Kaiser Permanente study investigates how polygenic risk scores can contribute to healthcare

A new study from Kaiser Permanente suggests that a saliva test that can assess a person’s unique genomic variations could help doctors identify patients at high risk of developing coronary heart disease. .

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

All participants in the study provided saliva samples for research purposes. The saliva was tested for 12 genetic variations, called single nucleotide polymorphisms (SNPs), in the genome that previous studies have suggested increase the risk of coronary heart disease. This test reports a polygenic risk score. The higher the score, the higher the risk the person is.

“Although there is research into the potential role of using polygenic risk scores that account for millions of variations, this study is based on the 12 most important genetic risk scores, which are relatively easy to implement. “This study is unique in that it demonstrates the clinical utility of a test that can be used for variants that have been reported in the literature to be associated with coronary heart disease.” said Carlos Iribarren, MD, MPH, PhD.

Coronary heart disease occurs when the arteries that supply blood to the heart narrow, restricting blood flow. All study participants completed a medical history questionnaire from 2007 to 2008. Health behaviors known to contribute to heart disease risk, such as smoking, diet, and physical activity. ancestor. and a family history of heart attacks. The researchers wanted to see if adding a polygenic risk score could help fine-tune the assessment of coronary heart disease risk.

During the 14-year follow-up, 3,289 of the study participants were diagnosed with or died from coronary heart disease. This study found that the absolute risk of coronary heart disease was statistically significantly separated by genetic risk group. This information could be used to identify patients who could take statins to lower their cholesterol and modify their lifestyle, thereby reducing their risk of coronary heart disease.

This study shows that the association between polygenic risk scores and risk of coronary heart disease persists even after adjusting for factors such as genetic ancestry, smoking, diabetes, hypertension, cholesterol levels, and other risk factors. It was found that gender did not differ significantly.

This finding is consistent with similar studies examining polygenic risk scores and risk of coronary heart disease.

“As part of Kaiser Permanente’s focus on innovation and precision medicine, we anticipate incorporating polygenic risk scores in the not-too-distant future,” said Jamal Permanente Medical cardiologist and lead author. said S. Rana, MD. A member of the group and an adjunct researcher in the Kaiser Permanente Research Department. “But first we need to determine how best to incorporate them into our care. We also need more education for both physicians and patients about the impact of genetic risk assessment.” It will be.”

This research was funded by GENinCode, Plc.

Co-authors include Meng Lu, MD, MS, Department of Research; Dr. Roberto Elosua, MD, Medical Research Institute Hospital, Barcelona, ​​Spain; Dr. Martha Gulati, resident of Cedars-Sinai, Los Angeles. Dr. Nathan D. Wong of the University of California, Irvine; Roger S. Blumenthal, MD, Johns Hopkins University School of Medicine; Dr. Steve Nissen of the Cleveland Clinic.

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About Kaiser Permanente Research Department

Kaiser Permanente’s Research Division conducts, publishes, and disseminates epidemiology and health services research to improve the health and health care of Kaiser Permanente members and society as a whole. We aim to understand the determinants of disease and health and improve the quality and cost-effectiveness of healthcare. Currently, his more than 600 staff members at DOR are working on his more than 450 epidemiology and health services research projects. For more information, visit divisionofresearch.kaiserpermanente.org or follow @KPDOR.