Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy

Parsons, Evelyn Patricia and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy. Journal of Medical Genetics 30 (7) , pp. 562-566. 10.1136/jmg.30.7.562

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Abstract

This paper reports a study of 48 women (16 mothers and 32 daughters representing 28 families) who had lived with Duchenne muscular dystrophy (DMD) in their family. It looks at the way the women talked about their carrier risks during the course of an unstructured interview. It points to a significant difference between lay and health professionals' perspectives, in particular the thresholds they used to distinguish between high and low risk. A number of women, when quoting their risk in a mathematical form, confused their reproductive risks with their carrier risk, another indication of differential perceptions between the women and health professionals. There was evidence that several of the women did not retain their risk in a mathematical form but had translated it into a descriptive category which resolved their risk into greater certainty.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ
ISSN:	1468-6244
Last Modified:	22 Jul 2023 01:15
URI:	https://orca.cardiff.ac.uk/id/eprint/60556

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