We sought to explore individuals’ motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a cross-sectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs, and two validated scales regarding reactions to results—the Impact of Event Scale Revised (IES-R) and the Feelings About genomiC Testing Results (FACToR). Independent samples T-tests and ANOVA were used to explore associations between the variables. 227 individuals participated in the study. The most frequently reported motivation was general curiosity (98.2%). Only 25.6% of participants correctly answered all questions assessing understanding/interpretation of PRSs. Over half of participants (60.8%) experienced a negative reaction (upset, anxious, and/or sad on FACToR scale) after receiving their PRSs and 5.3% scored over the threshold for potential post-traumatic stress disorder on the IES-R. Lower understanding about PRS was associated with experiencing a negative psychological reaction (P values <0.001). Higher quality pre-test information, particularly to improve understanding, and manage expectations for PRS may be useful in limiting negative psychological reactions.
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This study was funded by the University of British Columbia and was conducted to fulfill a degree requirement as part of training. JA was supported by the Canada Research Chairs program and the BC Mental Health and Substance Use Services.
All procedures followed were in accordance with the ethical standards of the University of British Columbia. Informed consent was obtained from all individual participants included in the study. The study was approved by the University of British Columbia’s Research Ethics Board (H19‐00427).
LP, KB, and JA declare no conflict of interest. Dr. Lasse Folkersen is the founder of Impute.me but does not make a profit from this service. The voluntary donations received by Impute.me go to a registered company, from where it is used to pay for server costs. The company is a Danish-law IVS company with ID 37918806, financially audited under Danish tax law.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Peck, L., Borle, K., Folkersen, L. et al. Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00929-3