Abstract
The paper presents findings from an ethnography of dysmorphology, a specialism in genetic medicine, to explore genetic counselling as a process through which parents ‘become informed.’ Current professional and policy debate over the use of genetic technology in medicine emphasises the need for informed choice making, and for genetic services that provide parents with what is referred to as ‘non-directive genetic counselling.’ In the paper the process of becoming informed is shown to be very specific and to have its own effects. Specifically, genetics is performed in dysmorphology as a space of ambiguity and uncertainty. In addition, parents are engaged by the clinic as participants in the very processes through which their child, and perhaps their family, are clinically classified. The paper examines the effects of parents’ immersion in this clinical space of deferral to suggest how the need for reproductive choice, and calculation, is predicated upon clinical processes that shift parents between the experience of definition and uncertainty. The paper thus troubles simple stories about autonomous and informed choice, particularly reproductive choice, as icons of contemporary versions of what it is to be fully human.
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Notes
The author gratefully acknowledges all the families, her collaborators—Paul Atkinson, Angus Clarke, Katie Featherstone, Daniela T. Pilz and Maggie Gregory—and the support of the Wellcome Trust (award no. 057181/Z/99), and of the Economic and Social Research Council (award no. R000239863) for their support for the studies on which this paper is based.
Neuronal migration disorder which results in broad, flattened gyri and occasionally is described as incomplete lissencephaly. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy. In some patients there are mutations of chromosome 17 and Xq22 but others will have no specific chromosomal marker. Those with chromosome 17 mutations more frequently have areas of pachygyria in the frontal and temporal regions, whereas those with Xq22 abnormalities often have abnormalities in the frontal lobe. http://www.amershamhealth.com/medcyclopaedia/medical/Volume%20VII/PACHYGYRIA.asp
Human Doublecortin, an x-linked gene located on Xq chromosome, first reported in 1998. Mutations of this gene have been linked with lissencephaly, a brain disorder that results in epilepsy and developmental delay.
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Latimer, J. Becoming In-formed: Genetic Counselling, Ambiguity and Choice. Health Care Anal 15, 13–23 (2007). https://doi.org/10.1007/s10728-006-0035-3
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DOI: https://doi.org/10.1007/s10728-006-0035-3