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

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.