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Updated: Oct 1, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
New prevention scenarios: polygenic risk
Alessandro Boccanelli1, Giordano Bottà2
1Società Italiana di Cardiologia Geriatrica (SICGe), Rome, Italy.
Insights
Polygenic Risk Score (PRS) identifies individuals at high risk for heart attack, even those without traditional risk factors. This genetic approach enhances coronary heart disease prevention by detecting previously invisible high-risk populations.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Preventive Cardiology
Background:
- Coronary heart disease remains a leading cause of death despite being preventable.
- Current risk models fail to identify up to 30% of myocardial infarction cases due to lack of traditional risk factors.
- Genetic factors contribute significantly (40-60%) to myocardial infarction but are underutilized in primary prevention.
Purpose of the Study:
- To discuss the clinical applications of Polygenic Risk Score (PRS) for coronary artery disease.
- To highlight the limitations of traditional risk models in identifying all at-risk individuals.
- To explore how PRS can improve the detection of high-risk populations.
Main Methods:
- Leveraging advances in genomics and clinical big data.
- Developing and utilizing Polygenic Risk Score (PRS).
- Comparing PRS-identified risk with traditional risk factors and LDL-C levels.
Main Results:
- PRS can identify individuals with average LDL-C but high heart attack risk, comparable to hypercholesterolemia carriers.
- PRS effectively detects high-risk individuals missed by conventional risk assessment tools.
- Demonstrates the potential of genetic risk stratification in cardiovascular disease.
Conclusions:
- Polygenic Risk Score (PRS) offers a novel approach to coronary artery disease risk assessment.
- PRS is clinically useful for identifying high-risk individuals not apparent through traditional methods.
- Integrating PRS into primary prevention strategies can improve cardiovascular health outcomes.
Abstract:
Although coronary heart disease is a highly preventable disease, it is still the leading cause of morbidity and mortality in developed countries. This is also due to the fact that the risk models used in clinical practice have proved ineffective in identifying people at risk: up to 30% of cases of myocardial infarction do not have traditional risk factors used in risk estimation models. Although the genetic component of myocardial infarction has been known for many years, with an inheritance rate of between 40% and 60%, it is not yet used as a risk factor in primary prevention models such as the Heart Card or the European SCORE. Recent advances in genomics and the use of clinical big data have allowed the development of genetic risk scores called Polygenic Risk Score (PRS), capable of identifying populations with average LDL-C levels, but with the same risk of heart attack of carriers of hypercholesterolaemia. The clinical usefulness of the PRS lies precisely in identifying high-risk individuals who are invisible to traditional models. The clinical applications of PRS for coronary artery disease are discussed in this report.
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