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Updated: Sep 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Medicalizing risk: How experts and consumers manage uncertainty in genetic health testing
Meghna Mukherjee1, Margaret Eby1, Skyler Wang1
1Department of Sociology, University of California Berkeley, Berkeley, California, United States of America.
Abstract:
Given increased prevalence of direct-to-consumer (DTC) genetic health tests in recent years, this paper delves into discourses among researchers at professional genomics conferences and lay DTC genetic test users on popular discussion website Reddit to understand the contested value of genetic knowledge and its direct implications for health management. Harnessing ethnographic observations at five conferences and a text -analysis of 52 Reddit threads, we find both experts and lay patient-consumers navigate their own versions of "productive uncertainty." Experts develop genetic technologies to legitimize unsettled genomics as medical knowledge and mobilize resources and products, while lay patient-consumers turn to Internet forums to gain clarity on knowledge gaps that help better manage their genetic risk states. By showing how the uncertain nature of genomics serves as a productive force placing both parties within a mutually cooperative cycle, we argue that experts and patient-consumers co-produce a form of relational medicalization that concretizes "risk" itself as a disease state.
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