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Based on the available information, here are key publications and research highlights from Carlos Iribarren regarding the utilization of polygenic risk scores (PRS) for coronary artery disease (CAD)
Key Publications and Findings
"Polygenic Risk and Incident Coronary Heart Disease in a Large Multiethnic Cohort"
Journal: American Journal of Preventive Cardiology
Date: March 2024
Summary: This publication examines the predictive performance of a commercially available PRS in a large, multi-ethnic cohort. The study found that a 1-SD increase in PRS was associated with a hazard ratio of 1.18 for incident CHD. Importantly, the addition of a PRS to the Pooled Cohort Equations (PCE) improved the C-statistic and resulted in a Net Reclassification Improvement (NRI) of 9.7% for individuals at intermediate risk according to the PCE. The conclusion of this research is that incorporating polygenic risk improves the identification of individuals who might benefit from more intensive primary prevention strategies.
Links: ResearchGate, PubMed
"Utility of a polygenic risk score for incident CHD: interplay with lifestyle in a multi-ethnic cohort of more than 60,000 individuals"
Journal: European Heart Journal (Abstract)
Date: November 2023 (ESC Congress 2023)
Summary: This work investigated the interplay between lifestyle and genetic risk in a large cohort. It explored whether a favorable lifestyle could mitigate the effect of high genetic risk. This is a crucial topic for clinicians, as it addresses the patient-centered question of whether lifestyle modifications are still effective for those with a high PRS. The abstract was presented at the European Society of Cardiology Congress.
Links: Oxford Academic, ESC 365
"Clinical Utility of Multimarker Genetic Risk Scores for Prediction of Incident Coronary Heart Disease"
Journal: Circulation: Genomic and Precision Medicine
Summary: This study, which is cited in a broader context about PRS, evaluated the clinical utility of multi-marker genetic risk scores in a large cohort of individuals of European ancestry. It found that the inclusion of these scores significantly improved the predictive capacity, discrimination, and reclassification of individuals at intermediate Framingham risk. This publication provides early evidence for the clinical value of PRS in a real-world healthcare system setting, specifically at Kaiser Permanente.
Link: Circulation: Genomic and Precision Medicine
Key Contributions to the Field
Based on the available information, Dr. Iribarren's work, often in collaboration with Kaiser Permanente colleagues like Jamal Rana, has consistently focused on demonstrating the real-world clinical utility of PRS. His research highlights:
Risk Reclassification: The primary clinical value of PRS is in reclassifying individuals at intermediate risk, identifying those who may be candidates for earlier and more intensive preventive therapies, such as statin use.
Performance in Diverse Populations: The research specifically addresses the performance of PRS in multi-ethnic cohorts, a critical point given that many early genetic studies were predominantly conducted in populations of European ancestry.
Integration with Traditional Scores: His publications consistently show how PRS can improve upon traditional risk prediction tools like the Pooled Cohort Equations (PCE).
Interplay with Lifestyle: The research also explores the interaction between genetic risk and lifestyle factors, which is essential for informing clinical counseling and patient management.
The body of work from Iribarren and his collaborators provides cardiologists with crucial, evidence-based data on how to practically utilize PRS to enhance risk stratification and guide therapeutic decisions in a primary prevention setting.
Polygenic Risk and Incident Coronary Heart Disease in a Large Multiethnic Cohort
March 2024
American Journal of Preventive Cardiology 18(9):100661
DOI:10.1016/j.ajpc.2024.100661
Polygenic risk and incident coronary heart disease in a large multiethnic cohort
https://doi.org/10.1016/j.ajpc.2024.100661
Polygenic Risk and Incident Coronary Heart Disease in a Large Multiethnic Cohort
March 2024
American Journal of Preventive Cardiology 18(9):100661
DOI:10.1016/j.ajpc.2024.100661
Polygenic Risk and Incident Coronary Heart Disease in a Large Multiethnic Cohort
March 2024
American Journal of Preventive Cardiology 18(9):100661
DOI:10.1016/j.ajpc.2024.100661
2023 presentation
https://esc365.escardio.org/presentation/268089?hl=en-NZ
Utility of a polygenic risk score for incident CHD: interplay with lifestyle in a multi-ethnic cohort of more than 60,000 individuals Free
C Iribarren , M Lu , R Elosua , J S Rana
Author Notes
European Heart Journal, Volume 44, Issue Supplement_2, November 2023, ehad655.2448, https://doi.org/10.1093/eurheartj/ehad655.2448
Published:
09 November 2023
As requested, here is a list of publications on polygenic risk scores (PRS) by cardiologist Jamal Rana, along with relevant details and hyperlinks.
Key Publications and Findings by Jamal Rana
Dr. Jamal Rana's research, often in collaboration with Carlos Iribarren, focuses on the clinical application and utility of PRS, particularly for coronary heart disease (CHD) and cardiovascular disease (CVD) prevention.
"Polygenic Risk and Incident Coronary Heart Disease in a Large Multiethnic Cohort"
Journal: American Journal of Preventive Cardiology
Summary: This publication is a collaboration between Dr. Rana and Dr. Iribarren. It demonstrates the predictive performance of a commercially available PRS in a large, multi-ethnic population. The study's key finding is that adding PRS to traditional risk assessment tools like the Pooled Cohorts Equations (PCE) significantly improves risk prediction and reclassification, especially for individuals at intermediate risk. The authors conclude that incorporating polygenic risk helps identify people who could benefit from more intensive preventive care.
Links: PubMed, ResearchGate
"Using Polygenic Risk Scores for Prioritizing Individuals at Greatest Need of a Cardiovascular Disease Risk Assessment"
Journal: Journal of the American Heart Association
Summary: Published in July 2023, this study directly compared the use of a PRS with primary care records for identifying individuals at high risk for CVD. It found that using PRS could reduce the number of people who need to be screened to prevent one CVD event by 20% to 35%. The findings suggest that PRS could be a beneficial tool for streamlining resource allocation in a primary care setting while maintaining effective prevention.
Link: Journal of the American Heart Association
"Polygenic Score Assessed in Young Adulthood and Onset of Subclinical Atherosclerosis and Coronary Heart Disease"
Journal: Journal of the American College of Cardiology (JACC)
Summary: This publication highlights the use of PRS for risk assessment in younger populations. The study demonstrated a strong association between a genome-wide polygenic score for CHD (GPSCHD) and the risk of developing subclinical atherosclerosis and CHD events. It shows that even in young adults with no detectable coronary artery calcium (CAC), a high polygenic score is predictive of future risk, suggesting a potential role for PRS in early-life prevention.
Link: JACC
Key Research Focus
Dr. Rana's work, frequently in a clinical setting at Kaiser Permanente, contributes significantly to bridging the gap between genomic research and clinical practice. His research aims to validate the utility of PRS in real-world scenarios, particularly in:
Risk Stratification: Improving the accuracy of identifying individuals at high risk, especially those who may be missed by traditional risk factors.
Precision Medicine: Demonstrating how genetic information can be used to personalize preventive care and treatment decisions.
Early Intervention: Proving the value of PRS in assessing risk at a younger age, allowing for earlier preventative measures.
Polygenic Score Assessed in Young Adulthood and Onset of Subclinical Atherosclerosis and Coronary Heart Disease
https://www.jacc.org/doi/abs/10.1016/j.jacc.2022.05.013?hl=en-NZ
Using Polygenic Risk Scores for Prioritizing Individuals at Greatest Need of a Cardiovascular Disease Risk Assessment
Journal of the American Heart Association