Last month, the Cyprus-based genetic diagnostics company launched a number of hereditary cancer and somatic tumor sequencing panels, its first tests for oncology.
The test is designed to determine breast cancer risk by analyzing a number of factors including breast density, breast biopsy history, and a polygenic score.
The partners will work together on a US commercialization strategy for Genetic Technologies' line of existing and future polygenic risk tests.
The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.
In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.
Investigators calculated that the new assay, which includes 67 SNPs, could offer a 50 percent improvement over previous methods if used in newborn screening.
The article argues that PRS are bad at identifying those who will develop disease but others say this is the same for widely used risk factors.
After a successful pilot that recruited 1,000 patients, NorthShore will now engage 10,000 people to receive Color's genomic testing in their primary care.