Allelica Presents New Method to Model Human Genetic Diversity Without Labels, Driving Increased Equity in Precision Medicine

DENVER, Nov. 13, 2024 /PRNewswire/ — Last week at the American Society of Human Genetics (ASHG) Annual Meeting, the leaders in clinical polygenic risk score (PRS) analysis at Allelica unveiled a groundbreaking approach to modeling human genetic diversity without predefined labels. This new method called “8 Billion” generates 8 billion unique risk models,  to represent each individual on the planet, marking a significant milestone in the company’s mission to make PRS more accurate and predictive across all varieties of human genetic diversity. Allelica’s innovative method is a big step forward to transform the traditional, restrictive “bucket” approach to genetic ancestry, which has long fallen short in capturing the genuine diversity of human beings.

“Up until now, risk models in genomics have relied on broad categories that overlook the specific and unique genetic makeup of each individual,” said Giordano Bottà, CEO of Allelica. “This innovation is a transformative step towards reducing disparities in healthcare, enabling a more precise and equitable approach to precision medicine.”

Current methods force each individual into a bucket defined by continental borders, even when the individual is admixed or originates from a place that does not clearly align with these constructed geographies. As a result, these misaligned individuals can experience exacerbated health inequities. The 8 Billion model’s 81% improvement in estimated risk probability (Brier score) compared to the bucket approach means far more accurate predictions, leading to 24% fewer misclassifications (as measured by net reclassification improvement) and more reliably identifying patients who need intervention as a result.

By further enhancing the predictive power of Allelica’s multi-ancestry PRS for individuals of diverse backgrounds, Allelica’s method once again raises the standard for addressing human genetic diversity in the implementation of polygenic risk scores. As part of the company’s ongoing commitment to advancing equity in healthcare, the 8 Billion method will be integrated with existing products, in parallel with continuous improvements to risk models for diverse populations.

The method was presented by Allelica scientists at the ASHG Meeting with a poster titled 8 billion risk models: modelling human genetic diversity without labels improves risk model performance. The work generated significant interest among attendees, leading to numerous requests for additional presentation sessions. The presentation also covered how Allelica scientists are integrating the new method into the company’s proprietary clinical PRS tests and software, allowing third-party labs to develop their own clinical PRS tests. The ability to model individual genetic diversity through scalable solutions like Allelica’s software tools opens up vast potential for improved health outcomes, particularly for populations historically underrepresented in genomic research. A pending patent application protects the 8 Billion method, reinforcing Allelica’s position at the forefront of precision medicine innovation.

In addition to this presentation, Allelica showcased two other major findings in presentations titled: Integrating APOE haplotype and PRS to improve Alzheimer’s disease genetic risk prediction and a new method to identify drug targets using multi-omics and causal inference: Refraction of Causal Analyses upon Proteomics Data Into Bands of Efficacious Drug Targets. These results further highlight Allelica’s dedication to addressing complex genetic risk factors in healthcare and working to improve preventive medicine for all.

About Allelica
Allelica is the leading platform enabling precision medicine for common disease. Allelica’s technology combines world-class datasets with the most advanced algorithms to build polygenic risk scores (PRS) with the highest predictive power for estimating disease risk in diverse populations. Allelica’s tools translate the enormous potential of genomic data into practical tools that physicians can use to identify individuals with a high genetic susceptibility for life-threatening diseases. Through the incorporation of genetics into disease risk assessments, Allelica is building the foundations of precision medicine for common disease. To learn more, visit allelica.com.

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SOURCE Allelica, Inc.