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Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Researchers at the University of British Columbia and the New York-based company Nucleus Genomics consider individuals' experiences with polygenic risk scores (PRS) obtained by submitting genetic profiles to a third party, direct-to-consumer (DTC) site for a study in the European Journal of Human Genetics. Using qualitative interview and interpretive description approaches, the team assessed participants' reasons for pursuing DTC PRS testing, as well as their responses to the results they received. Based on data for 11 participants, the authors suggest individuals were generally satisfied with PRS testing, which they tended to pursue to address questions that remained after standard healthcare experiences. "Our findings suggest that the overall experience with receiving PRSs in a DTC setting is largely positive," the authors write. "Many participants reported feeling validated by their results, particularly when their PRS results aligned with their personal or family history."