This accompanies Michael F. McGovern BJHS article Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine

The notion of a ‘genomics revolution’ tends to conjure up images of buildings with floor-to-ceiling glass windows, chock full of state-of-the-art sequencing machines and dedicated conference rooms for meetings between academics and biotech executives, rather than sweltering hospital basements full of patient records, samples, and endless rows of physical journals. However, a spate of recent scholarship (including work by Jenny Bangham, Soraya de Chadarevian, Andrew Hogan, María Jesús Santesmases, and Bruno Strasser) has reevaluated the role of the clinic and collections in the making of modern genetics.

My article contributes to this line of inquiry by considering how an information infrastructure for keeping track of human genes was built and changed across the latter decades of the twentieth century, allowing clinicians to stay in sync with a rapidly changing biomedical literature. The story of Victor A. McKusick’s Mendelian Inheritance in Man has much to tell us about the nature and politics of biomedical publishing during the rise of computing, but three features stand out in particular.

First, the catalogue drew on earlier efforts to systematize eugenic knowledge but abandoned distinctions between normal and pathological traits. Its focus on Mendelian disorders, however, was challenged when research in the 1990s complicated understandings of inheritance mechanisms. Second, the technicalities of digitization matter. The catalogue is known for the ID scheme it gave human genes, but it began using ‘author’ as the primary record locator. Finally, in following a set of representative disorders across different editions of the catalogue, I draw out some generalizations about the project as they pertain to the ethics and philosophy of information: centralization is never neutral, not all entities are created equal, and knowledge is sticky.

On the whole, I hope the article encourages interest in the maintenance work that separates knowledge from data deluge.

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Main image: Kit for DNA sequencing, Europe, 1987. Credit: Science Museum, London. Attribution 4.0 International (CC BY 4.0)