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Genet Med. 2018 Mar;20(3):313-319. doi: 10.1038/gim.2017.135. Epub 2017 Oct 2.

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

Author information

1
FPG Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
2
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
3
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
4
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
5
Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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 that were congruent with clinical geneticists' communications. They followed recommendations for further consultation, although family testing to resolve uncertainty was not always done. Participants were prepared for learning an uncertain result and grasped the key concept that it should not be used to guide health-care or other decisions. They did not express regret for having learned the uncertain result; most regarded it as potentially valuable in the future.ConclusionThis study suggests that uncertain diagnostic results from genome sequencing can be relayed to patients in ways they can understand and consistent with providers' interpretations, without causing undue harm.

PMID:
29593351
PMCID:
PMC5880300
DOI:
10.1038/gim.2017.135
[Indexed for MEDLINE]
Free PMC Article

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