Knowledge, Attitudes and Demand Toward Cardiovascular Polygenic Risk Testing in Clinical Practice: Cross-Sectional Survey of Patients

Abstract

ABSTRACTBackgroundThe goal of this study was to assess patients’ prior exposure and current level of knowledge of polygenic risk scores (PRSs). We also explored reactions to receiving a high-risk or low-risk score, and gauged the overall attitudes and demand patients have with regards to PRSs.MethodsWe developed an online investigator-designed survey based on existing validated tools and previously designed surveys on genetic testing. There were two versions of the survey, one including a hypothetical high-risk PRS and one with a low-risk PRS. We administered the survey among patients attending a specialized cardiovascular prevention clinic.ResultsA total of 226 participants responded to the survey. The study population was predominantly high-income earning, educated, and of European descent. 177 patients (79%) had never read or heard about polygenic testing. 209 patients (93%) had never discussed polygenic testing with their health care professional (HCP). 208 patients (93%) had never received polygenic testing.The average score on the knowledge quiz was 2.47/10 [95% C.I. (2.17, 2.78)]. Participants that received a high-risk survey scored 20.52/35 [95% C.I. (16.14, 24.9)] with regards to negative emotions while low-risk survey participants scored 17.96/35 [95% C.I. (13.98, 21.94)] (p<0.001). Participants that received a high-risk survey scored 5.78/10 [95% C.I. (3.77, 7.79)] with regards to uncertainty and low-risk survey participants scored 4.34/10 [95% C.I. (2.50, 6.18)] (p<0.001). Participants that received a high-risk survey scored 12.42/15 [95% C.I. (10.43, 14.41)] for demand and low-risk survey participants scored 12.22/15 [95% C.I. (9.66, 14.78)] (p=0.549).ConclusionsPatients have limited prior exposure and knowledge of PRSs. Compared to receiving a low-risk score, participants receiving a high-risk score have more negative emotions and feelings of uncertainty. Despite the lack of knowledge, and the high rate of negative emotions and uncertainty, demand for PRSs in cardiology practice is high and expected to increase.