The management of diagnostic uncertainty and decision-making in genetics case conferences

Abstract

In this paper we examine one type of intraprofessional collaborative activity, namely case conferences in a specialist genetics clinic. Our specific focus is on how clinical geneticists manage decision-making through team talk in the event of diagnostic uncertainty which is mainly attributable to limitations in the current state of genomic knowledge, ‘uncertain significances’ associated with genetic test results, and a lack of information/ evidence pertaining to cases under discussion. The case conference then becomes a means to minimise the uncertainty and arrive at decisions that optimise the significance of the results in terms of clients’ life trajectories. Adopting theme-oriented activity analysis, we examine video-recorded data from five case conferences in Hong Kong. Beginning with a prototypical structural mapping of the case conference activity type, our analysis focuses on what we call ‘uncertain cases’. Our findings highlight three discourse types constitutive of team talk: pedagogic talk, diagnostic talk and decisional talk. In paying particular attention to how uncertainty is formulated and negotiated, we suggest that access to and assessment of different kinds of evidence as well as the activity-specific expert role-positions of the participants are crucial with regard to establishing a correct diagnosis and/or striving towards a minimisation of current uncertainties.