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A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website

Abstract

The number of people accessing their own polygenic risk scores (PRSs) online is rapidly increasing, yet little is known about why people are doing this, how they react to the information, and what they do with it. We conducted a qualitative interview-based study with people who pursued PRSs through Impute.me, to explore their motivations for seeking PRS information, their emotional reactions, and actions taken in response to their results. Using interpretive description, we developed a theoretical model describing the experience of receiving PRSs in a direct-to-consumer (DTC) context. Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed and experiencing medical distrust, which drove them to self-advocate for their health, which ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants but could be distressing when PRS information did not align with participants’ perceptions of their personal or family histories. Behavioural changes made in response to PRS results included dietary modifications, changes in vitamin supplementation and talk-based therapy. Our data provides the first qualitative insight into how people’s lived experience influence their interactions with DTC PRSs.

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Fig. 1: A visual representation of the process of obtaining polygenic risk scores (PRSs), beginning with the motivations for pursuing PRS information, how participants reacted to their results, and what they did with their results.

Data availability

Original qualitative data will not be made publicly available to protect the privacy of research participants.

Code availability

Data analyzed through the study is available in the published manuscript. Raw and coded data will not be made available to protect the privacy of research participants.

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Acknowledgements

The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded and ancestral territory we have the privilege of working. The authors are grateful for the many contributions of all members of the Translational Psychiatric Genetics Group.

Funding

This research was supported by research grants from the National Society of Genetic Counselors Precision Medicine Special Interest Group and 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 BC Mental Health and Substance Use Services. The funders had no role in review or approval of the manuscript.

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Authors and Affiliations

Authors

Contributions

All authors contributed to the design and execution of the study, and the drafting, revision, and final approval of the manuscript. KL, KB, and JA contributed to the analysis and interpretation of the data.

Corresponding author

Correspondence to Jehannine Austin.

Ethics declarations

Competing interests

KL and KB declare no conflicts of interest. Dr. Lasse Folkersen founded Impute.me and Dr. Jehannine Austin provided consultation for the website, though neither made a profit from this service. Dr. Austin also provides consultation for 23andme. The voluntary donations received by Impute.me go to a registered company, from where it is used to pay for server costs. Impute.me was a Danish-law IVS company with ID 37918806, financially audited under Danish tax law.

Ethics approval

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 (H21-01616).

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Lowes, K., Borle, K., Folkersen, L. et al. A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01203-w

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