomal infrastructure” for the diagnosis and prevention of genetic disease. (Hogan uses the term “infrastructure” to mean something like a linked set of artifacts, techniques, concepts, skills, and practices that shape professionals’ expectations and are relied on to organize information and guide practice.) This infrastructure provided a range of benefits that could be discarded only at unacceptable cost. Thus, molecular approaches that might have seemed at odds with cytogenetic nomenclature and understandings and been expected to displace them were instead integrated into existing chromosomal “ways of seeing” the genome (p. 146). Although claims of a continuity between chromosomal and molecular structure and that chromosomal mapping continued to be highly relevant in the molecular biology era are not in themselves new (having been central to two 2004 books edited by Jean-Paul Gaudillière and Hans-Jörg Rheinberger on the “mapping cultures of twentieth-century genetics”), Hogan adds many truly interesting details about this and other aspects of the history of the chromosome.

The book has a rather unconventional structure, as it segues between analyses of the development of new techniques and “life histories” of three representative genetic diseases—fragile X, Prader-Willi, and DiGeorge/velo-cardio-facial syndromes—each chosen to reflect some distinctive aspect of the scientific or clinical development of medical genetics. The technique-oriented chapters alternate with the disease narratives, a structure that seems attractive in principle but, for this reader at least, made the narrative intermittently hard to follow, in...