Moments of Truth in Genetic Medicine

Chapter 3: Provenance and the Pedigree: Victor McKusick’s Field Work with the Pennsylvania Amish

chapter 3 P R O V E N A N C E A N D T H E P E D I G R E E Victor McKusick’s Field Work with the Pennsylvania Amish Provenance is the record of the “ultimate derivation and passage of an item through its various owners.”1 It is commonly used to describe the history or pedigree of a painting—who has owned it, its value at various stages of ownership —but it also has a meaning in silviculture, in which it refers explicitly to genetic stock. Provenance, for forestry professionals, is the record of where a seed was collected and the character of the “mother trees.” In this chapter, I explore provenance in both senses, as a record of ownership and as a record of genetic stock. The ownership to which I refer is both biological and intellectual. Someone’s body yielded every blood sample collected in the vast postwar project of human genetic population research. Every sample belonged to a certain person, and that person’s identity was specified in some form in the textual record built around the blood sample. Someone had originally “owned” the blood when it flowed in their veins, and though the blood changed hands and moved to a laboratory, it retained an identity linked to the original owner. But ownership is also a way of characterizing the experience of knowing something: just as blood came from specific persons , so too did data, evidence, and interpretation. And like blood, these bits of knowledge were sometimes linked textually to their original source, track- able through the archival and even the published record to the persons who had originally experienced them or had originally come to know that they were true. My primary focus here is on Victor McKusick’s field work with the Pennsylvania Amish in the early 1960s, especially his work with a rare form of dwarfism, Ellis–van Creveld syndrome. But McKusick’s field work was only a small part of a much larger project in postwar human genetics. In the 1950s and 1960s, human geneticists and other technical experts carried out relatively large-scale studies of human populations around the globe. Geneticists from the United States and from the scientific centers of Europe generally traveled to stay briefly (for a few weeks or months) with an isolated population of some kind, and while in the field they collected blood and other biological materials, including urine, feces, breast milk, tissue samples , hair samples, and teeth. They also collected family narratives, asking those they studied to describe their family trees, with special attention to cases of disease. They took photographs or made drawings, and they often measured the people they were studying (height, weight, arm and leg length, torso length). Then they returned with the drawings, photos, notes, and tissue samples to their home laboratories, to assess the data and prepare publications . Such practices of field collection and data analysis had begun in biomedical research as early as the 1910s. The Brazilian geneticist Francisco Salzano reported in 1957 that there were already ninety-five published scienti fic papers focused on blood analysis of South American indigenous groups, dating back to the 1930s. Geneticists and other scientists had tracked down isolated groups, convinced individuals to submit to a blood test, labeled the blood to be sent to a laboratory for processing, and aggregated the findings to reach conclusions about human history. The Carib, Guajiro, Piaroa, Guahibo, Arawak, and Caramanta had all been bled and tested—439 Pijao Indians in Colombia were subjected to blood testing for a paper published in 1944, and almost three thousand Andean Indians of various groups in Ecuador for a paper in 1952; also studied were the Quechua of Peru, Tucano of Brazil, Alkuyana of Surinam, Matacos of Argentina , Maca of Paraguay, and Panzaleos of Ecuador. These populations had thereby been physically brought into technical explorations of race, migration , mutation, and “white admixture.” This sort of research, then, was not new in 1950. But it does seem to have accelerated after 1950. This acP R O V E N A N C E A N D T H E P E D I G R E E 5 9 celeration might have been facilitated by enhanced technological capabilities at two unrelated levels: laboratory analysis of blood grew more informative , and air travel improved. What were geneticists expecting these...