Risk-Stratified Breast Cancer Screening Incorporating a Polygenic Risk Score: A Survey of UK General Practitioners' Knowledge and Attitudes

Genes (Basel). 2023 Mar 16;14(3):732. doi: 10.3390/genes14030732.

Abstract

A polygenic risk score (PRS) quantifies the aggregated effects of common genetic variants in an individual. A 'personalised breast cancer risk assessment' combines PRS with other genetic and nongenetic risk factors to offer risk-stratified screening and interventions. Large-scale studies are evaluating the clinical utility and feasibility of implementing risk-stratified screening; however, General Practitioners' (GPs) views remain largely unknown. This study aimed to explore GPs': (i) knowledge of risk-stratified screening; (ii) attitudes towards risk-stratified screening; and (iii) preferences for continuing professional development. A cross-sectional online survey of UK GPs was conducted between July-August 2022. The survey was distributed by the Royal College of General Practitioners and via other mailing lists and social media. In total, 109 GPs completed the survey; 49% were not familiar with the concept of PRS. Regarding risk-stratified screening pathways, 75% agreed with earlier and more frequent screening for women at high risk, 43% neither agreed nor disagreed with later and less screening for women at lower-than-average risk, and 55% disagreed with completely removing screening for women at much lower risk. In total, 81% felt positive about the potential impact of risk-stratified screening towards patients and 62% felt positive about the potential impact on their practice. GPs selected training of healthcare professionals as the priority for future risk-stratified screening implementation, preferring online formats for learning. The results suggest limited knowledge of PRS and risk-stratified screening amongst GPs. Training-preferably using online learning formats-was identified as the top priority for future implementation. GPs felt positive about the potential impact of risk-stratified screening; however, there was hesitance and disagreement towards a low-risk screening pathway.

Keywords: GP survey; breast cancer; polygenic risk score; risk-stratified screening.

MeSH terms

  • Attitude of Health Personnel
  • Breast Neoplasms* / diagnosis
  • Early Detection of Cancer
  • Female
  • General Practitioners
  • Humans
  • Risk Factors
  • Surveys and Questionnaires
  • United Kingdom

Grants and funding

This research received no external funding.