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Allelica, Invitae Partner to Build Ancestry-Informed Polygenic Risk Score for Breast Cancer

NEW YORK – Allelica said on Tuesday that it has formed a partnership with Invitae to develop a breast cancer polygenic risk score (PRS) that can be clinically implemented across multiple ancestries.

The collaborators plan to develop and validate this PRS by combining Invitae's genomics data, clinical reach, physician network, and development capabilities with Allelica's ability to analyze multiple datasets using its proprietary software tools.

They plan to integrate the breast cancer PRS with absolute risk models to estimate 10-year and lifetime risk in women of multiple ancestries, with the goal of better estimating when women should begin breast cancer screening and which screening modality they should use to detect disease as early as possible.

The effort joins others that similarly look to narrow health equity gaps by developing genomic tools that are more broadly applicable across genetic ancestries, as most disease-associated variants currently come from genome-wide association studies conducted in people of European ancestry.

Last year, Myriad Genetics demonstrated that its own breast cancer PRS delivers accurate risk estimates for women of diverse ancestries.

"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," Robert Nussbaum, Invitae's chief medical officer, said in a statement. "The PRS provides an opportunity to identify individuals with greater-than-average risk who might otherwise be missed."

Allelica has recently struck a number of partnerships for its PRS technology. Last month, it licensed its software to Illumina, and it teamed up with a researcher at Yale University to develop PRS for neuropsychiatric disorders.