Endeavor Health Deploys Polygenic Risk Score to Flag Hidden Heart Attack Risks

Original from: genomeweb

Cardiologists and primary-care physicians at a Midwest hospital system are using a polygenic risk score (PRS) to identify patients at risk for heart attacks who could benefit from more aggressive treatment.

The team at Endeavor Health, based in the Chicago suburbs, began offering certain patients a PRS called the Integrated Risk Assessment for Coronary Artery Disease (iCAD) last year. The test can be ordered for patients across the hospital system who have existing risk factors, such as high cholesterol or a family history of heart conditions, or who have already suffered an early heart attack.

The goal is to identify at-risk patients and direct resources to them sooner, said Arman Qamar, an interventional cardiologist and director for the center for cardiovascular personalized medicine at Endeavor Health. It's frustrating to see patients have heart attacks, despite leading a healthy lifestyle and taking medications to lower blood pressure and cholesterol, Qamar said, adding, "The question is: Why does that happen?"

One answer could be "embedded in our genes," as certain mutations are linked with cardiovascular risk, he said.

The PRS was developed at Endeavor Health in collaboration with GenomicMD, a lab that's CLIA-certified and accredited by the College of American Pathologists and sells its own PRS tests that assess risks for a range of diseases. GenomicD last month started selling iCAD commercially as a laboratory-developed test.

At Endeavor Health, once physicians order the saliva-based test, a sample collection kit is shipped to patients' homes. After GenomicMD then receives the sample, the turnaround time for results is about four weeks. Results are returned through the patient portal, the same way that patients already receive results for common laboratory tests like those that measure blood sugar and cholesterol, Qamar said.

The test gauges variants in four genes linked to familial hypercholesterolemia - АРОВ, LDLR, LDLRAP1, and PCSK9 — and more than 6 million other genetic variants that separately have minimal impact of cardiovascular risk. However, when considered together, assessment of these variants produces a genomic signature that identifies patients at high, average, or low risk of a heart attack.

That can help physicians identify patients who have a high genetic risk for a heart attack and subsequently direct more aggressive treatment toward them, such as referring them to a preventive cardiologist, prescribing cholesterol-lowering medications, or ordering a CT scan to look for early signs of heart disease. "It's an important missed opportunity that we're able to address," Qamar said.

The test costs about $300 without insurance.

The PRS has proved to be a "more informative tool" for predicting coronary artery disease among patients with high cholesterol when compared to a limited screening of monogenic mutations associated with the disease, according to an analysis of UK Biobank data Qamar and colleagues reported at the American College of Cardiology's annual scientific meeting earlier this year.

For that analysis, investigators compared high cholesterol patients who either had a high PRS score; were found to have at least one pathogenic mutation in LDLR, APOB, or PCSK9; or both. They found that patients who were monogenic carriers with a low PRS score were not more likely to develop coronary artery disease than noncarriers with low PRS scores.

Source: Endeavor Health Deploys Polygenic Risk Score to Flag Hidden Heart Attack Risks