No 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.

BackgroundFamilial hypercholesterolaemia (FH) (prevalence 1 in 250) is an inherited condition that significantly increases risk of premature cardiovascular disease. Early diagnosis can potentially normalise cardiovascular risk with lipid-lowering medicines (statins and fibrates). Only 7% of patients with FH are identified in the UK. Improving identification, and understanding disparities in ascertainment and management, is an NHS priority.AimTo assess determinants of lipid-lowering prescribing in ethnically diverse adults with an FH code.MethodRetrospective cross-sectional analysis of Lambeth DataNet, containing anonymised adult patient data from 41 practices in South London. Stata 17 was used to run sequential multilevel logistic regression models, adjusted for practice effects, to estimate the odds of no lipid-lowering prescription in FH-coded adults; this was assessed across 10 ethnic groups and other patient-level factors: demographic, socioeconomic, lifestyle, comorbidities, and practice factors (consultation frequency and practice list size).ResultsOne hundred and sixty-one of 801 (20%) of adults with an FH code received no lipid-lowering medication. The fully adjusted model for no lipid-lowering prescriptions showed the following associations: age (years) odds ratio (OR) 0.93 (P<0.001, 95% confidence interval [CI] = 0.91 to 0.95), male sex OR 0.47 (P= 0.002, 95% CI = 0.29 to 0.76), diabetes OR 0.26 (P= 0.04, 95% CI = 0.70 to 0.96), hypertension OR 0.30 (P<0.01, 95% CI = 0.12 to 0.72), and frequency of GP attendance OR 0.48 (P= 0.03, 95% CI = 0.24 to 0.94). Sensitivity analyses examining determinants of high-intensity statin prescribing found similar results.ConclusionThe study suggests important determinants of lipid-lowering prescribing in an ethnically diverse adult population included older age, male sex, hypertension, and diabetes. Ethnicity showed no significant associations with lipid-lowering prescribing after adjusting for other determinants including deprivation measures.

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.