“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

摘要: PurposeWe sought to explore patient-reported utility of all types of cancer results from genomic sequencing (GS).MethodsQualitative study, using semi-structured interviews with patients who underwent GS within a trial. Thematic analysis employing constant comparison was used. Two coders coded transcripts, with use of a third coder to resolve conflicts.Results25 patients participated: female (22), >50 years (18), European (12), Ashkenazi Jewish (5), Middle Eastern (3), or other ethnicity (5), with breast cancer history (20).Patients’ perceptions of the utility of cancer GS results hinged on whether they triggered clinical action. For example, when patients were enrolled into high-risk breast cancer surveillance programs for low/moderate risk breast cancer genes, they perceived the results to be very “useful” and of moderate-high utility. In contrast, patients receiving low/moderate risk or primary variants of uncertain …