Un/Diagnosed: Family Experience of Genomic Diagnoses and the Re-Making of (Rare) Disease in the UK.

Abstract

Drawing on three years of ethnographic engagement with the rare disease community in the United Kingdom and Europe, this article explores the experiences of families who seek and (sometimes) receive a genomic diagnosis. I trace how families learn to enact unexplained symptoms and common disabilities as rare, genetic disorders, and how they coordinate genomic and non-genomic ways of "doing" disease within and beyond the clinic. These experiences shed light on the socio-material processes through which genomic variants become "diseases" (or fail to do so), and on the implications for those whose lives have become entangled with the genomic agenda.