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

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


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Communication
  • Data Accuracy*
  • Exome
  • Female
  • Genetic Association Studies / methods
  • Genetic Association Studies / standards*
  • Genetic Counseling
  • Genetic Testing / standards
  • Humans
  • Male
  • Middle Aged
  • Patient Participation
  • Referral and Consultation
  • Uncertainty*
  • Whole Exome Sequencing
  • Young Adult