Invitae, Allelica to Develop Breast Cancer Polygenic Risk Score

Allelica and Invitae announced today a collaboration to develop a polygenic risk score (PRS) for breast cancer across a broad range of ancestries aimed at decreasing the performance gap for PRS for and improve breast cancer risk assessment for all women, regardless of ethnicity. The partnership will leverage artificial intelligence to build a clinical platform using Invitae’s broad genomic data with Allelica’s analytical and predictive software tools.

“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 in a press release. “We’re eager to work together to provide tools that will ultimately reduce the impact of breast cancer for women of all ancestries.”

PRS is a measurement of a person’s risk of disease that results from the combined effect of DNA variants and is calculated by combining the effect of these variants, whether each contributes a small increase or decrease in risk. Using this aggregate score, the information can be used to stratify individuals based on their risk of disease. For this collaboration, the two companies will develop and validate a new PRS for breast cancer and integrate with absolute risk models to develop a PRS for both 10-year and lifetime risk of developing the disease across multiple ancestries. The PRS will help identify women at risk of developing breast cancer who don’t possess any of the known pathogenic variants for the disease.

“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., CMO of 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.”

Allelica specializies in the use of genomic data to develop and implement clincal-grade PRSs. In the work with Invitae, the company will apply its technology platform that improves the predictive ability of PRSs with the clinical partnerships Invitae has in place with physicians and other clinical settings to collect clinical genomic data. The PRS developed will help stratify patients by risk of cancer development allowing physicians to alter screening protocols for women based on their risk profiles.

The partnership with Invitae is the second collaboration announced by the company with a heavy-hitter in the genomics space in less than a week. On April 28, the company announced that it is licensing its digital tools to sequencing giant Illumina to provide its borad base of customers with tools to develop PRSs. The collaboration also included a co-development clause for an Infinium Genotyping Array that includes curated content specific for polygenic risk score predictions.

“The research performed by Illumina’s customers using our technology will enable tomorrow’s preventive healthcare and reduce the burden of common disease at scale. This alliance is an important first link in a chain of life-saving work,” said Giordano Bottà, PhD, CEO of Allelica at the time the licensing deal was announced. “Our work with Illumina is vital in helping us strive towards our vision of reducing human suffering caused by common diseases through the power of genomic medicine.”