Paper short abstract:

Incorporating technological advancements into UK clinical genetics services has increased the potential for discovery of sequence variants of unknown or uncertain significance. These clinical uncertainties are discussed and interpreted in practices of shared decision making between professionals.

Paper long abstract:

As technological advancements have shifted genetics into 'Next Generation' practices, integration into clinical genetics services has received strong governmental support but limited resources. Incorporation of these technological 'solutions' has the potential to create more complexity and uncertainty when genetic sequence variants are found that have not yet been classified as either benign or pathogenic, but as variants of unknown or uncertain significance (VUS). Discussion of this clinically uncertain information and the decision-making processes surrounding it, challenges those involved to disentangle the concept of uncertainty from that of risk. How these decision-making processes are enacted by professionals in the creation, review and interpretation of these clinical uncertainties can be observed during the various multifaceted, and often multidisciplinary, team meetings.

This presentation draws on the preliminary results of an ethnographic study of professional decision making around uncertainty in clinical genetics in the UK NHS.