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Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients

European Journal of Human Genetics volume 33, pages 531–537 (2025)Cite this article

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Abstract

The 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. We developed an online investigator-designed survey based on existing validated tools in genetic testing. There were two versions of the survey, one including a hypothetical high-risk PRS and one with a low-risk PRS. This survey was distributed to patients attending a cardiovascular clinic for primary or secondary prevention. A total of 226 participants responded to the survey. 177 patients (79%) had not read nor 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 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). Patients 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.

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Data availability

The datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Department of Medicine, University of British Columbia, Vancouver, Canada

    Shanjot Brar, Jared Townsend, Joban Phulka & Laura Halperin

  2. Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada

    Janet Liew, Jeremy Parker, Liam R. Brunham & Zachary Laksman

  3. Department of Medical Genetics, Centre for Heart Lung Innovation, Vancouver, Canada

    Liam R. Brunham

Authors
  1. Shanjot Brar
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  2. Jared Townsend
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  8. Zachary Laksman
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Contributions

SB designed the project, acquired/analyzed data and drafted the manuscript; JT acquired data and provided manuscript revisions; JP designed the project, analyzed data, and helped draft the manuscript; LH designed the project and provided manuscript revisions; JL designed the project and provided manuscript revisions; JP designed the project and provided manuscript revisions; LB designed the project, provided mentorship and provided manuscript revisions; ZL designed the project, analyzed data, provided mentorship and provided manuscript revisions.

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Correspondence to Shanjot Brar or Zachary Laksman.

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The authors declare no competing interests.

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This project was approved by the UBC Research Ethics Board, REB# H22-02087.

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Brar, S., Townsend, J., Phulka, J. et al. Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients. Eur J Hum Genet 33, 531–537 (2025). https://doi.org/10.1038/s41431-024-01762-0

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