Surveying 'slides': Clinical perception and clinical judgment in the construction of a genetic diagnosis

Shaw, Alison, Latimer, Joanna Elizabeth, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160 and Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425 2003. Surveying 'slides': Clinical perception and clinical judgment in the construction of a genetic diagnosis. New Genetics and Society 22 (1) , pp. 3-19. 10.1080/1463677032000069682

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Abstract

The work of clinical geneticists includes the inspection of visible abnormalities and their allocation to clinical categories. Drawing on observations of departmental clinical meetings in a medical genetics service, we describe how diagnostic work is accomplished through the practical observation and reasoning of clinical professionals. We suggest that, while the use of molecular tests is increasing the diagnostic repertoire in various ways, clinical perception and clinical judgment govern the adjudication and use of such tests in diagnostic work.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Social Sciences (Includes Criminology and Education) Healthcare Sciences
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RT Nursing
Publisher:	Taylor and Francis
ISSN:	1463-6778
Last Modified:	18 Oct 2022 12:42
URI:	https://orca.cardiff.ac.uk/id/eprint/10964

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