Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals

Genet Med. 2022 Nov;24(11):2380-2388. doi: 10.1016/j.gim.2022.08.001. Epub 2022 Sep 6.

Abstract

Purpose: Health care professionals are expected to take on an active role in the implementation of risk-based cancer prevention strategies. This study aimed to explore health care professionals' (1) self-reported familiarity with the concept of polygenic risk score (PRS), (2) perceived level of knowledge regarding risk-stratified breast cancer (BC) screening, and (3) preferences for continuing professional development.

Methods: A cross-sectional survey was conducted using a bilingual-English/French-online questionnaire disseminated by health care professional associations across Canada between November 2020 and May 2021.

Results: A total of 593 professionals completed more than 2 items and 453 responded to all questions. A total of 432 (94%) participants were female, 103 (22%) were physicians, and 323 (70%) were nurses. Participants reported to be unfamiliar with (20%), very unfamiliar (32%) with, or did not know (41%) the concept of PRS. Most participants reported not having enough knowledge about risk-stratified BC screening (61%) and that they would require more training (77%). Online courses and webinar conferences were the preferred continuing professional development modalities.

Conclusion: The study indicates that health care professionals are currently not familiar with the concept of PRS or a risk-stratified approach for BC screening. Online information and training seem to be an essential knowledge transfer modality.

Keywords: Genomic innovations; Nurses; Physicians; Precision medicine; Professional education.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Cross-Sectional Studies
  • Early Detection of Cancer
  • Female
  • Health Knowledge, Attitudes, Practice
  • Health Personnel / education
  • Humans
  • Risk Factors
  • Surveys and Questionnaires