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Paper short abstract

This paper explores how genomic screening researchers redefine diagnostic uncertainty as prospective informativity, reshaping the aims and practices of population screening. I argue that the “meantime” of uncertain genomic information is here reconstituted as an argument for advancing screening.

Paper long abstract

Population screening programmes are notoriously susceptible to uncertain outcomes. Classic scholarship describes how screening unsettles diagnostic categories, producing “patients-in-waiting” suspended in a liminal space between disease and health (Timmermans and Buchbinder 2010). Where an extensive critical literature has explored the reoccurrence and consequences of diagnostic uncertainty in screening (Gillespie 2015; Gaspar et al 2020; Pienaar and Petersen 2021), this paper takes an alternative approach, examining how an influential group of genomics experts are redefining diagnostic uncertainty as prospective informativity. Drawing on interviews with leaders of a US-based genomic population screening initiative, and an analysis of guidance published by the American College of Medical Genetics and the Centers for Disease Control, I describe how experts are recharacterizing uncertain and negative genomic findings as eventual health insights, situating present-day genomic information as necessarily unstable and subject to revision. I argue that this anticipated future informativity structures genomic screening research in three ways: first, by demanding the adaptability of screening pipelines, such that targeted genomic variants can be updated and expanded; second, by transforming the communication of screening results, such that a nonfinding is re-articulated as not currently informative; and third, by encouraging primary care providers to view genomic information as routinely and progressively useful. By elucidating how the unstable nature of genomic knowledge is proactively and positively anticipated, I demonstrate how genomic screening researchers reframe the “meantime” of uncertain data as argument for advancing screening. I conclude by discussing the consequences of this reframing for patients and for public health.