Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

Genet Med. 2018 Mar;20(3):337-345. doi: 10.1038/gim.2017.88. Epub 2017 Jul 27.


PurposeAs genome science advances, people receiving personalized genetic information may receive reinterpretations of pathogenicity. Little is known about responses to adjusted results. We examined how reinterpretations might affect attitudes about genetic testing and intentions to share results with family.MethodsData were collected from high-socioeconomic-status participants (n = 58) in a genome sequencing study. Twenty-nine originally learned they were carriers of Duarte variant galactosemia, based on a variant that was reclassified as benign. Positive testers (n = 19) had a newly identified causative variant and remained carriers. Negative testers (n = 10) learned they were no longer carriers. Twenty-nine controls were carriers for a disease of comparable severity with no reclassification. Participants completed baseline, immediate, and 3-month follow-up surveys.ResultsApproximately 80% of participants demonstrated complete or partially accurate recall of their results and reported positive or neutral reactions to their result and about genetic information more generally. Positive testers reported lower intentions to share the change in their result with family. Controls reported the lowest intentions to learn future results. There were no significant group differences or changes over time in perceived ambiguity or negative emotions.ConclusionThe results suggest that high-socioeconomic-status participants understand reinterpretations conferring a neutral change or a change from carrier to noncarrier status. Participants' responses to changes in carrier results for a low-risk condition indicated minimal adverse effects.

Publication types

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

MeSH terms

  • Case-Control Studies
  • Data Accuracy
  • Emotions
  • Follow-Up Studies
  • Genetic Association Studies* / methods
  • Genetic Association Studies* / standards
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing* / methods
  • Genetic Testing* / standards
  • Genetic Variation*
  • Humans
  • Intention
  • Patient Participation*
  • Perception
  • Surveys and Questionnaires