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

• DOI: 10.1007/s10897-014-9687-6
• Publication Date: 2014-01-21T03:54:17Z
• Authors: Kelly Hitch; Galen Joseph; Jenna Guiltinan; Jessica Kianmahd; Janey Youngblom; Amie Blanco
• Keywords: Geneticist; Lynch Syndrome

Whole exome sequencing (WES) uses next generation technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due the vast amount of and incidental findings that can be generated from this technology, patient preferences must investigated help clinicians consent return results patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative syndrome genetic through traditional molecular testing methods participated semi-structured interviews after WES before explore their views for results. Analyses interview found participants believed benefits receiving possible outweighed undesirable effects. The majority conveyed relative coping a cancer diagnosis, would manageable. Importantly, participants' experience influenced notions determinism, tolerance uncertain results, family communication plans. Participants prefer receive person counselor or medical geneticist so expert could explain meaning implications potentially large quantity range complicated These underscore need study various populations regard clinical use order effectively empathetically communicate new