Study demonstrates clinical utility of polygenic risk scores for cardiovascular disease in multiple ancestries

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Nov 09, 2023, 06:00 ET

Results published in Nature Communications found that multi-ancestry polygenic risk scores are ready for integration in clinical implementation

NEW YORK, Nov. 9, 2023 /PRNewswire/ --Allelica, a leading provider of clinical bioinformatics technology, has announced its scientific team's publication of their latest research in Nature Communications. The publication, "Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments", builds on the company's ongoing efforts to make polygenic risk scores (PRSs) for coronary artery disease (CAD) accessible in healthcare settings for individuals of all ancestries. This research marks a significant milestone in Allelica's mission to revolutionize healthcare by harnessing the power of PRS.

Key findings of the publication include:

Allelica's CAD PRSs identify individuals at high genetic risk of disease across all major genetic ancestry groups. Allelica demonstrates the utility of their multi-ancestry CAD PRSs by using them to identify between 12% and 24% of individuals at high genetic risk of CAD depending on their genetic ancestry. The publication also highlights validation results for the scores' utility for individuals with mixed ancestries, showing efficacy across the board.
Using high CAD PRS as a risk factor leads to more accurate clinical risk assessments compared to models that don't use genetic information. When using high CAD PRS as a risk factor, clinical risk assessments were significantly more accurate compared to models that did not incorporate this genetic information.
Authors provide a framework for the implementation of the PRSs in line with current clinical guidelines. Allelica is dedicated to the responsible implementation of PRSs in clinical practice. The authors propose a framework where CAD PRSs are used as a risk factor for individuals who are already at intermediate 10 year cardiovascular disease risk. Current clinical guidelines advocate for the use of such risk factors to augment clinical risk assessments, paving the way for the integration of CAD PRSs into preventive healthcare.

Dr. George Busby, Chief Scientific Officer of Allelica, underscores the significance of these findings and their implications for healthcare providers and patients, stating: "The role of several physiological factors – such as high LDL cholesterol – in cardiovascular disease risk is well established in clinical assessment guidelines. However, despite a general consensus that genetics also plays a role, there is currently no opportunity to use this important aspect of an individual's susceptibility to disease to better classify their overall risk. Our results highlight the transformative potential of polygenic risk scores to identify this risk and use it in clinical risk assessments for one of the most common, and preventable diseases - coronary artery disease. Identifying individuals at high genetic risk of coronary artery disease across diverse ancestry groups promotes equitable precision medicine. This research is part of Allelica's commitment to extending the benefits of genomics to all individuals, irrespective of their ancestry, and we believe it will be a game-changer in preventive and personalized healthcare."

Allelica's work extends beyond research findings to the practical implementation of PRS. The company is focused on incorporating advances in PRS into tangible tools for healthcare providers through cutting-edge software for PRS analysis and reporting and full service genetic testing solutions.

The multi-ancestry CAD PRS highlighted in the Nature Communications publication is available as an end-to-end clinical test, offered in partnership with CLIA, CAP laboratories in the United States, and equivalent certified medical laboratories in Europe, the United Kingdom, and the Middle East, providing an accessible and reliable method for healthcare providers to integrate PRS into traditional risk assessments.

This publication represents a significant stride in the field of precision medicine and polygenic risk score, with the scientists at Allelica leading the way. The company maintains a zealous commitment to building a healthier, more personalized future for individuals of all genetic ancestries.

For further information about Allelica's latest research and the clinical implementation of multi-ancestry polygenic risk scores, please visit the website at www.allelica.com or contact the media relations team at [email protected].

About Allelica
Allelica is a leading genomic software company that specializes in secure and scalable solutions to implement clinical polygenic risk scores (PRSs) in multiple ancestries. Allelica's technology combines world-class datasets with the most advanced algorithms to build PRSs with the highest predictive power for estimating disease risk. Allelica's tools translate the enormous potential of genomic data into practical tools that can be used to identify individuals with a high genetic susceptibility for life-threatening diseases. Through the incorporation of genetics into disease risk assessments, Allelica is helping to build the foundations of preventive medicine by helping to identify those for whom early intervention and behavior modification could help reduce lifetime risk. To learn more, visit allelica.com.

SOURCE Allelica, Inc.