Center for Genomics and Society Seminar: The Social Life of the Uncertain Diagnostic Result in a Clinical Exome Sequencing Study

This presentation is based on an ethnographic study of NCGENES that examines “the social life” of an exome sequencing (ES) result. Through observations and interviews, we have traced how ES findings become “meaningful results” as they are produced through the bioinformatics pipeline, interpreted by the molecular sign-out committee, communicated by clinicians and understood by patient/participants. The main focus will be on one type of result: the uncertain or “possibly positive” diagnostic result. After a brief sociological look at the different aspects and layers of uncertainty in this context, Debra Skinner, PhD, will present an analysis of how clinicians communicate uncertainty and how patients/participants understand and respond to learning uncertain results.