In the 1850s, a physician at St. Bartholomew Hospital in London struggling with an unclear case of fever with affection of the bowels might have wanted to find information about the patient’s prognosis or an alternative medical treatment. Likewise, a medical student preparing a case for presentation to the hospital society, might have wanted further information about typhus fever, namely, its course, average prognosis, possible complications, and treatment. Both doctor and student would probably visit the library of the hospital’s “Medical College” to find comparable cases and case reports in voluminous bound casebooks.
Over four decades ago, the distinguished epidemiological psychiatrist Norman Sartorius wrote, “the history of psychiatric classification is in fact a history of psychiatry.”1 During the 1960s and 1970s, Sartorius had been at the center of research by the World Health Organization (WHO) on the international classification and prevalence of mental disorders. During that era, the organization significantly transformed its classificatory manual, the International Statistical Classification of Diseases and Related Health Problems (ICD), releasing the ICD–9 in 1977. The ICD is the standard international manual for recording mortality and morbidity data for insurance and epidemiological purposes. WHO is currently in the final stages of completing its latest update to the text, ICD–11.
As of my writing on April 12, 2018, there are 24,506 known or suspected human genes out of roughly 3 billion base pairs in the reference sequence of the human genome.1 While the bulk of these were identified during the course of the Human Genome Project (HGP), which ran from 1990–2003, a majority of the 5,000 or so with a well-characterized clinical phenotype—a genetic trait visible in human anatomy and physiology with consequences for human disease manifest above the cellular level—were cataloged beginning in the 1960s, long before genetic sequencing was possible. Medical geneticists worked to identify heritable traits in study populations that manifested unambiguously in family lineages. They set up clinics around the world and established sections in academic hospitals.2 In a discipline that was still marginal to mainstream medicine and tainted by its incomplete severance from eugenics, breaking apart old categories and multiplying new ones became a legitimation strategy, one that required physicians and counselors across the country to be on the same page.