The Nuanced Negative: Meanings of a Negative Diagnostic Result in Clinical Exome Sequencing

Negative results from clinical tests have seldom been the focus of sociological inquiry, but in the context of genomic sequencing, a negative result encompasses nuanced meanings and uncertainties that require communication and interpretation. This article is based on an ethnographic study of NCGENES—observations of clinic sessions where negative diagnostic results from exome sequencing (ES) are communicated and follow-up interviews with adult patients and parents of child patients who learn such results. We examine how both clinicians and patients construct the meaning of a negative result in ways that are uncertain and contingent, but invested with optimism and promise. The potential for the ES negative result to become “not negative” in the future continues to engage patients with the clinic and extends the diagnostic biocollective beyond the lab and clinic to these patients and their families.

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