"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

ABSTRACT: PurposeClinical genome sequencing produces uncertain diagnostic results, raising concerns about how to communicate the method's inherent complexities in ways that reduce potential misunderstandings and harm. This study investigates clinicians' communications and patient/participant responses to uncertain diagnostic results arising from a clinical exome sequencing research study, contributing empirical data to the debate surrounding disclosure of uncertain genomic information.MethodsWe investigated the communication and impact of uncertain diagnostic results using ethnographic observations of result disclosures with 21 adults and 11 parents of child patients, followed by two semistructured interviews with these same participants.ResultsParticipants understood their uncertain results in ways

SUBMITTER: Skinner D 

PROVIDER: S-EPMC5880300 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature