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

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.

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

“…A further 32 citations were excluded after full text screening. An additional five papers were identified using alternative search methods, resulting in a total of 18 papers eligible for inclusion (Leventhal et al 2013 ; Graves et al 2013 ; Nusbaum et al 2013 ; Conran et al 2021 ; Saya et al 2022 ; Saya et al 2020 ; Butrick et al 2014 ; Kirkegaard et al 2018 ; Fredsoe et al 2020a , 2020b ; Green et al 2022 ; Benafif et al 2022 ; Kerman et al 2023 ; Ayoub et al 2023 ; Archer et al 2020 , 2023 ; Myers et al 2015 ; Weinberg et al 2014 ) (Fig. 1 ).…”

“…Only four high-income countries were represented: eight USA (Leventhal et al 2013 ; Graves et al 2013 ; Nusbaum et al 2013 ; Butrick et al 2014 ; Conran et al 2021 ; Kerman et al 2023 ; Weinberg et al 2014 ; Myers et al 2015 ), five UK (Archer et al 2020 , 2023 ; Ayoub et al 2023 ; Green et al 2022 ; Benafif et al 2022 ), three Denmark (Fredsoe et al 2020a , 2020b ; Kirkegaard et al 2013 ) and two Australia (Saya et al 2020 , 2022 ). The majority of studies used an observational quantitative design (Graves et al 2013 ; Saya et al 2020 ; Fredsoe et al 2020a , 2020b ; Green et al 2022 ; Benafif et al 2022 ; Ayoub et al 2023 ; Kerman et al 2023 ; Conran et al 2021 ; Weinberg et al 2014 ), four used qualitative methods (Archer et al 2020 , 2023 ; Nusbaum et al 2013 ; Kirkegaard et al 2018 ) and four mixed methods (Leventhal et al 2013 ; Saya et al 2022 ; Butrick et al 2014 ; Myers et al 2015 ). Data were collected using demographic questionnaires, national surveys, baseline questionnaires, focus groups and semi-structured interviews.…”

“…Four studies explored primary HCP’s attitudes to PGS for cancer risk assessment (Kerman et al 2023 ; Ayoub et al 2023 ; Archer et al 2020 , 2023 ), Table 11 . All three studies which explored PGS in the context of a personalized BC risk assessment, demonstrated that HCPs attitudes were positive towards the concept but a need for education and training in genomics was highlighted (Archer et al 2020 , 2023 ; Ayoub et al 2023 ) . Ayoub et al reported that nearly half (49%) were not familiar with PGS and 23% reported that GPs were ‘not confident’ in explaining polygenic inheritance.…”

The Doctor Will Talk to You Now: A Discussion on Personalised Breast Cancer Risk in the Clinic

“…It is also important to note that the adoption of PRS as a risk prediction tool in clinical practice is not yet widespread. 27,53,54 There are still challenges to overcome, including ensuring the accuracy and reliability of PRS, addressing ethical and privacy concerns related to genetic data, and establishing clear guidelines for its use. 55…”

Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases

“…Specifically, knowledge of genetics (based on the premise that multiple genetic and environmental factors are involved in disease development), risk communication skills, and an understanding of ethical, legal, and social issues will be required. However, healthcare providers have low confidence in their knowledge of PRSs and risk stratification with regard to complex diseases, such as diabetes and heart disease [25][26][27].…”