Possibly positive or certainly uncertain?: Participants’ responses to uncertain diagnostic results from exome sequencing

摘要

PurposeClinical genome sequencing (GS) produces uncertain diagnostic results, raising concerns about how to communicate the inherent complexities in ways that reduce potential misunderstandings and harms. 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.