多基因风险评分加入 QRISK®2 心血管疾病风险计算器在初级保健环境中表现出强大的临床可接受性和临床实用性。

A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting.

机构信息

Durham University, Durham, UK.

Genomics plc, King Charles House, Park End Street, Oxford OX1 1JD, UK.

出版信息

Eur J Prev Cardiol. 2024 Apr 18;31(6):716-722. doi: 10.1093/eurjpc/zwae004.

DOI:10.1093/eurjpc/zwae004

PMID:38243727

Abstract

AIMS

The aim of the study was to assess the real-world feasibility, acceptability, and impact of an integrated risk tool for cardiovascular disease (CVD IRT, combining the standard QRISK®2 risk algorithm with a polygenic risk score), implemented within routine primary practice in the UK National Health Service.

METHODS AND RESULTS

The Healthcare Evaluation of Absolute Risk Testing Study (NCT05294419) evaluated participants undergoing primary care health checks. Both QRISK2 and CVD IRT scores were returned to the healthcare providers (HCPs), who then communicated the results to participants. The primary outcome of the study was feasibility of CVD IRT implementation. Secondary outcomes included changes in CVD risk (QRISK2 vs. CVD IRT) and impact of the CVD IRT on clinical decision-making. A total of 832 eligible participants (median age 55 years, 62% females, 97.5% White ethnicity) were enrolled across 12 UK primary care practices. Cardiovascular disease IRT scores were obtained on 100% of the blood samples. Healthcare providers stated that the CVD IRT could be incorporated into routine primary care in a straightforward manner in 90.7% of reports. Participants stated they were 'likely' or 'very likely' to recommend the use of this test to their family or friends in 86.9% of reports. Participants stated that the test was personally useful (98.8%) and that the results were easy to understand (94.6%). When CVD IRT exceeded QRISK2, HCPs planned changes in management for 108/388 (27.8%) of participants and 47% (62/132) of participants with absolute risk score changes of >2%.

CONCLUSION

Amongst HCPs and participants who agreed to the trial of genetic data for refinement of clinical risk prediction in primary care, we observed that CVD IRT implementation was feasible and well accepted. The CVD IRT results were associated with planned changes in prevention strategies.

摘要

目的

本研究旨在评估心血管疾病综合风险工具（CVD IRT，将标准 QRISK®2 风险算法与多基因风险评分相结合）在英国国民保健系统常规初级实践中的实际可行性、可接受性和影响。

方法和结果

医疗保健评估绝对风险测试研究（NCT05294419）评估了接受初级保健健康检查的参与者。CVD IRT 评分和 QRISK2 评分均反馈给医疗保健提供者（HCP），然后由 HCP 将结果传达给参与者。该研究的主要结果是 CVD IRT 实施的可行性。次要结果包括 CVD 风险的变化（QRISK2 与 CVD IRT）和 CVD IRT 对临床决策的影响。共有 12 家英国初级保健机构的 832 名符合条件的参与者（中位数年龄 55 岁，62%为女性，97.5%为白种人）入组。对 100%的血液样本进行了 CVD IRT 评分。90.7%的报告中，HCP 表示可以以简单直接的方式将 CVD IRT 纳入常规初级保健。90.7%的报告中，参与者表示他们“可能”或“非常可能”将该测试推荐给家人或朋友。98.8%的参与者表示该测试对他们个人有用，94.6%的参与者表示他们很容易理解结果。当 CVD IRT 超过 QRISK2 时，HCP 计划改变 388 名参与者中的 108 名（27.8%）和绝对风险评分变化>2%的 132 名参与者中的 62 名（47%）的管理。