ArticleJACC. Advances2022
Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease.
Article in JACC. Advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 37 citations in OpenAlex.
- Polygenic Risk Based Detection and Treatment of Subclinical Coronary Atherosclerosis in the PROACT Clinical Trials.Journal of the American College of Cardiology · 2026Trial
- Inherited risk of coronary artery disease: redefining care with imaging and genetics.Nature reviews. Cardiology · 2026Review
- Exploratory LC-MS/MS-Based Proteomic and Lipidomic Profiling of Plasma Samples from Premature Coronary Artery Disease Patients: A Pilot Study in a South Asian Population.International journal of molecular sciences · 2026Article
- Evaluating Individual Level Performance of Polygenic Risk Scores Using Early Onset High Genetic Risk Coronary Artery Disease as a Benchmark.medRxiv : the preprint server for health sciences · 2026Article
- Stability of integrated polygenic and clinical coronary artery disease risk prediction.American journal of preventive cardiology · 2026Article
- Economic modeling of polygenic risk prediction of coronary artery disease in childhood.NPJ cardiovascular health · 2026Article
- Development of a comprehensive cardiovascular disease genetic risk assessment test.Genetics in medicine open · 2026Article
- Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.Molecular genetics & genomic medicine · 2025Article
- Meta-prediction of coronary artery disease risk.Nature medicine · 2025Article
- Review
- Breaking binary in cardiovascular disease risk prediction.NPJ cardiovascular health · 2025Review
- Polygenic Risk Scores in Human Disease.Clinical chemistry · 2025Review
- Implementation of genetic testing for heritable cardiac conditions: A scoping review.Genetics in medicine open · 2025Review
- Review
- Development of a comprehensive cardiovascular disease genetic risk assessment test.medRxiv : the preprint server for health sciences · 2024Article
- Association between a polygenic lipodystrophy genetic risk score and diabetes risk in the high prevalence Maltese population.Acta diabetologica · 2024Article
- Familial Variability of Disease Severity in Adult Patients With ADPKD.Kidney international reports · 2024Article
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- Clinical applications of polygenic risk score for coronary artery disease through the life course.Atherosclerosis · 2023Review
- Advancing the communication of genetic risk for cardiometabolic diseases: a critical interpretive synthesis.BMC medicine · 2023Article
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundState-of-the-art genetic risk interpretation for a common complex disease such as coronary artery disease (CAD) requires assessment for both monogenic variants-such as those related to familial hypercholesterolemia-as well as the cumulative impact of many common variants, as quantified by a polygenic score.
objectivesThe objective of the study was to describe a combined monogenic and polygenic CAD risk assessment program and examine its impact on patient understanding and changes to clinical management.
methodsStudy participants attended an initial visit in a preventive genomics clinic and a disclosure visit to discuss results and recommendations, primarily via telemedicine. Digital postdisclosure surveys and chart review evaluated the impact of disclosure.
resultsThere were 60 participants (mean age 51 years, 37% women, 72% with no known CAD), including 30 (50%) referred by their cardiologists and 30 (50%) self-referred. Two (3%) participants had a monogenic variant pathogenic for familial hypercholesterolemia, and 19 (32%) had a high polygenic score in the top quintile of the population distribution. In a postdisclosure survey, both the genetic test report (in 80% of participants) and the discussion with the clinician (in 89% of participants) were ranked as very or extremely helpful in understanding the result. Of the 42 participants without CAD, 17 or 40% had a change in management, including statin initiation, statin intensification, or coronary imaging.
conclusionsCombined monogenic and polygenic assessments for CAD risk provided by preventive genomics clinics are beneficial for patients and result in changes in management in a significant portion of patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.