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Do I really need to take statins? Getting closer to personalise CVD risk using genetic profiling

Comment by Maria Antonopoulou, Primary Care and Risk Factor Management Section

Risk Factors and Prevention

In primary prevention, this is a typical question for primary care physicians, often dealing with misinformed and apparently “healthy” middle-aged individuals, reluctant to change their habits or receive medications. Moreover, the typical risk prediction models using traditional risk factors often fail to recognize the actual risk of one person, raising questions about the effectiveness of the risk factor management, especially in personalised level. To overcome this Integrated Risk Tools (IRTs) combining Polygenic Risk Scores (PRS) with current risk calculators has been developed with AHA recently offered scientific guidance for implementation of PRS by healthcare systems, if the PRS are fulfilling three broad criteria relative to efficacy, harm, and logistics1.

The Healthcare Evaluation of Absolute Risk Testing Study was designed for the demanding UK primary care setting, aiming to explore the feasibility and operational success of incorporating a CVD IRT, combing both genetic and non-genetic factors for CVD, in routine primary care, as well as the potential changes in participant’s treatment2. Genotyping by blood sample analysis and calculation of QRISK2 score was obtained for the 832 participants, aged 45-64 years, with no history of CVD. Among the encouraging results were the overwhelming feedback from the practicing healthcare providers, with 90% of them agreed that IRTs can be incorporated into routine primary care in a straight-forward manner. Adding PRS information to QRISK2 leaded to re-classification of 23.9% of participants CVD risk, resulting in changes in clinical management, when CVD IRT was greater than QRISK2 for 27.8% of participants, demonstrating the clinical utility of the CVD IRT, hoping that genetic analysis will become accessible to health systems worldwide.

Although the study limitations, possibly affecting the generalization of the findings, it was shown the feasibility of the implementation of the CVD IRT tool along with the standardized QRISK in primary care, providing flexibility for the healthcare professionals to consider risk scores in their shared decision management with their patients, prioritizing those who are likely to be high risk (their estimated 10 year risk for CVD >10%) for primary prevention strategies, assuming that such combined evaluation, using integrated risk scores will eventually be included in standardized routine care, providing convincing answers enabling earlier and personalised intervention.


Maria Antonopoulou commented on:

2. 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 Ahmet Fuat, Ella Adlen, Mark Monane, Ruth Coll, Sarah Groves, Elizabeth Little, Jonathan Wild, Farzan J Kamali, Yusuf Soni, Shona Haining, European Journal of Preventive Cardiology 

Additional reference:

1. O'Sullivan   JW, Raghavan   S, Marquez-Luna   C, Luzum   JA, Damrauer   SM, Ashley   EA, et al.   Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association. Circulation 2022;146:e93–e118

Notes to editor

Note: The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.