"Possibly Positive or Certainly Uncertain?": Participants' Responses to Uncertain Diagnostic Results From Exome Sequencing

Skinner, D., Roche, M. I., Weck, K. E., Raspberry, K. A., Foreman, A. K. M., Strande, N. T., Berg, J. S., Evans, J. P., & Henderson, G. E.
2018

Purpose: "Clinical 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..."

Available here: Genetics in Medicine
Citation: Skinner, D., Roche, M. I., Weck, K. E., Raspberry, K. A., Foreman, A. K. M., Strande, N. T., . . . Henderson, G. E. (2018). "Possibly positive or certainly uncertain?": Participants' responses to uncertain diagnostic results from exome sequencing. Genetics in Medicine, 20, 313-319.
DOI: 10.1038/gim.2017.135