Illustration of red blood cells moving through clogged Artery
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A new health economics study published last month online ahead of print publication in the Journal of the American Heart Association shows that adding a polygenic risk score (PRS) as an additional risk-enhancing factor in the current standard-of-care atherosclerotic cardiovascular disease Pooled Cohort Equation (PCE) risk assessment would provide cost savings to U.S. healthcare systems.

The study also demonstrated that the coronary artery disease (CAD) risk assessment was cost-effective across all age groups, though the health and health economic benefits were most effective when applied to younger age groups when these patients were followed over time.

“We know that PRS can identify high-risk individuals who are invisible to traditional risk assessments for cardiovascular disease, so the question became: is it sustainable from an implementation perspective?” said Giordano Bottà, CEO and co-founder of Allelica, and first author on the study. “The results of this study showed us that adding PRS to the standard of care not only improves individual health outcomes; it saves money. These results demonstrate that using the genetic risk factor in preventive care has a tremendous impact in reducing healthcare costs, allowing for better allocation of resources to lessen the burden of cardiovascular diseases on our society.”

The new research assessed the associated real-world cost effectiveness of a June 2020 study published in the Journal of the American College of Cardiology by Krishna Aragam et al. which determined the benefit of adding PRS to the standard-of-care CAD risk assessments. That study concluded: “Current paradigms for primary cardiovascular prevention incompletely capture a polygenic susceptibility to CAD. An opportunity may exist to improve CAD prevention efforts by integrating both genetic and clinical risk.”

According to Allelica’s analysis from the cohort of 10,000 people studied who had borderline risk of cardiovascular disease who were not taking statin therapy, adding CAD-PRS to the PCE would prevent 29 events of CAD or ischemic stroke. When projected over a five-year time horizon, this would represent healthcare costs savings of $40 per person screened, which extrapolates to a country-wide cost savings of more than $1.6 billion.

“This analysis provides the needed evidence for payers and policy makers to consider integrating PRS in the standard of care as an additional tool in cardiovascular disease prevention,” said lead author Dr. Deo Mujwara, who worked in concert with experts in industry and academia at Illumina.

For this assessment, the team applied a Markov model on a cohort of 40‐year‐old individuals with borderline or intermediate 10‐year risk (5% to <20%) for atherosclerotic cardiovascular disease to identify those in the top quintile of the CAD‐PRS distribution who are at high risk and eligible for statin prevention therapy. The model projected medical costs—in 2019 US dollars—of screening for CAD, statin prevention therapy, treatment, and monitoring patients living with CAD or ischemic stroke and quality‐adjusted life‐years for PCE+CAD‐PRS versus PCE alone. The risk of developing CAD, the effectiveness of statin prevention therapy, and the cost of treating CAD had the largest impact on the cost per quality‐adjusted life‐year gained.

The new cost-effectiveness study of PRS for cardiovascular conditions is the latest from Allelica, as it looks to establish with public and private payers the value of clinical-grade PRS. An earlier study, published in the journal Circulation “’Risk of Coronary Artery Disease Conferred by Low-Density Lipoprotein Cholesterol Depends on Polygenic Background,’ showed that combining information on an individual’s PRS of heart attack with their LDL level helps determine those at most risk from heart attack—including those who could potentially benefit from treatment with statins or PCSK9 inhibitors.

Allelica offers CAD clinical-grade PRS through its partner laboratory Eurofins lab, Clinical Enterprise, a CLIA CAP lab located in Massachusetts. The company has also brought to market clinical-grade PRS testing services for other diseases, including breast cancer, prostate cancer, and Type 2 Diabetes.

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