Galatea Bio and Fabric Genomics, a GeneDx company, announced a strategic collaboration to enhance genetic testing by incorporating both rare pathogenic variant analysis and polygenic risk scoring (PRS) to assess genetic susceptibility to common diseases.
The initial offering will include an inherited cardiovascular gene panel based on American Heart Association (AHA) recommendations, with additional PRS for 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. A follow-up offering will integrate hereditary cancer panels with PRS for breast, colorectal, and prostate cancers.
“Galatea Bio is committed to making common genetic risk prediction more accurate for all,” said Carlos Bustamante, Ph.D., CEO & Co-Founder, Galatea Bio. “Through our collaboration with Fabric Genomics, we’re working to capture both rare and common genetic contributions to disease risk—delivering meaningful insights to individuals across the US and around the world.”
This collaboration integrates Fabric Genomics’ platform for clinical reporting and its expertise in clinical gene panel curation with Galatea Bio’s advanced PRS algorithms. By combining these capabilities, the partnership provides both rare variant and polygenic genetic risk reporting using the Broad Clinical Lab’s (BCL) Blended Genome – Exome. A key component of this collaboration is the integration of Galatea Bio’s newly released individually-adjusted PRS solution, StrataRisk™ PRS, which provides genetic risk for individuals of all ancestries. This is made possible through a novel, proprietary algorithm that leverages data from the Galatea Bio Global Biobank to calibrate PRS scores against similar individuals in genomic ancestry space, ensuring equitable risk assessment across diverse populations.
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“By leveraging Fabric Genomics’ high-quality clinical gene panel interpretation to support Galatea’s polygenic risk score reporting, we are enabling more personalized assessments of an individual’s risk for common diseases,” said Martin Reese, Ph.D., President of Fabric Genomics. “This combined approach allows us to better explain patients’ results with a more accurate risk profile.”
Evaluating both rare genetic disease variants and polygenic risk scores can have several advantages over reporting either of these independently. Traditional single-gene or multi-gene panel testing focuses on high-penetrance rare mutations, which capture a subset of patients with an inherited single gene disease and often results in negative or uncertain results, leaving many patients’ risk unexplained. PRS, which aggregates the cumulative effect of numerous common genetic variants, can provide refined risk stratification.
“This collaboration between Fabric Genomics and Galatea Bio is enabled by our clinical Blended Genome – Exome,” said Niall Lennon, Ph.D., Chief Scientific Officer, Broad Clinical Labs. “This is exactly the kind of application we envisioned for this cost-effective approach—one that will provide a more comprehensive view of genetic susceptibility to important common diseases.”
Source: Businesswire