Abstract
Growing discussion on advancing genetic technologies, including whole exome sequencing (WES) and whole genome sequencing (WGS), has raised concerns regarding the types of genetic information that they can yield. A major area of concern regards incidental findings (IFs), or results that do not directly relate to the primary indication for genetic testing but could be revealed. IFs became a topic of discussion upon the release of the American College of Medical Genetics (ACMG) guidelines that recommended that significant and actionable IFs be reported to patients. Literature to determine whether patients consenting to WES or WGS wish to receive all of the results or only a subset of them has been sparse. We performed a review of research charts including consent forms that allowed participants to choose the types of results they wished to receive from the study in which they were participating. To supplement the review of these records, we sent an online survey to the same group of research participants. We found that 88% of participants requested all of their genetic information including IFs, while 12% did not. This 12% included both participants who chose only to receive information that could explain the cause of the condition for which they enrolled in the study as well as participants who declined all results. Some would argue that an individual’s autonomy might be infringed upon if they are not provided with the choice to opt out of certain types of findings when taking advantage of evolving genetic testing options. Thus, our findings suggest that practices and policies related to WES or WGS should consider individuals who may not wish to know all of their possible results.