Preferences for results delivery from exome sequencing/genome sequencing
Wright, M. F., Lewis, K. L., Fisher, T. C., Hooker, G. W., Emanuel, T. E., Biesecker, L. G., & Biesecker, B. B. (2014). Preferences for results delivery from exome sequencing/genome sequencing. Genetics in Medicine, 16(6), 442-7. https://doi.org/10.1038/gim.2013.170
PURPOSE: The aim of this study was to explore the implications of sequencing information and stated preferences for return of results among research participants.
METHODS: Six focus groups were held with 39 ClinSeq participants. The groups included participants who had received results, those who had not, those affected with cardiovascular disease, and healthy adults. Audio recordings of the sessions were transcribed and coded and analyzed for themes.
RESULTS: All participants expressed interest in receiving results that are medically actionable, nonactionable, carrier, and less so variants that cannot be interpreted. Most participants preferred to receive results in person, although several endorsed use of Internet-based resources that they could return to. Participants identified benefits for health management along with satisfying curiosity, making scientific contributions, and partnering in research. Value was seen in gaining control over health risks. Concerns were distress and/or fear that may result. Some participants were opposed to or ambivalent about learning certain types of results, particularly those having to do with diseases that were incurable or that might have implications for the health of their children.
CONCLUSION: There was relative enthusiasm about the value of learning sequencing information, yet it was tempered by concern about negative feeling responses and aversion to learning about incurable conditions.