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

INTRODUCTION: As 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. MATERIALS AND METHODS: Data were collected from high SES 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. RESULTS: Approximately 80% of participants demonstrated complete or partially accurate recall of their results and reported positive or neutral reactions to their result and about 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. CONCLUSION: Results suggest that high SES participants understand reinterpretations conferring a neutral change or a change from carrier to non carrier status. Participants' responses to changes in carrier results for a low-risk condition indicated minimal adverse effects.