CARDIOVASCULAR DISEASE
Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting 2024 (Samani NJ, Beeston E, Greengrass C, Riveros-McKay F, Debiec R, Lawday D)
In the Genetics and the Vascular Health Check Study (GENVASC), embedded within the UK NHS Health Check programme, we evaluated whether adding a cardiovascular disease polygenic risk score (CVD-PRS) to standard clinical risk scores improves identification of individuals at high risk of major CVD events. Between 2012 and 2020, 44,141 adults aged 40–74 years without known CVD were recruited from 147 UK general practices. In a nested case-control analysis of 195 individuals who experienced a major CVD event and 396 propensity-matched controls, the CVD-PRS was significantly higher in cases (mean 0.32) than controls (−0.18, P = 8.28×10−9). QRISK2 alone identified 61.5% of future cases as high risk (≥10% 10-year risk), whereas combining QRISK2 with an integrated risk tool (IRT) incorporating the CVD-PRS identified 68.7% (relative increase 11.7%, P = 1×10−4), with an odds ratio of up-classification of 2.41 (95% CI: 1.03–5.64, P = .031). The effect was more pronounced in individuals aged 40–54 years (relative increase 47.7%, P = .001) and was consistent across sex and ethnic groups. Similar improvements were observed when the CVD-PRS was added to ASCVD-PCE or SCORE2 scores. These findings demonstrate that incorporating genetic risk information into clinical risk assessment can enhance identification of high-risk individuals, particularly younger adults, providing evidence for the potential integration of CVD-PRS into routine health systems.
Study Link:
https://doi.org/10.1093/eurheartj/ehae342.
Evaluating the clinical effectiveness of the NHS Health Check programme: a prospective analysis in the Genetics and Vascular Health Check (GENVASC) study 2023 (Debiec R, Lawday D, Bountziouka V, Beeston E, Greengrass C, Bramley R)
This prospective cohort study assessed the clinical effectiveness of the National Health Service Health Check (NHSHC) programme in reducing cardiovascular disease (CVD) risk across 147 primary care practices in Leicestershire and Northamptonshire, UK. A total of 27,888 individuals undergoing NHSHC with at least 18 months of follow-up were included. At recruitment, 18% of participants had high CVD risk (10%–20% 10-year risk) and 4% very high risk (>20%). New diagnoses included hypertension in 2.3%, hypercholesterolaemia in 0.25%, and diabetes mellitus in 0.9%, with new prescriptions of statins and antihypertensives each observed in 5.4% of participants. Average reductions in total cholesterol were 0.38 mmol/L and 1.71 mmol/L in participants with baseline cholesterol >5 mmol/L and >7.5 mmol/L, respectively, while systolic blood pressure decreased by 2.9 mm Hg, 15.7 mm Hg, and 33.4 mm Hg in patients with grade 1, 2, and 3 hypertension. However, approximately one-third of patients with increased CVD risk had no record of follow-up or treatment. These findings indicate that while the NHSHC programme effectively identifies high-risk individuals and facilitates clinical interventions, gaps in follow-up persist, highlighting areas for improving programme implementation and maximizing its impact on CVD prevention.
Study Link
https://doi.org/10.1136/bmjopen-2022-068025.
The management of acute venous thromboembolism in clinical practice – study rationale and protocol of the European PREFER in VTE Registry 2015 (Agnelli G, Gitt AK, Bauersachs R, Fronk E-M, Laeis P, Mismetti P)
Venous thromboembolism (VTE) is a significant health burden, affecting over one million individuals annually in Europe, yet real-world data on its management, patient outcomes, and associated healthcare costs are limited. The PREFER in VTE registry was a prospective, observational, multicenter study conducted across seven European countries (Austria, France, Germany, Italy, Spain, Switzerland, and the UK) to characterize the management of VTE, patterns of anticoagulant use, patient pathways, clinical outcomes, treatment satisfaction, quality of life (QoL), and healthcare resource utilization over 12 months following a first-time or recurrent VTE. A total of 3,545 adult patients with symptomatic, objectively confirmed acute VTE were enrolled from 381 centers, representing hospitals, specialized, and primary care settings. Data were collected at baseline and during follow-up visits at 1, 3, 6, and 12 months, via routine visits or telephone. The registry provides comprehensive insights into current real-world VTE management across diverse healthcare environments and highlights areas for potential improvement in clinical care, patient experience, and resource allocation..
Study Link
https://doi.org/10.1186/s12959-015-0071-z.