Journal of Genetic Counseling

, Volume 23, Issue 4, pp 539–551

Lynch Syndrome Patients’ Views of and Preferences for Return of Results Following Whole Exome Sequencing

Authors

    • California State University, Stanislaus
  • Galen Joseph
    • Univeristy of California, San Francisco
  • Jenna Guiltinan
    • California State University, Stanislaus
    • Ambry Genetics
  • Jessica Kianmahd
    • University of California, Los Angeles
  • Janey Youngblom
    • California State University, Stanislaus
  • Amie Blanco
    • Univeristy of California, San Francisco
Next Generation Genetic Counseling

DOI: 10.1007/s10897-014-9687-6

Cite this article as:
Hitch, K., Joseph, G., Guiltinan, J. et al. J Genet Counsel (2014) 23: 539. doi:10.1007/s10897-014-9687-6

Abstract

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.

Keywords

Whole exome sequencingPatient preferencesReturn of resultsGenetic counseling practice

Copyright information

© National Society of Genetic Counselors, Inc. 2014