Allelica Collaborates with Invitae to Build Ancestry-Informed Polygenic Risk Score for Breast Cancer

Allelica and Invitae aim to decrease the gap in polygenic risk score (PRS) performance in individuals from diverse genetic ancestries, ensuring that the life-saving integration of genomic information into breast cancer risk assessments can benefit all women

NEW YORK, May 3, 2022 /PRNewswire/ -- Allelica has formalized a partnership with Invitae Corporation (NYSE: NVTA), a leading medical genetics company, to build a clinical artificial intelligence architecture for breast cancer polygenic risk score (PRS) development and clinical implementation in multiple ancestries.

The partnership will accelerate clinical applications of PRS for individuals of diverse ancestries by combining Invitae's wealth of high-quality genomics data with Allelica's cutting-edge genomics analytics and predictive software tools. This will enable new PRS development and deployment in clinical settings.

"Our partnership with Invitae is an incredible opportunity for us to join forces and leverage our complementary expertise to address one of the most pressing challenges in genomic medicine: closing the diversity gap in healthcare," said Allelica's CSO, Dr. George Busby. "We're eager to work together to provide tools that will ultimately reduce the impact of breast cancer for women of all ancestries."

Allelica's collaboration with Invitae involves the development and validation of a new PRS for breast cancer and its integration with absolute risk models to estimate 10-year and lifetime risk in women of multiple ancestries. PRS for breast cancer can inform when women should begin breast cancer screening and which screening modality they should use in order to detect the disease as early as possible. Polygenic factors and pathogenic variants in moderate- and high-risk genes account for similar proportions of the familial relative risk of breast cancer.

"Fewer than 10% of women referred for hereditary cancer testing are found to have pathogenic variants in known breast cancer susceptibility genes," said Robert Nussbaum, M.D., chief medical officer, Invitae. "This new PRS can address an unmet need for women who are at increased risk due to family history but do not have a positive result on a gene panel. The PRS provides an opportunity to identify individuals with greater-than-average risk who might otherwise be missed."

The companies will combine Allelica's innovative approach for leveraging multiple datasets to improve the prediction of PRS across different genetic ancestries with Invitae's clinical reach, physician network, and development capabilities of innovative genomics products. With this collaboration, Allelica and Invitae aim to decrease the gap in PRS performance in individuals from diverse genetic ancestries, ensuring that the lifesaving integration of genomic information into breast cancer risk assessments can benefit all women.

What is a Polygenic Risk Score (PRS)?
A PRS is a measurement of a person's risk of disease that results from the combined effect of many DNA variants across the genome. It is calculated by combining the effect of these variants, each contributing a small increase or decrease in risk into an overall risk score. This information can be used to stratify individuals based on their risk of disease. By combining PRS with conventional risk factors, Allelica aims to make precision medicine available at scale.

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit

About Allelica
Allelica is a leading genomic software company that specializes in secure and scalable solutions to implement clinical-grade polygenic risk scores (PRSs). 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

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SOURCE Allelica, Inc.

Company Codes: NYSE:NVTA

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