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Paper short abstract:

This paper documents new collective practices of measurement and regimes of justification employed by patients suffering from rare conditions, treating them as prefigurations of new evidential regimes and constructs of “small data” that are likely to gain salience with the advance of personalized medicine.

Paper long abstract:

This paper concerns a collective practice of measurement that might be thought of as the obverse of big data: how patients with super rare diseases (conditions that are suggestively referred to as "orphans" and "ultra-orphans") mobilize to challenge and "talk back to" prevailing evidential regimes in biomedicine. Because these regimes regard double-blind RCTs as the evidential "gold standard", conditions which have a low incidence in the population cannot readily yield up evidential gold, but only the dross of small numbers. Absent the power of "robust evidence", orphan conditions are understudied, and what therapies have been developed tend to be exorbitantly priced (because of negligible market share), and underfunded by public bodies charged with distributing public resources equitably and in accordance with principles of "value for money". Based on ethnographic research among patient activist organizations and health technology assessment agencies, this paper will explore the networks and strategies through which patient-activists seek legitimacy and influence. Of particular interest are three questions: 1) What kinds of lateral and lay-expert alliances develop between patients with rare conditions and the pharmaceutical industry in attempting to redefine evidence, value, and fair price? 2) What repertoires of evaluation, regimes of justification, and principles of exceptionalism are mobilized to argue for access to orphan medications? 3) How might these frameworks, alliances, and data gathering practices from below prefigure shifts in evidential regimes that are likely to gain salience with the promise of personalized medicine and the genomically-aided stratification of more common diseases into ever more specific subtypes?