Coronary artery disease (CAD), atherosclerosis
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The University of Alabama at Birmingham (UAB) Cardiogenomics Clinic announced it will partner with genomic software company Allelica, which specializes in implementation of polygenic risk scores (PRS), for a clinical implementation study on the use of PRS to inform clinical uses of PRS for the prevention of coronary artery disease (CAD).

While there is a growing body of research supporting the use of PRS to inform clinical applications for the prevention of CAD, its use has not yet become common in U.S. healthcare systems. Roadblocks to wide implementation include unclear clinical application guidelines, a lack of provider education, and uncertainty about the use of PRS across patients of different ancestries.

Under the terms of the partnership, the UAB Cardiogenomics Clinic will offer coronary artery disease PRS testing to a cohort of healthy patients interested in actively pursuing prevention strategies. Allelica will provide testing via its CLIA, CAP lab partner Eurofins Clinical Enterprise, with Allelica tools providing the CAD PRS data analysis.

“This is a unique opportunity for the patients in the southeast to get a personalized genetic risk assessment for their lifetime risk of developing heart attacks. The main goal for us is to utilize PRS to create a personalized prevention plan for the patients to reduce their risk of developing a potentially fatal heart disease event,” said explained Pankaj Arora, MD, director of the UAB Cardiovascular Clinical and Translational Research program. “We are now one of the few sites in the entire United States where patients can get this one-time assessment of their genetic risk of developing heart attacks.”

The study will not focus on patient behaviors alone. Rather, it will survey patients and providers alike one month after the delivery of the PRS to assess their reactions and perceived usefulness of the CAD risk data. This will be followed one year later via the collection and evaluation of biophysical and lifestyle data to determine if the integration of PRS analysis and reporting in the clinical pathway had any impact on the patient’s personal risk mitigation actions.

The goal of the partnership is to help spur the adoption of PRS for the management of patients at risk of CAD, noted Giordano Bottà, CEO of Allelica. “This study enables us to produce evidence of the real world value of PRS in the prevention of common disease,” he said in a press release. “The physicians at UAB will be setting new standards for healthcare providers across specialties for the incorporation of PRS.”

For the UAB Cardiogenomics Clinic, the research is an opportunity to add to their capabilities that include determining genetic risk of CAD development and associated genetic counseling services. Ultimately, the study could provide the basis for including CAD PRS in the clinic’s standard of care guidelines.

“Clinical research is central to improving the implementation of such nuanced personalized tools, Arora added. “Hence, we are collaborating with leaders across the nation to bring the advances in genomic medicine such as the PRS to the doorstep of every patient.”

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