Risk-stratified breast cancer screening incorporating a polygenic risk score: a survey of UK GPs’ knowledge and attitudes

Abstract

BackgroundA 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 non-genetic 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, GPs’ views remain largely unknown.AimTo explore GPs’ knowledge of PRS and risk-stratified screening, attitudes towards risk-stratified screening, and preferences for continuing professional development.MethodCross-sectional online survey of UK GPs, July–August 2022, distributed by the Royal College of General Practitioners and via other mailing lists and social media.ResultsIn 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. Eighty-one percent felt positive about the potential impact of risk-stratified screening towards patients; 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.ConclusionThe results suggest limited knowledge of PRS and risk-stratified screening among 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.