National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.
Oncology Division, CHU de Québec-Université Laval Research Center, Québec City, QC G1R 3S3, Canada.
Genes (Basel). 2023 Mar 16;14(3):732. doi: 10.3390/genes14030732.
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.
多基因风险评分 (PRS) 量化了个体中常见遗传变异的综合效应。“个性化乳腺癌风险评估”将 PRS 与其他遗传和非遗传风险因素相结合,提供风险分层筛查和干预。大规模研究正在评估实施风险分层筛查的临床实用性和可行性;然而,全科医生的观点在很大程度上仍然未知。本研究旨在探讨全科医生的:(i) 对风险分层筛查的了解;(ii) 对风险分层筛查的态度;和 (iii) 对继续专业发展的偏好。2022 年 7 月至 8 月期间,对英国全科医生进行了横断面在线调查。该调查由皇家全科医生学院分发,并通过其他邮件列表和社交媒体分发。共有 109 名全科医生完成了调查;49%的人不熟悉 PRS 的概念。关于风险分层筛查途径,75%的人同意对高风险女性进行更早和更频繁的筛查,43%的人既不同意也不反对对低风险女性进行更晚和更少的筛查,而 55%的人完全反对对低风险女性进行筛查。总的来说,81%的人对风险分层筛查对患者的潜在影响持积极态度,62%的人对其对实践的潜在影响持积极态度。全科医生将医疗保健专业人员的培训作为未来风险分层筛查实施的优先事项,更喜欢在线学习形式。结果表明,全科医生对 PRS 和风险分层筛查的了解有限。培训——最好使用在线学习形式——被确定为未来实施的首要任务。全科医生对风险分层筛查的潜在影响持积极态度;然而,对于低风险的筛查途径存在犹豫和分歧。