Andrew J. Hogan

Dissertation: "Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome, 1969-Present"    

 (Advisor: Prof. Susan Lindee)

My research looks at the history of postwar genetics and biomedicine, with a particular focus on the role of chromosomal analysis in the delineation, diagnosis, and understanding of genetic disorders. I examine the impact of various visual techniques and conventions on the ‘look’ and classification of diseases in the laboratory and the clinic. Many scholars have highlighted the ‘informational’ approaches of postwar genetics, which treat the human genome as an expansive data set composed of three billion DNA nucleotides. Since the 1950s however, clinicians and geneticists have largely interacted with the genome at the microscopically visible level of chromosomes. Through histories of Fragile X, Prader-Willi, and other syndromes, I examine the ‘observational’ approaches of postwar genetics. As part of this, I explore how clinicians and geneticists locate, assess, and develop confidence in correlations between visible chromosomal markers and likely clinical outcomes.

The human genome has become an important conceptual space in biomedicine, where the questions, interests, and conventions of basic genetics and applied clinical research intersect and intermingle. A century ago, William Bateson famously reminded geneticists to “Treasure your exceptions!”: a dictum that remains central to genetics today. In postwar biomedicine however, the 'exceptions' that geneticists treasure have become increasingly synonymous with the uncertain results that clinicians would prefer to avoid. I examine this tension in biomedicine over the value of – and openness to – unexpected findings, which at once frustrate the diagnostic process, and fuel new research questions, perspectives, and understandings.