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

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.

Automated summary

The number of people accessing their own polygenic risk scores (PRSs) online is increasing rapidly. However, little is known about the motivations behind this behavior, the emotional reactions to the information, and the subsequent actions taken. Through qualitative interviews with users of Impute.me, researchers found that dissatisfaction with healthcare was a key motivator for seeking PRS information. Participants described being dismissed by healthcare providers and having medical distrust, leading them to advocate for their own health and seek PRSs. These scores were often empowering, but could also cause distress if they didn't align with participants' expectations or family histories. Behavioral changes made in response to PRS results included dietary modifications, changes in supplementation, and talk-based therapy.