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Allelica, UAB to Study Clinical Value of Polygenic Risk Scores for Coronary Artery Disease

NEW YORK – Allelica is partnering with the University of Alabama at Birmingham (UAB) Cardiogenomics Clinic to study the real-world value of polygenic risk scores (PRS) in helping prevent coronary artery disease (CAD).

UAB will offer Allelica's multi-ancestry PRS testing for CAD (CAD-PRS) to healthy individuals. Participating healthcare providers will receive results through a secure portal, which they will deliver to their patients and use to discuss prevention strategies.

UAB will survey both patients and providers via a digital questionnaire one month after result delivery to assess their reactions and perceived usefulness of the PRS results. After one year, UAB will evaluate patients' biophysical and lifestyle factors to determine if integrating PRS analysis and reporting in the clinical pathway had any impact on an individual's personal risk mitigation actions.

"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 Pankaj Arora, director of the UAB Cardiovascular Clinical and Translational Research program, in a statement.

Allelica and UAB plan to expand the study by partnering with other preventive cardiology sites across the US, to acquire more robust results through having more diverse patients and a wider pool of physicians.

Earlier this year, Allelica had raised the possibility of seeking regulatory approval for its CAD-PRS, currently marketed as a lab-developed test in collaboration with Clinical Enterprise, a CLIA-CAP lab in Massachusetts.

The test is optimized for genome-wide microarrays and whole-genome sequencing with low coverage on both Illumina and Thermo Fisher Scientific instruments.

"This study enables us to produce evidence of the real-world value of PRS in the prevention of common disease," Allelica CEO Giordano Bottà said in a statement.

The company had previously predicted that incorporating evidence from its CAD-PRS into standard CAD risk assessments would improve providers' ability to identify higher-risk individuals while providing a cost-saving benefit to US healthcare systems.

"This is a unique opportunity," Arora added, "for the patients in the Southeast to get a personalized genetic risk assessment for their lifetime risk of developing heart attacks."

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