Fabric Genomics partners with Intermountain Children’s Health to enhance precision diagnosis of infants and children using whole genome sequencing from Broad Clinical Labs

Fabric Genomics, the leader in artificial intelligence (AI)-powered next generation sequencing interpretation, is announcing a new partnership with Intermountain Children’s Health to analyze the whole genomes of children sequenced by the Broad Clinical Labs to help speed diagnosis of kids who may have genetic diseases.

This collaboration is a milestone in helping children facing critical health challenges and receiving care in inpatient and outpatient care settings, starting at Intermountain Primary Children’s Hospital in Salt Lake City, a renowned leader in pediatric healthcare and the flagship pediatric hospital for Intermountain Health. The sample-to-report genome service enables healthcare professionals to identify genetic disorders with unprecedented speed and precision and to tailor treatment plans to the unique genetic makeup of each infant.

Offered by partners Broad Clinical Labs and Fabric Genomics, the sample-to-report genomic analysis service makes whole genome sequencing (WGS) and diagnosis accessible to healthcare systems who may not currently have genomics infrastructure and expertise in-house.

Intermountain Primary Children’s Hospital has long been a pioneer in innovation, striving to deliver the highest standard of care for its young patients. The partnership between Broad Clinical Labs and Fabric Genomics addresses the critical need for affordable, accurate genomic insights, particularly for infants undergoing surgical repair of congenital heart disease (CHD).

This new service also offers competitive pricing and fast turnaround times that will help Intermountain keep costs low while increasing the quality and quantity of data for better diagnoses.  

“We are excited to integrate the Broad Clinical Labs’ whole genome sequencing service and Fabric’s Enterprise software platform into the clinical workflow within our pediatric cardiac intensive care unit (CICU). It’s a game-changer for the children and families we serve,” said Martin Tristani-Firouzi, MD, pediatric cardiologist for University of Utah Health and Intermountain Primary Children’s Hospital.

“This partnership allows us to quickly and cost-effectively access top-tier clinical-grade genome sequencing and reporting, more accurate diagnoses for these infants, and the ability to reanalyze the data, all of which ultimately will improve outcomes and enhance the quality of care we deliver to children,” Dr. Tristani-Firouzi added. “It also allows us to integrate with our research organization in the Department of Pediatrics at the University of Utah and continuously develop research protocols for unsolved cases.”

Our collaboration with Intermountain Primary Children’s Hospital and Broad Clinical Labs is a model for genomic medicine within pediatric healthcare. We look forward to supporting the hospital’s medical professionals in their pursuit of precision medicine for these young and vulnerable patients.” 

Martin Reese, PhD, Co-Founder and CEO of Fabric Genomics

The WGS service from Broad Clinical Labs utilizes GEM, Fabric’s AI algorithm, a highly sensitive, innovative tool that can more precisely detect copy number variants (CNVs) and detect causative single nucleotide variants and smaller CNVs that are invisible to commonly used microarray genetic tests. This dramatically broadens the diagnostic space and provides a more complete understanding of the genetic underpinnings of CHD. Fabric’s AI also offers opportunities for rapid reanalysis as patient medical histories evolve and knowledge of genetic diseases continues to grow, which adds value for both patients and physicians. The partners are developing protocols to routinely re-analyze cases based on updated phenotype presentations or new database knowledge.

Intermountain is the newest partner and the first healthcare system of the Broad/Fabric offering, which so far includes Nurture Genomics, a newborn sequencing company, and COMBINEDBrain, a non-profit organization dedicated to fast-tracking cures for neurodevelopmental disorders through WGS.