| Autor: |
Costa A; Wellcome Connecting Science, Engagement and Society, Wellcome Genome Campus, Hinxton, UK.; Kavli Centre for Ethics, Science and the Public, Faculty of Education, University of Cambridge, Cambridge, UK. |
| Jazyk: |
angličtina |
| Zdroj: |
Medical anthropology [Med Anthropol] 2024 Oct 02; Vol. 43 (7), pp. 655-668. Date of Electronic Publication: 2024 Nov 11. |
| DOI: |
10.1080/01459740.2024.2420117 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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