Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification

摘要: Abstract We report on a qualitative analysis of interviews with 14 genetic counsellors in Ontario, Canada about the implications developments molecular knowledge for disease definition and classification. Genetic express restrained set hopes expectations utility diagnoses. They identify several limitations faced by available tests, that constrain significance information identification clinical management. Yet they also emphasize fundamental nature information, its decisive role specifying causation, The means that, some cases, tests foster change categories. Diseases are redefined “ruling in” atypical cases demonstrating broader spectrum effects, or out” typical classic presentations better assigned to other (or no) causes. These redefinitions can be profoundly consequential, producing kinds uncertainty: What do we call this state being? How manage it clinically? And, what social entitlements individuals state? Though limited today, such complex effects expected increase, alongside growing diagnostic power genetics.