EGENIS seminar: "Tactical reporting, actionability and uncertainty in the genomic clinic ", Prof Adam Hedgecoe (Cardiff University)

Drawing on ethnographic observations in over 290 clinical team meetings and covering a range of conditions from inherited heart disease, cancer, developmental delays and dysmorphia, this paper seeks to explore professional decision making around clinical genomic sequencing. With a specific focus on decisions about a particular kind of ambiguous result – called Variants of Uncertain Significance (VUS) – this paper examines the role of the perceived ‘actionability’ of specific genomic results. The key insight centres on the way in which clinicians’ beliefs about how parents will react to a result feed back into decisions about the status of such ambiguous results, builds on previous STS work around actionability from Nicole Nelson, Alberto Cambrosio and Stefan Timmermans.