Introduction: Reclassification of variants of uncertain significance (VUS) occurs frequently. Return of VUS reclassification often requires active participation of carriers. They need to appreciate that classification can change over time (either upgraded or downgraded), some may impact medical management, and it may be important to periodically check back for reclassification updates. We have limited knowledge about the extent to which patients understand their responsibility in the reclassification and recontact process.
Methods: We conducted 26 modified cognitive interviews to assess participants' agreement with key concepts related to reclassification and recontact after clarifying them through the cognitive interview. Participants were recruited from a clinical cohort who had received one or more VUS. Thematic analysis of participants’ responses was done to identify overarching themes.
Results: We identified four major themes in participants’ interpretations of statements: 1) the term reclassification was unfamiliar to most VUS carriers and upon providing a definition, preferred alternative words; 2) most knew that it is possible to receive a reclassified result but did not expect to receive one; 3) participants were unanimous that they would not contact their doctors for an update about reclassification but would wait for their doctors to contact them; and 4) individual experiences related to cancer, genetic testing, and/or counseling impacted their responses throughout the interview.
Discussion: The results suggest that models to return reclassified results to patients should calibrate to VUS carriers’ vastly varied levels of understanding of genetic concepts, their part in the reclassification process, and emotional preparedness to discuss genetic concepts.
Authors: Sukh Makhnoon, University of Texas Southwestern Medical Center; Kerri Brown, University of Texas Southwestern Medical Center
