Fabric Genomics, a pioneer in AI-driven next-generation sequencing interpretation, has announced a fresh collaboration with Intermountain Children’s Health. This partnership aims to analyze whole genomes of children sequenced by Broad Clinical Labs, facilitating faster diagnosis for children suspected of genetic diseases.
The collaboration between Fabric Genomics and Intermountain Children’s Health marks a significant advancement in aiding children with critical health conditions, particularly those receiving care at Intermountain Primary Children’s Hospital in Salt Lake City, a renowned pediatric healthcare leader and Intermountain Health’s flagship pediatric hospital.
This partnership leverages sample-to-report genome services provided by Broad Clinical Labs and Fabric Genomics, enabling healthcare professionals to swiftly and accurately identify genetic disorders in infants. This service, which includes whole genome sequencing (WGS) analysis, is especially valuable for healthcare systems lacking genomics infrastructure and expertise.
Dr. Martin Tristani-Firouzi, a pediatric cardiologist at University of Utah Health and Intermountain Primary Children’s Hospital, expressed excitement about integrating this genomic analysis service into their clinical workflow, highlighting its potential to significantly improve diagnoses and enhance patient outcomes, particularly for infants with congenital heart disease (CHD).
Fabric Genomics’ AI algorithm, GEM, enhances the WGS service by detecting copy number variants (CNVs) and causative single nucleotide variants with high sensitivity, providing a more comprehensive understanding of genetic conditions like CHD. The partnership also focuses on continuous reanalysis of cases based on evolving medical histories and genetic knowledge, ensuring ongoing improvement in diagnostic accuracy.
This collaboration reflects a model for genomic medicine in pediatric healthcare and demonstrates a commitment to advancing precision medicine for young patients.
