Lynch Syndrome Patients’ Views of and Preferences for Return of Results Following Whole Exome Sequencing
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Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual’s genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants’ experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results.
KeywordsWhole exome sequencing Patient preferences Return of results Genetic counseling practice
This study was completed in partial fulfillment of the requirements for the first author’s Master of Science degree from the California State University, Stanislaus (CSUS) Genetic Counseling Program. Thanks go to the program as well as the CSUS Biology Research Committee for funding. Thank you to Ambry Genetics for providing WES and bioinformatics analysis for the patients included in this study. Thank you to Illumina for donating the reagents required for WES. The investigators would like to thank the individuals who helped with the recruitment of subjects: Margo Thelander, Peggy Conrad, Kate Loranger, and Megan Myers. Special thanks to the 19 individuals who so openly and willingly shared their thoughts and opinions with us. Your comments are appreciated.
Disclosure of Conflict
The authors have no conflicts of interest to disclose.
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