Before return of results: The role of motivation in expected outcomes from genomic sequencing

Next generation genomic sequencing is identified as an emerging public health tool. Yet, evidence suggests that its clinical utility can be limited, in part, by recipients' misperceptions of their sequencing results. Theories on information processing suggest that such misperceptions may result from biases created by motivations and expectations for sequencing results. In a sample of adults (N=27) and parents of children (N=22) affected with disorders likely to have a genetic etiology but for which there is no definitive diagnosis, we investigated links between patients' self-reported motivations to pursue whole exome sequencing (WES) and their projected and desired WES results prior to receiving results because such links may shape perceptions of actual results. Participant motivations for pursuing WES were assessed by an open-ended question prior to return of results; nine unique themes were identified (e.g., getting a diagnosis, finding treatment options, family planning). Of the nine themes investigated as predictors of projected and desired WES results, findings from bivariate logistic regression analyses indicated that patients who were motivated to “plan for the future” were more likely to project that their genetic variant would not explain their condition (B=2.833, p = 0.048). Patients who were motivated to elucidate “treatment” were marginally more likely to desire that their genetic variant would explain their condition (B=2.178, p = 0.063). These preliminary findings suggest that motivations to undergo WES may shape expectations for sequencing outcomes. Understanding such links could direct the communication of WES results in ways that reduce misperceptions and optimize health care decisions.