Adult patient experiences with uninformative whole exome sequencing results

The purpose of this research project is to explore and understand how adult patients perceive and process (e.g., coping strategies) receiving uninformative whole exome sequencing (WES) results. Findings from this study could identify actionable steps to enhance positive reactions and mitigate negative patient reactions. Many of the studies done exploring the ways that patients perceive and process uninformative WES have been performed on minors, and often these minors were not interviewed or asked to share their perspectives on the process of WES; instead, their parents’ or legal guardians’ perspectives were sought. Understanding a parent’s or legal guardian's perspective is important and can provide insight into how families perceive and process uninformative WES results. This study aims to better understand the personal experience of receiving uninformative WES results by specifically sampling adults who have had uninformative WES results. It is important to understand the personalized patient experience, as the results of the literature surrounding this topic are contradictory. Studies report seemingly contradictory themes of optimism and disappointment surrounding the results of the uninformative results. The contradictory themes arise when comparing studies on the topic and at times within the same study. Most individuals receiving WES have already experienced or are currently experiencing a diagnostic odyssey leading up to WES. These contradictory themes in the context of a diagnostic odyssey are perplexing and warrant exploration. The student investigator expects that the outcomes of this study will provide a detailed account of the perception and the coping strategies used by adults who have received uninformative WES results. We also aim to identify what resources and support systems patients utilized to cope with the disclosure of the results and to understand the patients’ perceptions of the results disclosure. Another expected outcome of this study is to use the results of this study to identify and address any actionable gaps in care for adult patients who have received uninformative WES results.