Galatea Bio and Fabric Genomics, a GeneDx company, have announced a significant strategic collaboration aimed at revolutionizing genetic testing. This partnership will integrate rare pathogenic variant analysis with polygenic risk scoring (PRS), allowing for a more comprehensive assessment of an individual's genetic susceptibility to common diseases. This combined approach addresses a critical gap in traditional genetic testing, which often focuses solely on high-penetrance rare mutations, leaving many patients with unexplained risk. By aggregating the cumulative effect of numerous common genetic variants through PRS, the collaboration provides refined risk stratification.

The initial offering from this collaboration will feature an inherited cardiovascular gene panel, meticulously curated based on American Heart Association (AHA) recommendations. This will be complemented by PRS for a range of cardiovascular-related traits, including coronary arterial disease, high low-density lipoprotein (LDL), elevated triglycerides, low high-density lipoprotein (HDL), atrial fibrillation, hypertension, type 2 diabetes, and hypothyroidism. Following this, the partnership plans to integrate hereditary cancer panels with PRS for prevalent cancers such as breast, colorectal, and prostate.

A core strength of this collaboration lies in the integration of Fabric Genomics’ robust platform for clinical reporting and its expertise in clinical gene panel curation with Galatea Bio’s cutting-edge PRS algorithms. A key innovation is Galatea Bio's newly released, individually-adjusted StrataRisk™ PRS solution. This proprietary algorithm leverages data from the Galatea Bio Global Biobank to calibrate PRS scores against similar individuals in genomic ancestry space, ensuring equitable and accurate risk assessment across diverse populations – a crucial step towards inclusive precision health. The combined reporting of both rare variant and polygenic genetic risk will be facilitated using the Broad Clinical Lab’s (BCL) Blended Genome – Exome, a cost-effective approach enabling a more comprehensive view of genetic susceptibility. This partnership underscores a shared commitment to delivering meaningful, personalized insights to individuals worldwide, ultimately democratizing genomics-driven precision medicine.