In recent newsletters we’ve discussed how polygenic risk scores could soon become a new tool to help physicians guide health care decisions for people from all backgrounds.
Two Kaiser Permanente physician-scientists, Carlos Iribarren, MD, MPH, PhD, and Jamal Rana, MD, PhD, used Research Bank data to develop a polygenic risk score. In the future, these risk scores could help doctors better identify people who are likely to develop coronary heart disease; this would allow doctors to prescribe appropriate preventive treatments sooner.
The study, published in the American Journal of Preventive Cardiology, included 63,070 adults who were some of the first Research Bank participants. These participants had contributed saliva samples and these samples were tested for 12 different genetic variations. These types of genetic differences are called single nucleotide polymorphisms or “SNPs” (pronounced “snips”). Findings from previous studies suggest that these particular SNPs increase a person’s risk for coronary heart disease. The test Drs. Iribarren and Rana developed reports a polygenic risk score based on these SNPs. The higher a person’s score, the more likely it is that the person will develop coronary heart disease.
Coronary heart disease occurs when the arteries that supply blood to the heart become narrowed and limit blood flow. Between 2007 and 2008, study participants completed Research Bank questionnaires that included questions about their medical history, diet, smoking habits, physical activity, ancestry, and family history of heart attacks. The researchers wanted to see if adding the polygenic risk score to existing clinical and Research Bank information would help fine-tune the evaluation of individuals likely to develop coronary heart disease.
During the 14 years after participants completed the Research Bank questionnaires, 3,289 of the study participants were diagnosed with or died of coronary heart disease. The study found that the polygenic risk scores could have helped better predict which individuals would develop coronary heart disease. In the future, these risk scores could potentially be used to identify patients who might benefit from taking a statin to reduce their cholesterol and/or modifying their lifestyle. For example, patients could be encouraged to change their diet or increase their physical activity to lessen their chances of developing coronary heart disease.
The findings from this study support results from similar studies that have looked at polygenic risk scores and coronary heart disease risk. Dr. Rana, senior author of this study, said, “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. First though, we will need to determine the best ways to integrate them into our care. It will also require more education, for both physicians and patients, on the implications of genetic risk assessments.”
We look forward to bringing you similar updates in the future regarding how your participation in the Research Bank might help improve care for Kaiser Permanente members and the broader community — thank you!
