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Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey

European Journal of Human Genetics volume 31, pages 1309–1316 (2023)Cite this article

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Abstract

Polygenic risk scores (PRS) may improve risk-stratification in preventive care. Their clinical implementation will depend on primary care physicians’ (PCPs) uptake. We surveyed PCPs in a national physician database about the perceived clinical utility, benefits, and barriers to the use of PRS in preventive care. Among 367 respondents (participation rate 96.3%), mean (SD) age was 54.9 (12.9) years, 137 (37.3%) were female, and mean (SD) time since medical school graduation was 27.2 (13.3) years. Respondents reported greater perceived utility for more clinical action (e.g., earlier or more intensive screening, preventive medications, or lifestyle modification) for patients with high-risk PRS than for delayed or discontinued prevention actions for low-risk patients (p < 0.001). Respondents most often chose out-of-pocket costs (48%), lack of clinical guidelines (24%), and insurance discrimination concerns (22%) as extreme barriers. Latent class analysis identified 3 subclasses of respondents. Skeptics (n = 83, 22.6%) endorsed less agreement with individual clinical utilities, saw patient anxiety and insurance discrimination as significant barriers, and agreed less often that PRS could help patients make better health decisions. Learners (n = 134, 36.5%) and enthusiasts (n = 150, 40.9%) expressed similar levels of agreement that PRS had utility for preventive actions and that PRS could be useful for patient decision-making. Compared with enthusiasts, however, learners perceived greater barriers to the clinical use of PRS. Overall results suggest that PCPs generally endorse using PRS to guide medical decision-making about preventive care, and barriers identified suggest interventions to address their needs and concerns.

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Fig. 1: Perceived utility of PRS for preventive actions.
Fig. 2: Perceived benefits of PRS.
Fig. 3: Perceived barriers to PRS implementation.
Fig. 4: Observed survey item endorsements by predicted class membership.

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Data availability

The dataset supporting the current study has not been deposited in a public repository but is available from the corresponding author on reasonable request.

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Funding

This work was funded by National Institutes of Health / National Human Genome Research Institute grant R35 HG010706.

Author information

Authors and Affiliations

  1. Harvard Medical School, Boston, MA, USA

    Jason L. Vassy, Benjamin J. Kerman, Elizabeth J. Harris & Katharine MacIsaac

  2. Veterans Affairs Boston Healthcare System, Boston, MA, USA

    Jason L. Vassy, Elizabeth J. Harris, Ashley A. Antwi, Katharine MacIsaac, Thomas Yi & Charles A. Brunette

  3. Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women’s Hospital, Boston, MA, USA

    Jason L. Vassy & Benjamin J. Kerman

  4. Precision Population Health, Ariadne Labs, Boston, MA, USA

    Jason L. Vassy

  5. Norton Children’s Research Institute, Affiliated with the University of Louisville School of Medicine, Louisville, KY, USA

    Amy A. Lemke

  6. UMass Chan Medical School, Department of Population and Quantitative Health Sciences, Worcester, MA, USA

    Marla L. Clayman

  7. Edith Nourse Rogers Memorial Veterans’ Hospital, Bedford, MA, USA

    Marla L. Clayman

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  1. Jason L. Vassy
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Contributions

CRediT category: Conceptualization: JLV, BJK; Data curation: EJH, KI, TY; Formal analysis: CAB; Funding acquisition: JLV, BJK; Investigation: JLV, BJK, EJH; Methodology: JLV, BJK, EJH, AAL, MLC, JLV; Project administration: EJH, AAA; Software: EJH, TY, CAB; Supervision: JLV; Validation: EJH, CAB; Visualization: JLV, BJK, EJH, KI, TY, CAB; Writing - original draft: JLV, CAB; Writing - review & editing: JLV, BJK, EJH, AAL, MLC, AAA, KI, TY, CAB.

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Correspondence to Jason L. Vassy.

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Competing interests

The authors declare no conflicts of interest. JLV, MLC, AAA, TY, and CAB are employees of the U.S. Department of Veterans Affairs (VA). The views expressed in this manuscript do not represent those of the U.S. government or VA.

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The study was approved by the Harvard Longwood Campus Institutional Review Board (Protocol #20-2098). All participants consented to participation in the research.

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Vassy, J.L., Kerman, B.J., Harris, E.J. et al. Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey. Eur J Hum Genet 31, 1309–1316 (2023). https://doi.org/10.1038/s41431-023-01318-8

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