Vailionis, Eva Maria. Patient perspectives and reactions to unanticipated positive test results via population genomic screening efforts: a qualitative study. Retrieved from https://doi.org/doi:10.7282/t3-rpvw-5w84
DescriptionThe use of genomic screening initiatives to assess risk for genetic disease in the general population is increasing. However, little is known about the psychological reactions of patients who receive clinically-significant genetic testing results when their personal and family histories do not align with their molecular diagnosis. This qualitative study aims to analyze the reactions of participants who tested positive for pathogenic/likely pathogenic genetic variants in two conditions through Geisinger’s MyCode Genomic Screening and Counseling (GSC) program. The individuals were screened for personal and family histories that appeared inconsistent with their genetic result to assess perspectives when these results are hypothetically unanticipated. Thirteen individuals were interviewed and took part in the study. Interviews were conducted via phone using a semi-structured interview guide, and transcripts were analyzed using grounded, structural coding for themes that emerged through Interpretative Phenomenological Analysis (IPA). Results indicate that, in general, unanticipated genetic results are not accompanied by persistent negative emotions in this cohort. Every participant reported at least some positive emotion, and all recognized the prospective benefits of population genomic screening in varying ways. There were some exceptions, however, and these perspectives may aid in bettering GSC programs so participants feel better prepared to consent to testing and receive results.