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Genomic risk scores may help identify patients at higher risk for coronary heart disease

Kaiser Permanente study looks at how polygenic risk scores may contribute to medical care

Saliva tests that can assess a person’s unique genomic variants may one day help physicians identify patients at higher risk of developing coronary heart disease, new Kaiser Permanente research suggests.

The study, published in the American Journal of Preventive Cardiology, included 63,070 adult members of Kaiser Permanente Northern California (KPNC) who are participants of the KPNC Genetic Epidemiology Resource in Adult Health and Aging (GERA) cohort. GERA is part of the Research Program on Genes, Environment and Health (RPGEH), a Kaiser Permanente Northern California scientific research program that facilitates and conducts large-scale studies of genetic and environmental factors that influence common illnesses and disorders, such as heart disease.

Carlos Iribarren, MD, MPH, PhD

The people included in the study had all contributed a saliva sample for research purposes. The saliva was tested for 12 genetic variants — called single nucleotide polymorphisms (SNPs) — in their genome that prior studies have suggested increase a person’s risk for coronary heart disease. The test reports a polygenic risk score; the higher the score, the higher the person’s risk.

“While there are studies about the potential role of using polygenic risk scores that account for millions of variations, this study is unique because it demonstrates the clinical utility of a test that is relatively simple to perform because it is based on the most significant 12 genetic variants reported in the literature as being associated with coronary heart disease,” said lead author Carlos Iribarren, MD, MPH, PhD, a research scientist at the Kaiser Permanente Division of Research.

Coronary heart disease occurs when the arteries that supply blood to the heart become narrowed, limiting blood flow. Between 2007 and 2008, all the study participants had completed a questionnaire about their medical history; health behaviors known to contribute to heart disease risk, such as smoking, diet, and physical activity; ancestry; and family history of heart attack. The researchers wanted to see if adding the polygenic risk score helped fine tune the assessment of coronary heart disease risk.

During 14 years of follow-up, 3,289 of the study participants were diagnosed with or died of coronary heart disease. The study found statistically significant separations of absolute risk for coronary heart disease by genetic risk groups. This information could potentially be used to identify the patients who might benefit from taking a statin to reduce their cholesterol and modify their lifestyle, and in turn decrease their risk for coronary heart disease.

Jamal Rana, MD, PhD

The study found that adjusting for factors such as genetic ancestry, smoking, diabetes, hypertension, cholesterol levels, and other risk factors did not significantly alter the association seen between the polygenic risk score and risk for coronary heart disease.

The findings align with similar studies that have looked at polygenic risk score and coronary heart disease risk.

“We foresee including polygenic risk scores in the not-too-distant future as part of our initiatives with focus on innovation and precision medicine at Kaiser Permanente,” said senior author Jamal S. Rana, MD, PhD, a cardiologist with The Permanente Medical Group, and an adjunct investigator at the Kaiser Permanente Division of Research. “First though, we will need to determine the best ways to integrate them into our care. It will also require more education, both for physicians and patients, on the implications of genetic risk assessments.”

The study was funded by GENinCode, Plc.

Co-authors include Meng Lu, MD, MS, of the Division of Research; Roberto Elosua, MD, PhD, of the Institut Hospital del Mar d’Investigacions Mediques in Barcelona, Spain; Martha Gulati, MD, of Cedars-Sinai in Los Angeles; Nathan D. Wong, PhD, of the University of California, Irvine; Roger S. Blumenthal, MD, of Johns Hopkins School of Medicine; and Steve Nissen, MD, of the Cleveland Clinic.

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About the Kaiser Permanente Division of Research

The Kaiser Permanente Division of Research conducts, publishes and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and society at large. It seeks to understand the determinants of illness and well-being, and to improve the quality and cost-effectiveness of health care. Currently, DOR’s 600-plus staff is working on more than 450 epidemiological and health services research projects. For more information, visit or follow us @KPDOR.

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