ELSIcon2022 Paper: Resisting an old vice, or how polygenic risk information can do the most good

ELSIcon2022 • Paper • May 27, 2022

Jackson Ennis, Richard Sharp, Joel Pacyna

Once upon a time, polygenic risk information was mostly a proprietary feature of direct-to-consumer genetic testing. Today, however, polygenic risk for common, chronic conditions is receiving substantial attention by the genomic research community. Then, as now, there was a belief that individuals would find polygenic test results to be interesting and informative. Today, unlike in the past, there is great hope that introducing polygenic risk information into patient care will promote earlier detection of risk for common, adult-onset conditions and will lead to early initiation of preventative therapies. We argue that such hopes may be a return to an old vice – an unfounded hope that genetic information will be especially persuasive in motivating patients to take actions to mitigate known health risks. We present data from 20 patient interviews regarding their views about the value of polygenic information for common, chronic conditions. Consistent with the broader literature on disease prevention and risk perception, patients expressed hesitancy about the actionability of disease risks identified through polygenic risk evaluation. Furthermore, patients expressed concerns about how polygenic risk information might complicate, rather than improve, their future healthcare. We consider the potential clinical implications of our data and suggest that the value of polygenic risk information will only be realized insofar as we are able to pair it with evidence-based behavior change interventions.